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20 Types of Autoimmune Disease — Comprehensive Clinical Reference
Sources: Janeway's Immunobiology 10e | Harrison's Principles of Internal Medicine 22E (2025) | Robbins & Kumar Basic Pathology | Henry's Clinical Diagnosis and Management by Laboratory Methods | Brenner & Rector's The Kidney | EULAR 2023 SLE Guidelines (PMID 38777375) | JCR RA Guidelines 2024 (PMID 38814660)
Classification Framework
Autoimmune diseases divide into two major categories:
| Category | Definition | Examples |
|---|---|---|
| Organ-Specific | Autoantigens from one/few organs; disease limited to those organs | T1DM, Hashimoto's, Graves', MS, MG, Goodpasture's |
| Systemic | Ubiquitous antigens targeted; multi-organ involvement | SLE, RA, Scleroderma, Sjögren's, Polymyositis |
— Janeway's Immunobiology 10e, Fig. 15.7
Universal Treatment Principles (All Autoimmune Diseases)
| Tier | Agents | Notes |
|---|---|---|
| 1st Line | Corticosteroids (Prednisolone, Methylprednisolone) | Broad immunosuppression; taper to minimum effective dose |
| 2nd Line | DMARDs: Methotrexate, Azathioprine, Hydroxychloroquine, Mycophenolate | Disease-modifying; slower onset |
| 3rd Line | Biologics: Anti-TNF, Anti-CD20, Anti-IL, JAK inhibitors | Targeted; expensive; infection risk |
| Adjunct | NSAIDs, Calcium + Vit D supplementation, PPI cover | Prevent steroid side effects |
Key Contraindications (Common to all):
- Live vaccines during immunosuppression
- Active untreated infection (relative CI for all immunosuppressants)
- Pregnancy (Methotrexate, Mycophenolate, Leflunomide — teratogenic)
- Severe hepatic failure (most DMARDs)
- Prior malignancy within 5 years (biologics — relative CI)
20 Autoimmune Diseases — Detailed Clinical Reference
1. 🔴 Systemic Lupus Erythematosus (SLE)
| Feature | Detail |
|---|---|
| System | Multi-system (skin, kidney, joints, CNS, blood) |
| Age Group | Women 15–45 yrs; F:M = 9:1 |
| Key Findings | Malar rash, discoid rash, photosensitivity, oral ulcers, serositis, nephritis, neuropsychiatric symptoms |
| Autoantibodies | ANA (screening), anti-dsDNA (specific), anti-Sm (specific), antiphospholipid antibodies |
| Blood (RBC/WBC/Plt) | Haemolytic anaemia (Coombs+), lymphopenia (<1000/μL), thrombocytopenia (<100,000/μL) |
| Key Investigations | ANA, anti-dsDNA, C3/C4 (↓), urinalysis, renal biopsy, CBC, CRP, ESR, antiphospholipid panel |
| Differential Diagnosis | Rheumatoid arthritis, Drug-induced lupus, Mixed connective tissue disease, Infections (viral, TB), Vasculitis, Lymphoma |
| Treatment | Hydroxychloroquine (all patients), Prednisolone (flares), Mycophenolate or Cyclophosphamide (nephritis), Belimumab (refractory), Voclosporin (lupus nephritis) |
| Contraindications | NSAIDs in nephritis; Cyclophosphamide in pregnancy; Hydroxychloroquine in G6PD deficiency; Live vaccines on immunosuppressants |
| OPD Management | Sun protection, regular BP + urinalysis, annual ophthalmology (HCQ toxicity), bone density, vaccinations (inactivated) |
| ICU Management | Lupus cerebritis → Methylprednisolone IV + Cyclophosphamide; Catastrophic APS → anticoagulation + IVIG + plasmapheresis; Pulmonary haemorrhage → ventilation + immunosuppression |
| Nutrition | Low salt (nephritis/steroid HTN), Calcium 1200 mg + Vit D 800 IU/day, anti-inflammatory diet (omega-3), adequate protein if nephrotic |
| Flow of Diagnosis | Symptoms → ANA screen → if +ve: anti-dsDNA, anti-Sm, complement → organ assessment (renal, CNS, blood) → SLICC criteria (≥4/11) → classify severity → treat |
| Summary | Chronic relapsing-remitting multi-system autoimmune disease; hallmark ANA; key complication lupus nephritis; treat-to-target remission |
2. 🟠 Rheumatoid Arthritis (RA)
| Feature | Detail |
|---|---|
| System | Joints (synovium), extra-articular (lung, eye, heart, skin) |
| Age Group | Peak 40–60 yrs; F:M = 3:1; juvenile form (JIA) in children |
| Key Findings | Symmetric polyarthritis (MCP, PIP), morning stiffness >1 hr, rheumatoid nodules, pannus formation |
| Autoantibodies | RF (Rheumatoid Factor), Anti-CCP (most specific) |
| Blood | Normocytic normochromic anaemia (chronic disease), ↑ESR, ↑CRP, neutrophilia (active disease), thrombocytosis |
| Key Investigations | RF, Anti-CCP, X-ray hands/feet (erosions), ESR/CRP, X-ray chest (ILD), synovial fluid analysis |
| Differential Diagnosis | OA, SLE, Psoriatic arthritis, Reactive arthritis, Septic arthritis, Gout, Polymyalgia rheumatica |
| Treatment | Methotrexate (first-line DMARD), Hydroxychloroquine, Sulfasalazine, Leflunomide; Biologics: Etanercept, Adalimumab, Rituximab, Tocilizumab; JAK inhibitors: Baricitinib, Tofacitinib |
| Contraindications | Methotrexate: pregnancy, hepatic disease, alcohol, creatinine >2; Anti-TNF: active TB, heart failure (NYHA III/IV), prior lymphoma; Tofacitinib: thromboembolism risk |
| OPD Management | Disease activity score (DAS28), DMARD titration, physiotherapy, annual CXR, monitor LFTs (MTX), DEXA scan |
| ICU Management | Cricoarytenoid arthritis → airway compromise → intubation; Atlanto-axial subluxation → immobilise; Pericardial tamponade → drainage; Respiratory failure (ILD) → mechanical ventilation |
| Nutrition | Anti-inflammatory diet, omega-3 supplements, Calcium + Vit D (steroid-induced osteoporosis prevention), folate supplementation with MTX |
| Flow of Diagnosis | Symmetric joint swelling → RF + Anti-CCP → imaging → ACR/EULAR 2010 criteria (score ≥6/10 = RA) → exclude infection/gout → DMARD initiation |
| Summary | Most common inflammatory arthritis; anti-CCP most specific; treat-to-target (DAS28 <2.6); early DMARD initiation prevents erosion |
3. 🟡 Type 1 Diabetes Mellitus (T1DM)
| Feature | Detail |
|---|---|
| System | Pancreatic β-cells (endocrine) |
| Age Group | Children/adolescents; peak 10–14 yrs; can occur at any age |
| Key Findings | Polyuria, polydipsia, polyphagia, weight loss, DKA at presentation |
| Autoantibodies | Anti-GAD65, Anti-IA2, Anti-insulin (IAA), Anti-ZnT8 |
| Blood | Hyperglycaemia, HbA1c ↑, metabolic acidosis in DKA; normocytic anaemia possible long-term |
| Key Investigations | Fasting glucose, HbA1c, C-peptide (low/absent), GAD antibodies, blood gas (DKA), urinalysis (ketones), lipid panel |
| Differential Diagnosis | T2DM, MODY (monogenic diabetes), T3c (pancreatogenic), steroid-induced diabetes, LADA (in adults) |
| Treatment | Insulin therapy (basal-bolus regimen): Insulin glargine/detemir + rapid-acting (Lispro, Aspart); Insulin pump (CSII); CGM; Pancreatic islet transplantation (selected cases) |
| Contraindications | No oral hypoglycaemics except Metformin as adjunct (unlicensed); no sulfonylureas (no endogenous insulin); avoid prolonged fasting without insulin adjustment |
| OPD Management | CGM, HbA1c every 3 months, annual dilated eye exam, urine ACR, neuropathy screen, BP control, foot examination |
| ICU Management | DKA: IV fluids (0.9% NaCl), IV insulin infusion, potassium replacement, bicarbonate only if pH <6.9; Hyperosmolar crisis (rare in T1DM) → fluid resuscitation |
| Nutrition | Carbohydrate counting, fixed meal timing, low glycaemic index, adequate protein, fibre-rich diet |
| Flow of Diagnosis | Classic symptoms → glucose >11.1 mmol/L or fasting >7 mmol/L → C-peptide (low) + GAD antibodies → confirms T1DM → initiate insulin |
| Summary | Absolute insulin deficiency; antibody-mediated β-cell destruction; insulin is life-saving; DKA is the main acute emergency |
4. 🟢 Hashimoto's Thyroiditis (Autoimmune Hypothyroidism)
| Feature | Detail |
|---|---|
| System | Thyroid |
| Age Group | Women 30–60 yrs; F:M = 7:1; also occurs in children |
| Key Findings | Goitre (initially), fatigue, cold intolerance, weight gain, constipation, dry skin, bradycardia, hypothyroidism |
| Autoantibodies | Anti-TPO (most sensitive), Anti-thyroglobulin |
| Blood | TSH ↑, Free T4 ↓, normocytic or macrocytic anaemia (coexisting B12/iron deficiency), hyperlipidaemia |
| Key Investigations | TFTs (TSH, fT4), Anti-TPO antibodies, thyroid ultrasound (heterogeneous echogenicity), CBC |
| Differential Diagnosis | Graves' disease (early), Subacute thyroiditis, Riedel's thyroiditis, Drug-induced hypothyroidism (amiodarone, lithium), Secondary hypothyroidism |
| Treatment | Levothyroxine (T4 replacement): start low, titrate to TSH normalisation; targets TSH 0.5–2.5 mIU/L |
| Contraindications | Levothyroxine in untreated adrenal insufficiency (precipitate adrenal crisis); caution in ischaemic heart disease (start low dose) |
| OPD Management | Annual TFTs, dose titration, screen for coexisting T1DM/vitiligo/pernicious anaemia (polyendocrine syndrome) |
| ICU Management | Myxoedema coma → IV T3/T4, IV hydrocortisone, IV fluids, passive rewarming, ventilatory support |
| Nutrition | Adequate iodine, selenium supplementation (may reduce antibodies), avoid excessive raw brassica vegetables |
| Flow of Diagnosis | Symptoms → TSH (↑) → fT4 (↓) → Anti-TPO → thyroid US → confirm autoimmune hypothyroidism |
| Summary | Most common cause of hypothyroidism in developed countries; lymphocytic infiltration of thyroid; lifelong levothyroxine treatment |
5. 🔵 Graves' Disease (Autoimmune Hyperthyroidism)
| Feature | Detail |
|---|---|
| System | Thyroid |
| Age Group | Women 20–40 yrs; F:M = 5:1 |
| Key Findings | Diffuse goitre, exophthalmos (proptosis), pretibial myxoedema, tremor, tachycardia, weight loss, heat intolerance, AF |
| Autoantibodies | TSH receptor antibodies (TRAb/TSHR-Ab) — stimulatory |
| Blood | TSH ↓ (suppressed), fT3 + fT4 ↑, normocytic anaemia, mildly raised LFTs, hypercalcaemia possible |
| Key Investigations | TFTs, TRAb, thyroid scan (diffuse uptake), thyroid ultrasound, ECG (AF), CBC |
| Differential Diagnosis | Toxic multinodular goitre, Toxic adenoma, Subacute thyroiditis, Factitious thyrotoxicosis, Struma ovarii |
| Treatment | Antithyroid drugs (Carbimazole, Propylthiouracil), Radioiodine (I-131), Thyroidectomy; Beta-blockers (propranolol) for symptom control |
| Contraindications | PTU: avoid long-term (hepatotoxicity); I-131: pregnancy (absolute CI); Carbimazole: pregnancy trimester 1 (teratogenic — aplasia cutis); Beta-blockers: asthma, severe COPD |
| OPD Management | Regular TFTs (every 4–6 weeks during titration), ophthalmology for Graves' orbitopathy, bone density |
| ICU Management | Thyroid storm (Burch-Wartofsky score): PTU + Lugol's iodine + propranolol + dexamethasone + supportive cooling; life-threatening emergency |
| Nutrition | Avoid excess iodine (seaweed, supplements), high calorie diet (hypermetabolic state), calcium + Vit D |
| Flow of Diagnosis | Hyperthyroid symptoms → TSH suppressed + fT4/fT3 ↑ → TRAb positive → thyroid scan → confirm Graves' |
| Summary | TSH receptor stimulatory antibodies drive hyperthyroidism; only autoimmune disease causing organ hyperfunctioning; thyroid storm is life-threatening |
6. 🟣 Multiple Sclerosis (MS)
| Feature | Detail |
|---|---|
| System | CNS (demyelination of brain and spinal cord) |
| Age Group | Young adults 20–40 yrs; F:M = 2:1 |
| Key Findings | Optic neuritis, Lhermitte's sign, spastic paraparesis, cerebellar ataxia, bladder dysfunction, fatigue; relapsing-remitting or progressive |
| Autoantibodies | Anti-MOG, Anti-AQP4 (NMO spectrum — differential), Anti-MBP |
| Blood | Usually normal; CSF: oligoclonal bands (IgG), ↑IgG index, mild pleocytosis |
| Key Investigations | MRI brain/spine (T2 periventricular white matter lesions, Dawson's fingers), VEPs (prolonged P100), CSF oligoclonal bands, OCT (optic nerve), McDonald criteria |
| Differential Diagnosis | Neuromyelitis optica (AQP4+), Vitamin B12 deficiency, Vasculitis (CNS), Sarcoidosis, Lyme neuroborreliosis, Acute disseminated encephalomyelitis (ADEM) |
| Treatment | Relapses: IV Methylprednisolone 1g/day × 3–5 days; Disease-modifying: Interferon-β, Glatiramer acetate (mild-moderate); Natalizumab, Ocrelizumab, Alemtuzumab (high efficacy); Siponimod (secondary progressive) |
| Contraindications | Natalizumab: JC virus antibody positive (PML risk); Alemtuzumab: active infection, HIV; Ocrelizumab: hepatitis B; All live vaccines contraindicated on DMTs |
| OPD Management | Annual MRI surveillance, EDSS scoring, physiotherapy, bladder management, cognitive rehabilitation, fatigue management, vaccinations |
| ICU Management | Acute severe relapse with respiratory compromise → mechanical ventilation; NMO crisis → plasma exchange; Severe spasticity crisis → baclofen pump |
| Nutrition | Vitamin D sufficiency (≥50 nmol/L), omega-3 supplementation (anti-inflammatory), Mediterranean diet; avoid obesity |
| Flow of Diagnosis | Episode of neurological dysfunction → MRI (dissemination in space) → repeat episode or new lesion (dissemination in time) → McDonald 2017 criteria → CSF oligoclonal bands → confirm MS |
| Summary | Most common inflammatory CNS disease; MRI is diagnostic cornerstone; early high-efficacy DMT improves outcomes |
7. ⚪ Myasthenia Gravis (MG)
| Feature | Detail |
|---|---|
| System | Neuromuscular junction |
| Age Group | Bimodal: Women 20–40, Men 60–70; neonatal form (transient) |
| Key Findings | Fatigable weakness (ptosis, diplopia, dysarthria, dysphagia, limb weakness), worsens with exertion, improves with rest |
| Autoantibodies | Anti-AChR (85%), Anti-MuSK (10%), Anti-LRP4 (rare) |
| Blood | Mostly normal; check TFTs (coexisting thyroid disease); CBC normal |
| Key Investigations | Anti-AChR antibodies, tensilon (edrophonium) test, single-fibre EMG (most sensitive), repetitive nerve stimulation (decremental response), CT chest (thymoma), ice pack test |
| Differential Diagnosis | Lambert-Eaton myasthenic syndrome (LEMS — proximal, facilitation), Botulism, Brainstem stroke, Miller-Fisher syndrome, Chronic fatigue, Thyroid disease, Drug-induced (aminoglycosides) |
| Treatment | Pyridostigmine (symptomatic); Prednisolone ± Azathioprine/Mycophenolate (immunosuppression); Thymectomy (thymoma or generalised MG <65 yrs); IVIG or Plasma exchange (crisis/pre-surgery); Eculizumab (refractory anti-AChR+) |
| Contraindications | Avoid drugs that worsen MG: aminoglycosides, fluoroquinolones, magnesium, beta-blockers, procainamide, chloroquine; Succinylcholine (prolonged block) |
| OPD Management | Myasthenia Gravis Foundation of America (MGFA) class monitoring, pyridostigmine dose titration, thymoma screening (annual CT), avoid triggers (heat, infection, stress) |
| ICU Management | Myasthenic crisis (respiratory failure) → BiPAP/intubation; withhold pyridostigmine (excessive secretions); IVIG 2g/kg over 5 days OR plasma exchange × 5 sessions; identify trigger (infection, medication) |
| Nutrition | Soft/pureed food if dysphagia; aspirate risk → NG tube/PEG; high protein, adequate calorie intake |
| Flow of Diagnosis | Fatigable weakness → Anti-AChR/MuSK antibodies → EMG (decremental response) → CT chest → edrophonium test → MGFA classification → treatment plan |
| Summary | Anti-AChR antibody blocks neuromuscular transmission; myasthenic crisis is a medical emergency; thymectomy improves outcomes |
8. 🟤 Inflammatory Bowel Disease — Crohn's Disease
| Feature | Detail |
|---|---|
| System | Gastrointestinal tract (mouth to anus); transmural; skip lesions |
| Age Group | 15–35 yrs (first peak), 50–70 yrs (second peak); equal sex |
| Key Findings | Abdominal pain (RIF), diarrhoea, weight loss, perianal disease (fistulae, abscesses), extraintestinal (uveitis, erythema nodosum, arthropathy) |
| Autoantibodies | ASCA (Anti-Saccharomyces cerevisiae antibodies) — positive; pANCA — negative (helps differentiate from UC) |
| Blood | Microcytic anaemia (iron malabsorption), macrocytic (B12 malabsorption — terminal ileum disease), ↑CRP, ↑ESR, low albumin, low ferritin |
| Key Investigations | Ileocolonoscopy + biopsy (skip lesions, granulomas), MRI enterography (small bowel, fistulae), CRP/faecal calprotectin, stool culture, CT abdomen |
| Differential Diagnosis | Ulcerative colitis, TB (ileocaecal), Yersinia enterocolitis, NSAID enteropathy, Lymphoma, Ischaemic colitis, IBS |
| Treatment | Induction: Prednisolone, Budesonide (ileocaecal); Maintenance: Azathioprine, 6-MP, Methotrexate; Biologics: Infliximab, Adalimumab, Vedolizumab, Ustekinumab; Surgery (strictures, fistulae) |
| Contraindications | Anti-TNF: active infection, TB (screen first with Mantoux/IGRA), demyelinating disease, moderate-severe heart failure; Methotrexate: pregnancy |
| OPD Management | Harvey-Bradshaw Index monitoring, nutritional assessment, iron/B12/folate supplementation, colonoscopy surveillance (dysplasia), osteoporosis prevention |
| ICU Management | Toxic megacolon → nil by mouth, IV steroids, antibiotics, surgical review; Intestinal obstruction → decompression, surgical assessment; Sepsis → broad-spectrum antibiotics, resuscitation |
| Nutrition | High protein, elemental/polymeric enteral nutrition (can induce remission), low residue diet (strictures), iron, B12, Zinc, Vit D supplementation |
| Flow of Diagnosis | Symptoms → stool cultures (exclude infection) → CRP + faecal calprotectin → ileocolonoscopy + biopsy → MRI enterography → confirm Crohn's |
| Summary | Transmural granulomatous inflammation; skip lesions; perianal disease pathognomonic; biologics transformed management |
9. 🔶 Ulcerative Colitis (UC)
| Feature | Detail |
|---|---|
| System | Colon (mucosa and submucosa only, continuous from rectum) |
| Age Group | 15–30 yrs; second peak 50–70 yrs |
| Key Findings | Bloody diarrhoea, urgency, tenesmus, cramping; always involves rectum; extraintestinal manifestations (PSC, pyoderma gangrenosum) |
| Autoantibodies | pANCA positive; ASCA negative |
| Blood | Microcytic anaemia (chronic blood loss), ↑CRP, ↑ESR, low albumin, thrombocytosis (reactive), hyponatraemia |
| Key Investigations | Flexible sigmoidoscopy/colonoscopy + biopsy, CRP, faecal calprotectin, MRCP (PSC), stool cultures |
| Differential Diagnosis | Crohn's, Infectious colitis (Campylobacter, C. difficile), Ischaemic colitis, Radiation proctitis, Colorectal carcinoma |
| Treatment | Mild: 5-ASA (Mesalazine); Moderate: Oral prednisolone; Severe: IV hydrocortisone; Biologics: Infliximab, Vedolizumab; Surgery: Total colectomy (curative) |
| Contraindications | Same as Crohn's for biologics; Mesalazine: sulphonamide allergy |
| OPD Management | Truelove & Witts severity scoring, colonoscopy surveillance (cancer risk), liver function (PSC), bone density |
| ICU Management | Severe UC: IV hydrocortisone 400mg/day × 3 days → assess (Travis criteria) → rescue Infliximab or Ciclosporin OR surgical review; Toxic megacolon management same as Crohn's |
| Nutrition | High protein, iron supplementation (blood loss), avoid high-fibre during flares, Vit D, probiotics |
| Flow of Diagnosis | Bloody diarrhoea → stool culture → colonoscopy (continuous mucosal inflammation from rectum) + biopsy → confirm UC → Mayo score severity |
| Summary | Mucosal disease from rectum upward; only GI autoimmune disease that is surgically curable; cancer surveillance mandatory after 8–10 years |
10. 🩷 Sjögren's Syndrome
| Feature | Detail |
|---|---|
| System | Exocrine glands (lacrimal, salivary) + systemic |
| Age Group | Women 40–60 yrs; F:M = 9:1; primary or secondary (with RA/SLE) |
| Key Findings | Keratoconjunctivitis sicca (dry eyes), xerostomia (dry mouth), parotid swelling, fatigue, arthralgias, Raynaud's, lymphoma risk (44× increased) |
| Autoantibodies | Anti-Ro/SSA (most sensitive), Anti-La/SSB |
| Blood | Normocytic anaemia, lymphopenia, ↑ESR, hypergammaglobulinaemia, cryoglobulins, low complement |
| Key Investigations | Anti-Ro/SSA + Anti-La/SSB, Schirmer's test (<5mm in 5 min = abnormal), salivary flow rate, minor salivary gland biopsy (focal lymphocytic sialadenitis), ANA, RF |
| Differential Diagnosis | SLE, Sarcoidosis, HIV-related sicca, IgG4-related disease, GVHD, Drug-induced dry mouth (anticholinergics) |
| Treatment | Sicca: Artificial tears, saliva substitutes, Pilocarpine/Cevimeline; Systemic: Hydroxychloroquine, Prednisolone; Vasculitis/organ involvement: Rituximab, Azathioprine, Mycophenolate |
| Contraindications | Pilocarpine: narrow-angle glaucoma, asthma, uncontrolled cardiac disease; Hydroxychloroquine: G6PD deficiency, macular disease |
| OPD Management | Ophthalmology, dental care (rampant caries risk), annual lymphoma screening (LDH, lymphadenopathy), salivary gland monitoring |
| ICU Management | Interstitial pneumonia → oxygen, corticosteroids; Peripheral neuropathy crisis → IVIG; Renal tubular acidosis → IV bicarbonate |
| Nutrition | Hydration, fluoride dental treatments, xylitol gum (salivary stimulation), avoid anticholinergic medications |
| Flow of Diagnosis | Dry eyes + dry mouth → Schirmer's test → Anti-Ro/SSA → salivary biopsy → ESSDAI scoring → ACR/EULAR criteria (score ≥4) → confirm Sjögren's |
| Summary | "Dry gland" disease; systemic manifestations common; 5% lifetime risk of B-cell lymphoma; anti-Ro/SSA is key antibody |
11. 🟩 Systemic Sclerosis (Scleroderma)
| Feature | Detail |
|---|---|
| System | Skin, lung, GI, kidney, heart, vascular |
| Age Group | Women 30–50 yrs; F:M = 4:1 |
| Key Findings | Raynaud's (often first), skin thickening (limited vs diffuse), calcinosis, telangiectasia, digital ulcers, ILD, PAH, GORD |
| Autoantibodies | ANA (>90%), Anti-Scl-70/topoisomerase-I (diffuse SSc, ILD), Anti-centromere (limited, CREST), Anti-RNA Pol III (diffuse, renal crisis risk) |
| Blood | Normocytic anaemia (chronic), microangiopathic haemolytic anaemia (in renal crisis), ↑ESR, elevated creatinine (renal involvement), hypoxia |
| Key Investigations | ANA + ENA panel, nailfold capillaroscopy, HRCT chest (ILD), PFTs (↓FVC, ↓DLCO), Echo/RHC (PAH), 24h urine protein, upper GI endoscopy, ECG |
| Differential Diagnosis | Eosinophilic fasciitis, Morphoea, Overlap syndromes, Nephrogenic systemic fibrosis, Porphyria cutanea tarda, GVHD |
| Treatment | No cure; Raynaud's: CCBs (Nifedipine), Sildenafil, Prostacyclins; ILD: Nintedanib, Tocilizumab, Mycophenolate; PAH: Ambrisentan, Bosentan, Macitentan; Scleroderma renal crisis: ACE inhibitors (urgent); Immunosuppression: Mycophenolate, Cyclophosphamide |
| Contraindications | ACE inhibitors: pregnancy; NSAIDs in renal disease; Avoid cold exposure (Raynaud's); Sildenafil + Nitrates (hypotension) |
| OPD Management | Annual HRCT, PFTs, Echo, BP monitoring (renal crisis prevention), dental care, reflux management, physiotherapy |
| ICU Management | Scleroderma renal crisis → urgent ACEi (captopril), dialysis if needed; Hypertensive emergency → IV labetalol; Respiratory failure (ILD/PAH) → mechanical ventilation, inhaled prostacyclins |
| Nutrition | Small frequent meals (GORD, gastroparesis), high calorie diet (malabsorption), Vitamin D/Calcium, enteral nutrition if severe GI disease |
| Flow of Diagnosis | Raynaud's + skin changes → ANA → Anti-Scl-70/ACA → nailfold capillaroscopy → organ assessment (HRCT, echo, PFTs) → ACR/EULAR 2013 criteria (score ≥9) |
| Summary | Most complex autoimmune disease; fibrosis is the hallmark; scleroderma renal crisis requires immediate ACEi; PAH and ILD are leading causes of death |
12. 🟦 Polymyositis / Dermatomyositis
| Feature | Detail |
|---|---|
| System | Skeletal muscle (PM); skin + muscle (DM) |
| Age Group | PM: adults 40–60; DM: bimodal (children 5–15 and adults 40–60); F:M = 2:1 |
| Key Findings | Proximal muscle weakness (climbing stairs, raising arms), dysphagia, DM: Gottron's papules (knuckles), heliotrope rash (periorbital), shawl sign; Increased malignancy risk (DM) |
| Autoantibodies | Anti-Jo-1 (most common, antisynthetase syndrome), Anti-MDA5, Anti-TIF1-γ (DM + malignancy), Anti-Mi-2, Anti-SRP |
| Blood | CK markedly elevated (10–100× normal), ↑AST/ALT, ↑LDH, aldolase elevated; CBC: mild anaemia; myoglobinuria |
| Key Investigations | CK, Aldolase, LDH, ANA + myositis-specific antibodies, MRI muscle (oedema), EMG (myopathic changes), muscle biopsy, ECG, pulmonary function (ILD), cancer screening (DM) |
| Differential Diagnosis | Muscular dystrophy, Hypothyroid myopathy, Drug-induced myopathy (statins, steroids), Inclusion body myositis, Necrotising autoimmune myopathy, Motor neuron disease |
| Treatment | Prednisolone (1mg/kg/day); Steroid-sparing: Azathioprine, Methotrexate, Mycophenolate; Refractory: IVIG, Rituximab, Tacrolimus; ILD: Cyclophosphamide, Nintedanib |
| Contraindications | High-dose steroids long-term: osteoporosis, diabetes, infections; IVIG: IgA deficiency (anaphylaxis risk), renal failure (sucrose-based); Methotrexate: ILD (can worsen) |
| OPD Management | CK monitoring, physiotherapy (avoid overexertion), annual cancer screening (DM), pulmonary function, cardiac monitoring |
| ICU Management | Respiratory failure (ILD or pharyngeal weakness) → mechanical ventilation; Rhabdomyolysis → aggressive IV fluids, monitor renal function, urine output; Cardiac myositis → monitoring, antiarrhythmics |
| Nutrition | High protein diet (muscle recovery), dysphagia management (soft diet/NG tube), calcium + Vit D, anti-inflammatory diet |
| Flow of Diagnosis | Proximal weakness + ↑CK → ANA + myositis antibodies → MRI muscle → EMG → muscle biopsy → confirm → malignancy screen (DM) |
| Summary | PM/DM are inflammatory myopathies; DM has distinct skin findings and malignancy association; CK is the key activity marker |
13. 🩻 Goodpasture's Syndrome (Anti-GBM Disease)
| Feature | Detail |
|---|---|
| System | Kidney + Lung (pulmonary-renal syndrome) |
| Age Group | Bimodal: Men 20–30 and 60–70 yrs |
| Key Findings | Haemoptysis (massive), haematuria, rapidly progressive glomerulonephritis (RPGN), pulmonary haemorrhage |
| Autoantibodies | Anti-GBM antibodies (against α3 chain of type IV collagen in glomerular and alveolar basement membrane) |
| Blood | Anaemia (haemorrhagic), ↑creatinine (rapidly rising), haematuria + proteinuria on urinalysis; ANCA may coexist (double-positive = worse prognosis) |
| Key Investigations | Anti-GBM antibodies (serum), ANCA (pANCA/cANCA), urinalysis, renal biopsy (linear IgG deposits on GBM — "linear pattern"), CXR/HRCT (bilateral infiltrates), lung function |
| Differential Diagnosis | ANCA-associated vasculitis (GPA, MPA), SLE nephritis, IgA nephropathy, Idiopathic pulmonary haemosiderosis |
| Treatment | Emergency: Plasma exchange (14 sessions over 2 weeks, removes anti-GBM antibodies); Prednisolone + Cyclophosphamide; Dialysis if severe renal failure |
| Contraindications | Smoking (major trigger of pulmonary haemorrhage — absolute CI); Plasma exchange: active bleeding (relative); Immunosuppression in active uncontrolled infection |
| OPD Management | Anti-GBM antibody titre monitoring, renal function, long-term immunosuppression, smoking cessation (MANDATORY), annual chest review |
| ICU Management | Pulmonary haemorrhage → intubation, mechanical ventilation, haemostasis support; Acute kidney injury → haemofiltration/dialysis; Anti-GBM crisis → urgent plasma exchange |
| Nutrition | High protein (nephrotic losses), fluid restriction (ESKD), phosphate restriction, Vitamin D supplementation |
| Flow of Diagnosis | Haemoptysis + haematuria → Anti-GBM antibody (serum) → renal biopsy (linear IgG) → confirm → treat emergently |
| Summary | Rare but rapidly fatal without treatment; anti-GBM antibody is pathognomonic; renal biopsy shows linear immunofluorescence; smoking is the key trigger |
14. 🌸 Immune Thrombocytopenic Purpura (ITP)
| Feature | Detail |
|---|---|
| System | Platelets |
| Age Group | Children (acute, post-viral, self-limiting) and adults (chronic); F:M 3:1 in adults |
| Key Findings | Petechiae, purpura, easy bruising, mucosal bleeding, menorrhagia; spleen normal or mildly enlarged |
| Autoantibodies | Anti-platelet antibodies (anti-GPIIb/IIIa, anti-GPIb/IX) |
| Blood | Platelets markedly ↓ (<100×10⁹/L), RBC normal (unless haemorrhagic anaemia), WBC normal; peripheral blood smear: isolated thrombocytopenia, no fragmented RBCs |
| Key Investigations | CBC + blood smear (exclude TTP/HUS), bone marrow biopsy (if atypical/refractory — shows megakaryocyte hyperplasia), HIV/HCV serology, H. pylori testing, ANA, TSH |
| Differential Diagnosis | TTP (ADAMTS13 deficiency), HUS (Shiga toxin), Drug-induced thrombocytopenia (heparin-HIT, quinine), Aplastic anaemia, Bone marrow infiltration, Gestational thrombocytopenia |
| Treatment | Observation (plt >30, no bleeding); Prednisolone; IVIG (2g/kg — rapid response); Anti-D immunoglobulin (Rh+); Thrombopoietin agonists (Romiplostim, Eltrombopag); Rituximab; Splenectomy (refractory) |
| Contraindications | Splenectomy: risk of overwhelming post-splenectomy infection (OPSI) — ensure vaccinated (pneumococcus, meningococcus, Hib) pre-operatively; IVIG: IgA deficiency |
| OPD Management | Platelet count monitoring, avoid NSAIDs/antiplatelet drugs, menstrual management, vaccination before splenectomy |
| ICU Management | Intracranial haemorrhage (plt <10 or bleeding) → emergency IVIG + IV methylprednisolone + platelet transfusion; emergency splenectomy if platelet transfusion refractory |
| Nutrition | Iron supplementation if anaemic, adequate Vitamin K intake, avoid alcohol |
| Flow of Diagnosis | Thrombocytopenia on CBC → blood smear (isolated, no schistocytes) → exclude secondary causes (HIV, HCV, SLE, drugs) → diagnosis of exclusion → confirm ITP |
| Summary | Most common autoimmune bleeding disorder; diagnosis of exclusion; in children often self-limiting; in adults often chronic and requires therapy |
15. 🔮 Autoimmune Haemolytic Anaemia (AIHA)
| Feature | Detail |
|---|---|
| System | Red blood cells |
| Age Group | All ages; warm AIHA more common in adults; cold agglutinin disease in older adults |
| Key Findings | Pallor, jaundice, fatigue, splenomegaly; haemoglobinuria (cold type); can be primary or secondary (SLE, CLL, medications) |
| Autoantibodies | Warm: IgG anti-RBC (react at 37°C); Cold: IgM anti-RBC (react <30°C, anti-I specificity) |
| Blood | RBC ↓ (haemolytic anaemia), ↑bilirubin (unconjugated), ↑LDH, ↓haptoglobin, reticulocytosis, spherocytes on smear; Direct Coombs test (DAT) POSITIVE |
| Key Investigations | DAT (Coombs test), CBC + reticulocyte count, blood smear, bilirubin + LDH + haptoglobin, cold agglutinin titres, ANA (secondary cause), LDH |
| Differential Diagnosis | Microangiopathic haemolytic anaemia (TTP, HUS), G6PD deficiency, Hereditary spherocytosis, Sickle cell, Paroxysmal nocturnal haemoglobinuria (PNH) |
| Treatment | Warm AIHA: Prednisolone → Rituximab → Splenectomy; Cold AIHA: Rituximab (preferred), avoid cold, treat underlying cause; Transfusion only if life-threatening (cross-match difficult) |
| Contraindications | Splenectomy in cold AIHA (ineffective); Avoid cold exposure (cold type); Rituximab: hepatitis B reactivation risk — screen first |
| OPD Management | Haemoglobin and reticulocyte monitoring, Coombs titre, folic acid supplementation (haemolysis), treat underlying disease |
| ICU Management | Severe haemolysis + haemodynamic instability → urgent blood transfusion (best match), IV methylprednisolone, IVIG, plasmapheresis (cold type); Renal failure (haemoglobinuria) → hydration |
| Nutrition | Folic acid 5mg/day (haemolytic anaemia), iron if deficient, adequate protein |
| Flow of Diagnosis | Haemolytic anaemia → DAT (Coombs+) → warm vs cold type → blood smear → secondary cause screen → treatment based on type |
| Summary | DAT-positive haemolytic anaemia; warm type (IgG) responds to steroids/splenectomy; cold type (IgM) responds to rituximab |
16. 🧡 Autoimmune Hepatitis (AIH)
| Feature | Detail |
|---|---|
| System | Liver |
| Age Group | Bimodal: Girls 10–20 (Type 1 & 2) and Women 40–60 (Type 1); F:M = 4:1 |
| Key Findings | Fatigue, jaundice, amenorrhoea, acne, elevated transaminases; can present as acute liver failure; Type 1 (ANA+, ASMA+); Type 2 (Anti-LKM1+) |
| Autoantibodies | Type 1: ANA + Anti-smooth muscle antibody (ASMA); Type 2: Anti-LKM1 (liver-kidney microsomal); Anti-SLA/LP (soluble liver antigen) |
| Blood | ↑↑ALT/AST (10–100× normal), ↑IgG (hypergammaglobulinaemia), ↑bilirubin, prolonged PT; CBC: normocytic anaemia, thrombocytopenia (hypersplenism in cirrhosis) |
| Key Investigations | LFTs, IgG, ANA + ASMA + Anti-LKM1, liver biopsy (interface hepatitis, plasma cell infiltrate — confirmatory), liver ultrasound/Fibroscan |
| Differential Diagnosis | Viral hepatitis (Hep A/B/C/E), Drug-induced liver injury (DILI), Primary biliary cholangitis (PBC), Primary sclerosing cholangitis (PSC), Wilson's disease, Alpha-1 antitrypsin deficiency |
| Treatment | Prednisolone 40–60 mg/day → taper; Azathioprine (steroid-sparing, maintenance); Mycophenolate (Azathioprine intolerant); Liver transplantation (acute liver failure/cirrhosis) |
| Contraindications | Azathioprine: TPMT deficiency (myelosuppression risk), pregnancy; Steroids: osteoporosis, uncontrolled diabetes, infection |
| OPD Management | LFT monitoring, IgG levels (remission marker), biennial liver biopsy (histological remission), DEXA scan, Hepatocellular carcinoma surveillance (cirrhosis) |
| ICU Management | Acute liver failure → N-acetylcysteine, IV steroids (Methylprednisolone), lactulose (encephalopathy), urgent liver transplant assessment; coagulopathy → FFP/Vitamin K |
| Nutrition | High protein diet (liver disease), avoid alcohol completely, Vitamin D + Calcium, avoid hepatotoxic supplements |
| Flow of Diagnosis | Elevated transaminases + ↑IgG → ANA/ASMA/Anti-LKM1 → exclude viral hepatitis + DILI → liver biopsy (interface hepatitis) → IAIHG score ≥15 → confirm AIH |
| Summary | Interface hepatitis is hallmark on biopsy; hypergammaglobulinaemia (IgG) is key; responds well to steroids; avoid withdrawal (relapse) |
17. 💜 Primary Biliary Cholangitis (PBC)
| Feature | Detail |
|---|---|
| System | Intrahepatic bile ducts |
| Age Group | Middle-aged women 40–60 yrs; F:M = 10:1 |
| Key Findings | Pruritus (often first symptom), fatigue, jaundice (late), xanthomata, hepatosplenomegaly |
| Autoantibodies | Anti-mitochondrial antibodies (AMA) — >95% sensitive and specific (M2 subtype) |
| Blood | ↑↑ALP (most sensitive), ↑GGT, ↑bilirubin (late), ↑IgM, ↑cholesterol; normocytic anaemia |
| Key Investigations | AMA (M2), LFTs (↑ALP), IgM, liver biopsy (granulomatous bile duct destruction), fibroscan, MRCP (exclude biliary obstruction), ANA (anti-sp100, anti-gp210 in AMA-negative PBC) |
| Differential Diagnosis | PSC (MRCP shows bead-like strictures), AIH, Drug-induced cholestasis, Sarcoidosis, Biliary obstruction, Overlap syndrome |
| Treatment | Ursodeoxycholic acid (UDCA — first-line, slows progression); Obeticholic acid (inadequate UDCA response); Bezafibrate (add-on); Liver transplant (end-stage); Pruritus: Cholestyramine, Rifampicin, Naltrexone |
| Contraindications | Cholestyramine: fat-soluble vitamin malabsorption (if >4g/day — space medications); Obeticholic acid: decompensated cirrhosis |
| OPD Management | Annual LFTs + alkaline phosphatase, DEXA (osteoporosis risk), fat-soluble vitamins (A, D, E, K), HCC surveillance if cirrhosis, varices screening |
| ICU Management | Decompensated cirrhosis → variceal bleeding (banding/terlipressin/Sengstaken tube), hepatorenal syndrome → terlipressin + albumin, hepatic encephalopathy |
| Nutrition | Fat-soluble vitamins (A, D, E, K), calcium supplementation, low salt (ascites), cholesterol control |
| Flow of Diagnosis | Pruritus + ↑ALP → AMA (M2) → liver biopsy (granulomatous bile duct destruction) → if AMA negative: ANA anti-sp100/gp210 → confirm PBC |
| Summary | AMA is virtually diagnostic; UDCA is the mainstay; pruritus is often the presenting symptom; liver transplant for end-stage disease |
18. 🩺 Antiphospholipid Syndrome (APS)
| Feature | Detail |
|---|---|
| System | Vascular (thrombotic), Obstetric |
| Age Group | Young adults; women; often secondary to SLE |
| Key Findings | Recurrent venous/arterial thrombosis (DVT, PE, stroke), recurrent pregnancy loss (2nd trimester miscarriage), livedo reticularis, thrombocytopenia |
| Autoantibodies | Anticardiolipin (aCL) IgG/IgM, Anti-β2-glycoprotein I (anti-β2GPI), Lupus anticoagulant (LA) |
| Blood | Thrombocytopenia, prolonged APTT (not corrected by mixing — lupus anticoagulant), positive aCL, false-positive VDRL; anaemia if haemolytic |
| Key Investigations | Lupus anticoagulant, aCL IgG/IgM, Anti-β2GPI IgG/IgM (× 2 tests 12 weeks apart to confirm), CBC, ANA (if secondary SLE), Doppler ultrasound (DVT), imaging for thrombosis |
| Differential Diagnosis | Inherited thrombophilia (Factor V Leiden, Protein C/S deficiency), Malignancy-related thrombosis, Heparin-induced thrombocytopenia (HIT), TTP, SLE |
| Treatment | Venous thrombosis: Anticoagulation (Warfarin, target INR 2–3; DOAC as alternative); Arterial thrombosis: Warfarin (INR 3–4) ± aspirin; Obstetric APS: Low-dose aspirin + LMWH; Catastrophic APS: Anticoagulation + steroids + IVIG + plasma exchange |
| Contraindications | DOACs in triple-positive APS (higher thrombosis risk — use Warfarin); Warfarin: pregnancy (weeks 6–12 — embryopathy); LMWH preferred in pregnancy |
| OPD Management | INR monitoring (warfarin), repeat antibody titres, obstetric shared care, cardiovascular risk factor management |
| ICU Management | Catastrophic APS (CAPS) → anticoagulation + high-dose steroids + IVIG + plasmapheresis; multiorgan failure management; stroke → thrombolysis if no anticoagulation |
| Nutrition | Consistent Vitamin K intake (warfarin patients — avoid large swings in leafy greens), fish oil (antiplatelet), adequate hydration (thrombosis prevention) |
| Flow of Diagnosis | Thrombosis/miscarriage → APL antibodies × 2 (12 weeks apart) → Sapporo criteria (clinical + lab) → triple-positive = highest thrombosis risk |
| Summary | Thrombotic + obstetric syndrome; lupus anticoagulant is most specific; triple-positive has highest thrombosis risk; anticoagulation is life-long |
19. 🌙 Addison's Disease (Autoimmune Adrenal Insufficiency)
| Feature | Detail |
|---|---|
| System | Adrenal cortex |
| Age Group | Adults 30–50 yrs; F:M = 2:1 |
| Key Findings | Fatigue, weight loss, hyperpigmentation (buccal mucosa, skin folds, scars), hypotension, salt craving, nausea, vomiting |
| Autoantibodies | Anti-21-hydroxylase (anti-adrenal cortex antibodies — most specific) |
| Blood | ↓Sodium (hyponatraemia), ↑Potassium (hyperkalaemia), ↓Glucose (hypoglycaemia), ↑ACTH, ↓Cortisol; anaemia (normocytic), eosinophilia, lymphocytosis |
| Key Investigations | 9am cortisol (<100 nmol/L highly suggestive), Short Synacthen test (ACTH stimulation — impaired cortisol response confirms PAI), ACTH level (↑ in primary), Anti-21-hydroxylase antibodies, adrenal CT (exclude TB/malignancy), electrolytes |
| Differential Diagnosis | Secondary adrenal insufficiency (pituitary disease — ↓ACTH, no hyperpigmentation), TB adrenalitis, Metastatic adrenal disease, Adrenal haemorrhage (Waterhouse-Friderichsen) |
| Treatment | Hydrocortisone (cortisol replacement: 15–25mg/day in divided doses — simulate diurnal rhythm) + Fludrocortisone (mineralocorticoid); Sick-day rules (double/triple dose during illness); Emergency: Hydrocortisone 100mg IV/IM |
| Contraindications | Insufficient dosing during illness/surgery (adrenal crisis risk); Fluconazole (↓cortisol synthesis); Rifampicin, phenytoin (↑cortisol metabolism — need higher doses); Fludrocortisone: avoid in heart failure/severe hypertension |
| OPD Management | Annual electrolytes, 09:00 cortisol (dose adequacy), DEXA scan (steroid osteoporosis), Steroid emergency card/medic-alert bracelet, screen for associated autoimmune diseases (thyroid, T1DM) |
| ICU Management | Adrenal crisis (life-threatening): Hydrocortisone 100mg IV bolus → 50–100mg 6-hourly OR 200mg continuous infusion; IV 0.9% NaCl (1–2L rapidly); IV glucose (hypoglycaemia); Identify and treat precipitant |
| Nutrition | High salt diet (inadequate mineralocorticoid effect), adequate calorie intake, calcium + Vit D (glucocorticoid replacement) |
| Flow of Diagnosis | Fatigue + hyperpigmentation + electrolyte abnormalities → 9am cortisol → Short Synacthen test → ACTH level (↑ = primary) → Anti-21OH antibodies → adrenal CT |
| Summary | Primary adrenal insufficiency; cortisol + aldosterone deficiency; hyperpigmentation due to ↑ACTH/MSH cross-reaction; adrenal crisis is a medical emergency |
20. 🌼 Vitiligo
| Feature | Detail |
|---|---|
| System | Skin (melanocytes) |
| Age Group | Any age; peak onset 10–30 yrs; F = M |
| Key Findings | Well-demarcated depigmented macules (chalk-white patches), Koebner phenomenon, periorbital/periorificial/genital predilection; segmental or non-segmental |
| Autoantibodies | Anti-melanocyte antibodies; associated with Anti-TPO (thyroid), Anti-21-OH (Addison's) in polyendocrine syndromes |
| Blood | Usually normal; screen: TFTs, fasting glucose, cortisol, ANA (associated autoimmune conditions); Vit B12 level (pernicious anaemia association) |
| Key Investigations | Clinical diagnosis (Wood's lamp — fluorescent white); Biopsy (absence of melanocytes, lymphocytic infiltrate); Screen for associated autoimmune diseases (TFTs, T1DM, ANA) |
| Differential Diagnosis | Pityriasis versicolor, Post-inflammatory hypopigmentation, Pityriasis alba, Chemical leukoderma, Tuberous sclerosis (ash-leaf macules), Albinism |
| Treatment | Topical corticosteroids (1st line limited disease); Topical calcineurin inhibitors (tacrolimus — face/sensitive areas); Narrowband UVB phototherapy (extensive disease); JAK inhibitors (Ruxolitinib cream 1.5% — FDA approved 2022); Systemic: Minipulse steroids (rapidly progressing); Surgical: Melanocyte transplantation (stable segmental) |
| Contraindications | Topical steroids: face/intertriginous areas (skin atrophy — use calcineurin inhibitors instead); Psoralen + UVA (PUVA): pregnancy, children under 10, photosensitive conditions, renal/hepatic failure |
| OPD Management | Sun protection (depigmented skin burns easily — SPF 50+), psychological support/counselling, annual TFTs, glucose |
| ICU Management | Not typically an ICU condition; if presenting with Addisonian crisis (associated Addison's disease) → manage as above |
| Nutrition | Antioxidant-rich diet, Vit B12 if deficient, Copper and Zinc (melanin synthesis), Vit D supplementation, adequate protein |
| Flow of Diagnosis | Depigmented patches → Wood's lamp exam → clinical diagnosis → skin biopsy if uncertain → screen for associated autoimmune diseases |
| Summary | Most common pigment autoimmune disease; primarily cosmetic but associated with serious systemic autoimmune conditions; JAK inhibitor (Ruxolitinib) is the newest approved therapy |
Blood Parameters Summary Table
| Disease | RBC | WBC | Platelets | Key Blood Finding |
|---|---|---|---|---|
| SLE | ↓ (AIHA, Coombs+) | ↓ (lymphopenia) | ↓ (<100K) | Low complement C3/C4 |
| RA | ↓ (normocytic, chronic disease) | ↑ (neutrophilia) | ↑ (reactive thrombocytosis) | ↑ESR, ↑CRP |
| T1DM | Normal | Normal | Normal | ↑HbA1c, ↑glucose, ↓C-peptide |
| Hashimoto's | ↓ (macrocytic/normocytic) | Normal | Normal | ↑TSH, ↓fT4 |
| Graves' | ↓ (mild normocytic) | Normal | Normal | ↓TSH, ↑fT3/fT4 |
| MS | Normal | ↑ lymphocytes in CSF | Normal | Oligoclonal bands (CSF) |
| MG | Normal | Normal | Normal | ↑Anti-AChR (serum) |
| Crohn's | ↓ (microcytic or macrocytic) | ↑ (neutrophilia) | ↑ (reactive) | ↑CRP, ↓albumin, ↓ferritin |
| UC | ↓ (microcytic, blood loss) | ↑ | ↑ (reactive) | ↑CRP, ↑calprotectin |
| Sjögren's | ↓ (normocytic) | ↓ (lymphopenia) | Normal | ↑IgG, ↑ESR |
| Scleroderma | ↓ (MAHA in renal crisis) | Normal | Normal | ↑creatinine in renal crisis |
| PM/DM | ↓ (mild) | Normal | Normal | ↑↑CK, ↑LDH |
| Goodpasture's | ↓↓ (haemorrhage) | ↑ (reactive) | Normal | ↑creatinine, haematuria |
| ITP | Normal | Normal | ↓↓ (<30K in crisis) | Isolated thrombocytopenia |
| AIHA | ↓↓ (haemolytic) | Normal | Normal | +Coombs, ↑bilirubin, ↓haptoglobin |
| AIH | ↓ (mild) | Normal | ↓ (hypersplenism) | ↑↑ALT/AST, ↑IgG |
| PBC | ↓ (mild) | Normal | ↓ (hypersplenism) | ↑↑ALP, ↑IgM |
| APS | ↓ (AIHA possible) | Normal | ↓ (thrombocytopenia) | Prolonged APTT, +aCL |
| Addison's | ↓ (normocytic) | ↑ eosinophilia + lymphocytosis | Normal | ↓Na, ↑K, ↓glucose |
| Vitiligo | Normal | Normal | Normal | Screen: TFTs, glucose, B12 |
ICU Emergency Summary
| Disease | ICU Emergency | Management Priority |
|---|---|---|
| SLE | Lupus cerebritis / Diffuse alveolar haemorrhage | IV Methylprednisolone + Cyclophosphamide; ventilate |
| RA | Cricoarytenoid arthritis / C1-C2 subluxation | Secure airway (awake fibreoptic intubation) |
| T1DM | Diabetic ketoacidosis (DKA) | IV fluids + insulin infusion + K+ replacement |
| Graves' | Thyroid storm | PTU + Lugol's iodine + propranolol + dexamethasone |
| MS | Acute severe relapse / NMO crisis | IV methylprednisolone; plasma exchange (NMO) |
| MG | Myasthenic crisis | BiPAP/intubate; IVIG or plasma exchange |
| Crohn's/UC | Toxic megacolon | IV steroids, IV antibiotics, surgical review |
| Goodpasture's | Pulmonary haemorrhage + RPGN | Plasma exchange + cyclophosphamide + dialysis |
| ITP | Intracranial haemorrhage | IVIG + IV methylprednisolone + platelet transfusion |
| Scleroderma | Scleroderma renal crisis | Urgent ACE inhibitor (captopril IV) |
| APS | Catastrophic APS (CAPS) | Anticoagulation + steroids + IVIG + plasmapheresis |
| Addison's | Adrenal crisis | Hydrocortisone 100mg IV bolus + IV saline + glucose |
OPD Monitoring Essentials (All Autoimmune Diseases)
| Parameter | Frequency | Purpose |
|---|---|---|
| Disease activity score | Every visit | Adjust therapy |
| ESR / CRP | Every 3 months | Inflammation marker |
| CBC | Every 3–6 months | Cytopenia (disease or drug) |
| LFTs + Renal profile | Every 3–6 months (DMARD patients) | Drug toxicity |
| DEXA bone density | Every 1–2 years (on steroids) | Osteoporosis screening |
| Fasting glucose / HbA1c | Annual (on steroids) | Steroid-induced diabetes |
| Vaccinations | Annual influenza; 5-yearly pneumococcal | Infection prevention |
| Blood pressure | Every visit (nephritis, renal, steroid) | Hypertension |
| Ophthalmology | Annual (hydroxychloroquine patients) | Macular toxicity |
| Cancer screening | Annual (DM, Sjögren's, IBD) | Malignancy surveillance |
Nutrition Guide for Autoimmune Diseases
| Goal | Recommendation |
|---|---|
| Inflammation reduction | Mediterranean diet, omega-3 fatty acids (fish, flaxseed), coloured vegetables |
| Bone protection (steroid use) | Calcium 1000–1500 mg/day, Vitamin D 800–2000 IU/day |
| Anaemia management | Iron (microcytic), Vitamin B12 + folate (macrocytic), adequate protein |
| Organ-specific disease | Low salt (renal/HTN), low residue (bowel disease in flare), fat-soluble vitamins (cholestatic liver disease) |
| Methotrexate patients | Folic acid 5mg/week (reduce mucositis + hepatotoxicity) |
| General | Avoid smoking and alcohol; maintain healthy BMI; adequate hydration |
Differential Diagnosis — Key Discriminating Tests
| Scenario | Key Test to Discriminate |
|---|---|
| SLE vs RA | Anti-dsDNA (SLE specific) vs Anti-CCP (RA specific) |
| Crohn's vs UC | Colonoscopy pattern (skip vs continuous) + biopsy |
| Hashimoto's vs Graves' | TSH receptor antibodies (TRAb — Graves' only) |
| AIHA vs TTP | Coombs test (AIHA +ve), ADAMTS13 (TTP ↓) |
| Goodpasture's vs GPA | Anti-GBM (Goodpasture's) vs cANCA/PR3 (GPA) |
| MS vs NMO | AQP4 antibody (NMO specific) |
| PM vs DM vs IBM | Biopsy pattern: Perimysial (DM), Endomysial (PM), Rimmed vacuoles (IBM) |
| AIH vs PBC | Anti-smooth muscle (AIH), AMA-M2 (PBC) |
| Addison's vs pituitary AI | ACTH level: ↑ primary (Addison's), ↓ secondary |
Sources & Guidelines:
- Janeway's Immunobiology 10e — Classification, pathogenesis
- Harrison's Principles of Internal Medicine 22E (2025) — Clinical criteria, management
- Robbins & Kumar Basic Pathology — Pathological findings
- Henry's Clinical Diagnosis and Management by Laboratory Methods — Laboratory diagnosis
- Brenner & Rector's The Kidney — Immunosuppressive strategies, renal complications
- EULAR SLE Management Recommendations 2023 Update — PMID 38777375
- JCR RA Guidelines Meta-Analysis 2024 — PMID 38814660
- Core RA Care Recommendations Systematic Review — PMID 37291382
30 types female gynecological and obstetrics disease system all ages group disease treatment investigation finding differential diagnosis contraindications ICU and OPD and blood RBC WBC platelet nutrition flute of diagnosis summary
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