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Here are complete solutions to all 10 clinical cases:
Case 1 - Rheumatoid Arthritis
46-year-old female, bilateral hand/wrist pain, morning stiffness >2 hours, ulnar deviation, RF+, Anti-CCP strongly positive
1. Clinical Diagnosis
Rheumatoid Arthritis (RA) - seropositive, moderate-to-severe activity.
Key supporting features: symmetrical inflammatory arthritis of MCP + PIP joints, morning stiffness >2 hours, ulnar deviation, Hb 104 (normocytic anemia of chronic disease), ESR 52, CRP 28, RF positive, Anti-CCP strongly positive, X-ray showing joint space narrowing and marginal erosions.
2. Most Specific Laboratory Marker
Anti-CCP (anti-cyclic citrullinated peptide) antibodies - 98% specific for RA. RF is only ~85% specific (can be positive in SLE, Sjögren's, infections). Anti-CCP positivity also predicts a more aggressive, erosive disease course. (Miller's Review of Orthopaedics, Campbell's Operative Orthopaedics)
3. Treatment
- NSAIDs (naproxen, ibuprofen) for symptom relief
- Low-dose corticosteroids (prednisone 5-10 mg/day) for bridge therapy during flares
- Methotrexate (MTX) - first-line DMARD, 7.5-25 mg/week with folic acid supplementation
- If inadequate response after 3 months: add hydroxychloroquine + sulfasalazine (triple therapy) OR escalate to biologic DMARD (TNF-inhibitor: etanercept, adalimumab; or abatacept, tocilizumab)
- Physical therapy, hand exercises, joint protection
Case 2 - Systemic Lupus Erythematosus (SLE)
29-year-old woman, malar rash, photosensitivity, arthritis, oral ulcers, hair loss, dark urine, proteinuria 1.5 g/day, ANA elevated, Hb 107, WBC 3.1
1. Preliminary Diagnosis
Systemic Lupus Erythematosus (SLE) with lupus nephritis (Class III or IV suspected given nephrotic-range proteinuria approaching 1.5 g/day + ankle edema).
This patient meets ≥4 ACR/EULAR 2019 criteria:
- Malar rash
- Photosensitivity
- Oral ulcers
- Non-erosive arthritis (MCP + knee joints)
- Hair loss
- Hematologic: anemia (Hb 107) + leukopenia (WBC 3.1)
- ANA positive
- Renal: proteinuria 1.5 g/day
2. Additional Diagnostic Tests and Expected Results
| Test | Expected Result |
|---|---|
| Anti-dsDNA antibodies | Elevated (specific for SLE; correlates with disease activity and nephritis) |
| Anti-Smith (anti-Sm) antibodies | Positive (highly specific for SLE) |
| Complement C3 and C4 | Low (consumed by immune complex deposition) |
| Antiphospholipid antibodies (anti-cardiolipin, lupus anticoagulant, anti-beta2-GP1) | May be positive |
| 24-hour urine protein | >3.5 g/day if nephrotic-range nephritis |
| Urine microscopy | Red cell casts, granular casts (active nephritis) |
| Serum creatinine/eGFR | May be elevated |
| Kidney biopsy | Confirms class (likely Class III proliferative or Class IV diffuse proliferative lupus nephritis) |
| CBC with differential | Pancytopenia, lymphopenia |
| Coombs test | Positive (autoimmune hemolytic anemia) |
3. Treatment
- Hydroxychloroquine (HCQ) 200-400 mg/day - backbone therapy for all SLE patients; reduces flares and organ damage
- Corticosteroids (prednisone 0.5-1 mg/kg/day) for active disease; taper once remission achieved
- For lupus nephritis Class III/IV (induction): Mycophenolate mofetil (MMF) 2-3 g/day OR IV cyclophosphamide (NIH or Euro-Lupus protocol) + high-dose steroids
- Maintenance: MMF 1-2 g/day or azathioprine 2 mg/kg/day
- Belimumab (anti-BLyS biologic) - approved add-on for active SLE
- ACE inhibitor/ARB for renoprotection (reduce proteinuria)
- Sun avoidance, SPF sunscreen, calcium + vitamin D supplementation
Case 3 - Nephrotic Syndrome (Membranoproliferative GN)
38-year-old woman, swollen eyes and feet, 2+ pitting edema at ankles and periorbital, proteinuria, low serum C3, "tram-tracking" on kidney biopsy, BP 168/83
1. Diagnosis
Nephrotic Syndrome secondary to Membranoproliferative Glomerulonephritis (MPGN) - specifically suggested by:
- Pitting edema (periorbital + ankle) = nephrotic features
- Proteinuria (urinalysis positive for protein)
- Low serum C3 = complement pathway activation (classic for MPGN)
- "Tram-tracking" on biopsy = double contour of the GBM due to mesangial interposition - pathognomonic for MPGN
2. Additional Diagnostic Tests and Expected Results
| Test | Expected Result |
|---|---|
| 24-hour urine protein | >3.5 g/day (nephrotic range) |
| Serum albumin | Low (<3.0 g/dL) |
| Lipid profile | Hyperlipidemia (hypercholesterolemia) |
| Serum C3, C4 | C3 low (C4 normal in MPGN Type I; both low in lupus MPGN) |
| Kidney biopsy (already done): Light microscopy | Mesangial hypercellularity, lobular pattern, GBM double contour (tram-tracking) |
| Electron microscopy | Subendothelial deposits (Type I) or intramembranous deposits (Type II/Dense deposit disease) |
| Immunofluorescence | C3 granular deposits ± IgG, IgM |
| ANA, anti-dsDNA, ANCA | Rule out secondary causes (lupus, vasculitis) |
| Hepatitis B, C serologies | Rule out viral cause |
| Serum C3 nephritic factor | Positive in complement-mediated MPGN (C3 glomerulopathy) |
| Urine protein/creatinine ratio | Elevated |
3. Treatment
- General/supportive: ACE inhibitor or ARB (lisinopril/losartan) for proteinuria reduction and BP control; diuretics (furosemide) for edema
- Anticoagulation if severe nephrotic syndrome (albumin <2.5 g/dL) due to hypercoagulable state
- If secondary cause identified (lupus, Hep C): treat the underlying cause
- Immunosuppression (for idiopathic or lupus-related MPGN): Mycophenolate mofetil + steroids
- For C3 glomerulopathy / complement-mediated MPGN: Complement inhibitors (eculizumab) if rapidly progressive
- Statins for hyperlipidemia; dietary sodium restriction
Case 4 - Aortic Stenosis
74-year-old man, 3-month history of chest pain + syncope + dyspnea on exertion, CAD + HTN, systolic crescendo-decrescendo murmur best at heart base radiating to carotids
1. Clinical Diagnosis
Severe Aortic Stenosis (AS)
The classic triad of AS symptoms is present: angina, syncope, and dyspnea on exertion. The murmur is classic: harsh systolic crescendo-decrescendo (ejection) murmur at the right 2nd intercostal space (aortic area), radiating to carotids. Without treatment, mean survival after syncope is only 3 years. (Robbins & Kumar; Harrison's)
2. Additional Tests and Expected Results
| Test | Expected Result |
|---|---|
| Echocardiogram (already ordered) | Aortic valve area <1 cm² (severe); mean gradient >40 mmHg; peak velocity >4 m/s; LV hypertrophy; reduced systolic function (if late) |
| ECG | LVH (Sokolow-Lyon criteria); ST-T changes; left bundle branch block possible |
| Chest X-ray | Boot-shaped heart (LV enlargement); post-stenotic aortic dilation; pulmonary congestion if heart failure |
| CT/MRI cardiac | Valve calcium scoring (Agatston score); useful when echo inconclusive |
| Coronary angiography | Assess concomitant CAD (present here) before intervention |
| BNP/NT-proBNP | Elevated if LV decompensation |
| CBC, renal function | Pre-procedure workup |
3. Treatment
Definitive treatment requires valve replacement - medical therapy is ineffective for AS:
- Surgical Aortic Valve Replacement (SAVR): Standard for lower-risk younger patients
- Transcatheter Aortic Valve Implantation (TAVI/TAVR): Preferred for this 74-year-old high-surgical-risk patient with CAD; Class I indication for symptomatic severe AS
- Medical (bridge/adjunct only):
- Treat coexisting HTN cautiously (avoid excessive afterload reduction)
- Diuretics for congestion
- Coronary revascularization (PCI/CABG) as needed for CAD
- Avoid: Vasodilators (nitrates, ACE inhibitors) - can cause severe hypotension in severe AS
- Prophylactic antibiotics for infective endocarditis before dental/surgical procedures
Case 5 - Mitral Stenosis
26-year-old man, frequent sore throats in childhood, painful/swollen knee joints 10 years ago (rheumatic fever), dyspnea on moderate exertion, cyanotic lips, apical impulse V ICS left midclavicular line, diastolic tremor at apex, S1 + opening snap + mesodiastolic murmur at apex, S2 loud on PA, irregular rhythm HR 78, BP 120/70
1. Clinical Diagnosis
Rheumatic Mitral Stenosis with:
- Atrial fibrillation (irregular rhythm - common complication of MS)
- Pulmonary hypertension (loud S2 on pulmonary artery; cyanosis)
History of rheumatic fever (streptococcal sore throat + reactive arthritis) followed by classic features of MS 10 years later: opening snap, mesodiastolic (rumbling) murmur at apex, loud S2 on PA, diastolic thrill (tremor), displaced apex due to LA enlargement.
2. Additional Tests and Expected Results
| Test | Expected Result |
|---|---|
| Echocardiogram (TTE/TEE) | Mitral valve area <1.5 cm² (severe MS); hockey-stick deformity of MV leaflets; LA enlargement; elevated mean mitral gradient; pulmonary HTN |
| ECG | Atrial fibrillation; P-mitrale (if sinus rhythm); RVH; right axis deviation |
| Chest X-ray | LA enlargement (double heart contour, splaying of carina); pulmonary venous congestion; Kerley B lines; mitral valve calcification |
| Cardiac catheterization | Elevated pulmonary capillary wedge pressure; mitral valve gradient |
| ASO titer, CRP, ESR | Evidence of prior streptococcal infection/rheumatic activity |
| CBC | Anemia (if present) |
3. Treatment
- Rate control for AF: Beta-blocker (metoprolol) or digoxin; target HR 60-80/min at rest
- Anticoagulation: Warfarin (INR 2-3) - mandatory in MS + AF due to high stroke risk; NOACs NOT recommended for rheumatic MS+AF
- Diuretics: Furosemide for pulmonary congestion and dyspnea
- Definitive intervention (for severe symptomatic MS, MVA <1.5 cm²):
- Percutaneous Mitral Balloon Commissurotomy (PMBC/PMV): Preferred if anatomy favorable (no significant MR, no LA thrombus, minimal calcification)
- Surgical Mitral Valve Repair or Replacement: If anatomy unfavorable for balloon or severe MR coexists
- Secondary prophylaxis: Benzathine penicillin G 1.2 million units IM every 4 weeks for life (to prevent recurrent rheumatic fever)
Case 6 - Mitral Regurgitation (Rheumatic Heart Disease)
21-year-old, sore throat at age 13 + swollen knee joints; apical impulse V ICS strengthened and diffuse; S1 weakened, systolic murmur at apex radiating to left axillary region; S2 loud on pulmonary artery; HR 84, BP 130/70
1. Clinical Diagnosis
Rheumatic Heart Disease - Mitral Regurgitation (MR)
- History of rheumatic fever at age 13 (streptococcal pharyngitis + reactive arthritis of knee joints)
- Typical MR features: S1 weakened (mitral leaflet fails to close properly), holosystolic murmur at apex radiating to the left axilla, strengthened and diffuse apical impulse (volume-overloaded LV), loud P2 (pulmonary hypertension from chronic MR)
- Age-appropriate onset for rheumatic MR (8-year latency from acute rheumatic fever)
2. Additional Tests and Expected Results
| Test | Expected Result |
|---|---|
| Echocardiogram | Mitral regurgitation jet on color Doppler; thickened, retracted mitral leaflets; LA and LV dilation; preserved or reduced LVEF |
| ECG | LA enlargement (P-mitrale); LVH; possible AF |
| Chest X-ray | Cardiomegaly; LA enlargement; pulmonary congestion |
| ASO titer | Elevated (evidence of prior streptococcal infection) |
| CRP, ESR | Elevated if active rheumatic carditis |
| CBC | Possible anemia |
| Throat culture | Rule out active Group A streptococcal infection |
3. Treatment
- Medical (for asymptomatic MR):
- ACE inhibitor (enalapril) or ARB - reduce afterload
- Beta-blocker if AF develops
- Diuretics if volume overload/congestion
- Secondary prophylaxis: Benzathine penicillin G 1.2 million units IM every 4 weeks (critical - prevents further rheumatic damage to valve)
- Surgical intervention (when symptomatic, or LVEF <60%, or LVESD >45 mm):
- Mitral valve repair (preferred) or replacement
- Surgical referral if progressive LV dilation on serial echo
Case 7 - Hepatic Cirrhosis with Encephalopathy
63-year-old male, alcohol abuse history, found confused and fatigued; jaundice (yellow eyes and skin); asterixis (flapping tremor when arms extended); distended abdomen with muffled bowel sounds, fluid wave (ascites); abdominal masses visible on plain X-ray
1. Preliminary Diagnosis
Alcoholic Liver Cirrhosis with:
- Hepatic Encephalopathy (Grade II-III: confusion, disorientation, asterixis)
- Ascites (fluid wave, distended abdomen)
- Jaundice (icteric sclera and skin)
The combination of alcohol history + jaundice + asterixis + ascites = decompensated cirrhosis. Asterixis is the hallmark of hepatic encephalopathy, caused by elevated ammonia and impaired neurotransmission.
The "abdominal masses" visible in Figure A likely represent dilated bowel loops or omental/peritoneal masses - consider spontaneous bacterial peritonitis (SBP) or hepatocellular carcinoma as complications.
2. Additional Diagnostic Tests and Expected Results
| Test | Expected Result |
|---|---|
| LFTs (AST, ALT, GGT, ALP) | AST > ALT (AST:ALT ratio >2:1 typical for alcohol); elevated GGT (alcohol marker); elevated ALP |
| Total bilirubin | Elevated (jaundice) |
| Albumin | Low (<3.0 g/dL) - marker of synthetic failure |
| PT/INR | Prolonged (clotting factor deficiency) |
| Serum ammonia | Elevated (drives encephalopathy) |
| CBC | Anemia, thrombocytopenia (hypersplenism), leukocytosis if SBP |
| BMP (electrolytes, creatinine, BUN) | Hyponatremia; possible hepatorenal syndrome |
| Abdominal ultrasound | Nodular liver, splenomegaly, ascites, portal vein dilation; screen for HCC |
| Diagnostic paracentesis | Ascitic fluid: SAAG >1.1 g/dL (confirms portal HTN); PMN >250/mm³ = spontaneous bacterial peritonitis |
| AFP (alpha-fetoprotein) | Elevated if hepatocellular carcinoma |
| Blood cultures | Rule out bacteremia/SBP |
| HBsAg, anti-HCV | Rule out viral hepatitis co-infection |
3. Management
Immediate/acute:
- Hepatic encephalopathy: Lactulose 30 mL PO/NG 2-4x/day (titrate to 2-3 soft stools/day); rifaximin 550 mg BID (reduces ammonia-producing gut bacteria); correct precipitating factors (infection, GI bleed, electrolyte imbalance)
- Identify and treat precipitants: GI bleeding (PPI + endoscopy), infection (SBP - if present: cefotaxime 2g IV q8h + albumin 1.5 g/kg IV on Day 1), constipation
- Ascites: Dietary sodium restriction (<2 g/day); spironolactone 100 mg/day + furosemide 40 mg/day; large-volume paracentesis (LVP) with IV albumin replacement if tense ascites
- Nutritional support: High-protein diet (1.2-1.5 g/kg/day); branched-chain amino acids; thiamine supplementation (given alcohol use)
- Abstinence from alcohol - fundamental to halt progression
- Liver transplantation: Evaluate if MELD score >15 and 6-month sobriety
Case 8 - Primary Hyperaldosteronism (Conn's Syndrome)
33-year-old male, headaches + muscle weakness, BP 150/95, Na 146 (high-normal), K 3.0 (hypokalemia)
1. Diagnosis
Primary Hyperaldosteronism (Conn's Syndrome)
The triad of hypertension + hypokalemia + elevated sodium in a young patient is classic. Aldosterone excess causes sodium retention (Na 146) and renal potassium wasting (K 3.0 mEq/L). Muscle weakness is from hypokalemia. BP-resistant or young-onset hypertension should always raise suspicion. (National Kidney Foundation Primer; Goldman-Cecil)
2. Additional Diagnostic Methods
| Test | Expected Result |
|---|---|
| Plasma Aldosterone-to-Renin Ratio (ARR) | >30 ng/dL per ng/mL/hr (screening test of choice); aldosterone elevated, renin suppressed |
| 24-hour urine aldosterone | Elevated (>12 mcg/day) |
| Confirmatory testing: Saline infusion test or fludrocortisone suppression test | Aldosterone fails to suppress (confirms autonomous secretion) |
| CT abdomen/adrenals (thin-cut, 3mm) | Unilateral adrenal adenoma (Conn's adenoma ~35%) OR bilateral adrenal hyperplasia (~60%) OR rarely carcinoma |
| Adrenal Venous Sampling (AVS) | Mandatory before surgery to distinguish unilateral from bilateral disease; lateralization ratio >4:1 = unilateral |
| Serum renin (direct active renin or PRA) | Suppressed (<1 ng/mL/h) |
| Serum aldosterone | Elevated (>15-20 ng/dL) |
| Repeat serum electrolytes | Confirm persistent hypokalemia; metabolic alkalosis (elevated bicarb) |
3. Treatment
- Unilateral adenoma (Conn's adenoma): Laparoscopic adrenalectomy - curative; correct K+ preoperatively
- Bilateral adrenal hyperplasia: Medical management:
- Spironolactone 25-100 mg/day (aldosterone antagonist - first-line) or eplerenone 50-100 mg/day (fewer side effects)
- Potassium replacement
- Additional antihypertensives as needed (CCB, ACE inhibitor)
- Preoperatively / while awaiting surgery:
- Spironolactone + oral potassium chloride to normalize K+
- Target BP <130/80 mmHg
Case 9 - Pheochromocytoma
40-year-old woman, 2-year history of paroxysmal attacks with severe headaches, dizziness, profuse sweating, chills, fear of death, goosebumps, supraventricular tachycardia (SVT), hallucinations; during attack: BP 200/150 mmHg, body temp 38.8°C, pale moist skin; after attack: BP 100/70 mmHg, laboratory and ECG without special pathology
1. Diagnosis
Pheochromocytoma (adrenal medullary catecholamine-secreting tumor)
The classic paroxysmal triad is present: headache + diaphoresis + palpitations/tachycardia in the setting of severe paroxysmal hypertension (BP 200/150 during attacks). The "fear of death" (apprehension), pallor, and spontaneous resolution with BP drop post-attack are characteristic. Episodes lasting minutes to hours with complete normalization between attacks = pheochromocytoma until proven otherwise. (Morgan & Mikhail; Textbook of Family Medicine)
2. Additional Diagnostic Methods
| Test | Expected Result |
|---|---|
| 24-hour urine fractionated metanephrines and catecholamines | Elevated urinary metanephrines (normetanephrine, metanephrine), elevated VMA (vanillylmandelic acid) - most sensitive screening test |
| Plasma free metanephrines | Elevated (sensitivity ~99%; best initial test) |
| CT abdomen/adrenals | Adrenal mass (typically >3 cm, heterogeneous, often with hemorrhage/necrosis); 90% adrenal, 10% extra-adrenal |
| MRI abdomen | T2 hyperintense "light bulb" adrenal mass |
| MIBG scintigraphy (I-123 or I-131) | Functional imaging; uptake confirms catecholamine-secreting tissue; useful for metastatic or extra-adrenal disease |
| PET scan (DOTATATE or FDOPA) | For metastatic pheochromocytoma/paraganglioma |
| Genetic testing (SDHx, VHL, RET, NF1, MAX) | Screen for hereditary syndromes (MEN2, VHL, neurofibromatosis) |
| Urine culture, CBC | Rule out other causes |
3. Treatment
- CRITICAL: Alpha-blockade FIRST before any intervention:
- Phenoxybenzamine (non-selective irreversible alpha-blocker) 10 mg BID, titrated up over 1-2 weeks (preferred); OR
- Doxazosin/prazosin (selective alpha-1 blockers) as alternative
- Goal: BP <130/80 mmHg; allow orthostatic symptoms
- Beta-blockade ONLY after adequate alpha-blockade (10-14 days after):
- Propranolol/metoprolol for tachycardia/arrhythmia
- NEVER give beta-blocker first (paradoxical severe hypertension from unopposed alpha stimulation)
- Volume expansion: High-sodium diet + IV fluids preoperatively to prevent post-resection hypotension
- Definitive treatment: Laparoscopic adrenalectomy (open approach for large/invasive tumors)
- For hypertensive crisis during attack: IV phentolamine (alpha-blocker) or sodium nitroprusside
Case 10 - Coarctation of the Aorta
18-year-old H, sensation of heat and face burning, BP 190/120 mmHg, left border of heart shifted to 2nd ICS, 4-5 cm from sternum; loud heart sounds, regular rhythm; systolic murmur over the aorta; pulse on femoral arteries weakened; pulse on dorsalis pedis and posterior tibial arteries not detected; CBC and urinalysis without pathology
1. Diagnosis
Coarctation of the Aorta
Classic features:
- Hypertension in upper extremities (BP 190/120) with absent/weak lower limb pulses (femoral, dorsalis pedis, posterior tibial) = cardinal finding
- Systolic murmur over the aorta (posterior interscapular area typically)
- Left heart border displacement - LV hypertrophy from chronic pressure overload
- Young patient with severe unexplained hypertension
- The "sensation of heat and face burning" = increased perfusion to upper body; leg weakness/claudication from poor lower body perfusion
2. Additional Diagnostic Methods
| Test | Expected Result |
|---|---|
| Blood pressure in both arms AND both legs | BP upper extremity >> lower extremity (gradient >20 mmHg is significant) |
| Chest X-ray | "Figure 3 sign" (aortic knuckle indentation); rib notching (3rd-8th ribs bilaterally - from enlarged intercostal collateral arteries) |
| Echocardiogram | Narrowing of aortic isthmus; LV hypertrophy; Doppler showing elevated gradient across coarctation; bicuspid aortic valve (associated in 50-80%) |
| CT Angiography or MRI angiography (MRA) | Gold standard for anatomy; exact location, length, and severity of coarctation; collateral vessel mapping |
| ECG | LVH (Sokolow-Lyon criteria) |
| Cardiac catheterization | Measures hemodynamic gradient across coarctation |
| Renal function/urine | Renovascular hypertension assessment |
| Genetic screening | Rule out Turner syndrome (45,X) in females; associated with CoA |
3. Treatment
- Medical (BP control - bridge/adjunct):
- Beta-blockers (metoprolol) - first-line per ACC/AHA guidelines (Frameworks for Internal Medicine)
- ACE inhibitors or ARBs - also recommended
- Control BP to reduce risk of aortic dissection and stroke
- Definitive intervention (recommended when gradient >20 mmHg or significant hypertension):
- Balloon angioplasty with stent placement (endovascular) - preferred in adolescents/adults for native or re-coarctation
- Surgical repair (end-to-end anastomosis, patch aortoplasty, subclavian flap, or bypass graft) - preferred for complex anatomy or very young patients
- Post-intervention: Lifelong surveillance for re-coarctation, persistent hypertension, aortic aneurysm, and associated bicuspid valve disease; continued antihypertensive therapy often needed
Sources: Harrison's Principles of Internal Medicine 22E; Goldman-Cecil Medicine; Braunwald's Heart Disease; Fuster & Hurst's The Heart 15th Ed; Robbins, Cotran & Kumar Pathologic Basis of Disease; Frameworks for Internal Medicine; National Kidney Foundation Primer on Kidney Diseases 8th Ed; Comprehensive Clinical Nephrology 7th Ed; Campbell's Operative Orthopaedics 15th Ed; Miller's Review of Orthopaedics.
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