What is the diagnosis and management for a patient presenting with Raynaud's (Raynaud's phenomenon) phenomenon, iron deficiency anemia, proteinuria, hematuria, non-blanching redness on the foot, petechiae, bilateral friction rub, and fatigue?

Systemic Sclerosis (Scleroderma) with Renal Crisis

This clinical presentation is highly suggestive of systemic sclerosis (scleroderma) with scleroderma renal crisis, requiring immediate ACE inhibitor therapy and urgent rheumatology consultation.

Diagnosis

The constellation of findings points definitively toward systemic sclerosis with multi-organ involvement:

Cardinal Features Present

• Raynaud's phenomenon - A hallmark feature occurring in >90% of systemic sclerosis patients, representing digital vasospasm that can progress to critical ischemia 1, 2

• Renal involvement - Proteinuria and hematuria suggest scleroderma renal crisis, a life-threatening complication characterized by acute kidney injury, malignant hypertension, and microangiopathic hemolytic anemia 2

• Cardiac involvement - Bilateral friction rub indicates pericarditis, which occurs in systemic sclerosis as part of cardiac involvement 3

• Cutaneous vasculitis - Non-blanching redness and petechiae on the foot represent small vessel vasculitis or digital ischemia, consistent with the progressive obliterative microangiopathy of systemic sclerosis 2

• Anemia - Iron deficiency anemia in this context likely reflects chronic disease and possible gastrointestinal involvement (esophageal dysmotility, gastric antral vascular ectasia) 3

Diagnostic Workup Required

• Autoantibody testing - ANA, anti-Scl-70 (anti-topoisomerase), anti-centromere antibodies, and anti-RNA polymerase III (associated with renal crisis) 1, 2

• Inflammatory markers - ESR and CRP to assess disease activity 1

• Nailfold capillaroscopy - Essential for early diagnosis of underlying connective tissue disease, showing characteristic capillary abnormalities in systemic sclerosis 1

• Complete blood count with peripheral smear - To evaluate for microangiopathic hemolytic anemia (schistocytes) suggesting renal crisis 3

• Comprehensive metabolic panel - Assess renal function (creatinine, BUN) and electrolytes urgently 2

• Urinalysis with microscopy - Quantify proteinuria and hematuria; 24-hour urine protein or spot protein-to-creatinine ratio 4

• Blood pressure monitoring - Scleroderma renal crisis typically presents with malignant hypertension 2

Immediate Management

Scleroderma Renal Crisis (if confirmed)

• ACE inhibitors - Start immediately even before blood pressure rises significantly, as this is the only proven therapy to prevent irreversible renal failure and reduce mortality in scleroderma renal crisis 2

• Avoid corticosteroids - High-dose corticosteroids (>15 mg/day prednisone) are a known precipitant of scleroderma renal crisis and should be avoided 2

Raynaud's Phenomenon Management

• Calcium channel blockers - First-line pharmacologic therapy (e.g., nifedipine extended-release 30-60 mg daily) to reduce vasospastic episodes and prevent digital ischemia 5

• Lifestyle modifications - Avoid cold exposure, emotional stress, smoking cessation, and discontinue any vasoconstrictive medications (beta-blockers) 5, 1

• Topical nitrates or phosphodiesterase-5 inhibitors - Second-line options if calcium channel blockers are insufficient 5

Iron Deficiency Anemia

• Investigate gastrointestinal tract - Bidirectional endoscopy (gastroscopy and colonoscopy) is first-line investigation for iron deficiency anemia in adults, along with coeliac disease screening 4

• Iron replacement - Should not be deferred while awaiting investigations; oral iron supplementation (or intravenous if malabsorption suspected from GI involvement) 3, 4

• Ferritin interpretation - In the presence of inflammation (which is likely here), serum ferritin up to 100 μg/L may still indicate iron deficiency; transferrin saturation <16% supports this diagnosis 3

Pericarditis

• NSAIDs and colchicine - Standard treatment for pericarditis, though use cautiously given renal involvement 3

• Echocardiography - Assess for pericardial effusion and cardiac function 2

Critical Pitfalls to Avoid

• Delaying ACE inhibitor therapy - Scleroderma renal crisis requires immediate ACE inhibitor initiation; delay results in irreversible renal failure and increased mortality 2

• Assuming iron deficiency is solely from diet - Full gastrointestinal evaluation is mandatory; systemic sclerosis commonly causes esophageal dysmotility and gastric vascular ectasia leading to chronic blood loss 4

• Missing dual pathology - Complete both upper and lower GI endoscopy even if one reveals a lesion, as 10-15% have dual pathology 4

• Attributing all findings to primary Raynaud's - The presence of proteinuria, hematuria, pericardial friction rub, and petechiae definitively indicates secondary Raynaud's phenomenon requiring investigation for systemic disease 1, 2

Urgent Referrals

• Rheumatology - Immediate consultation for suspected systemic sclerosis with renal crisis 2

• Nephrology - If renal function is deteriorating or dialysis may be needed 2

• Gastroenterology - For bidirectional endoscopy to investigate iron deficiency anemia 4