📋 MOCK OSCE · FCPS, MCPS, MD PAEDIATRICS ⏱ 10 min · HEMOPHILIA

Hemophilia A / B

Candidate task: perform focused examination on a child with suspected hemophilia (bleeding disorder).
Then discuss differential diagnosis, investigations, management & follow‑up.
Pre‑exam Protocol
⏤ · Wash, Warm, Introduce, Position, Expose, Approach ▾

Standard pre‑examination protocol – must be demonstrated:

🖐 Wash hands with sterilizing solution.
🔥 Warm hands and stethoscope.
👋 Introduce yourself to child & parent.
🧍 Position child: supine, sitting, then left lateral (for spleen palpation).
👕 Exposure — chest, abdomen, limbs; warm environment.
➡️ Approach from the right side.
✔ CPSP marker: Pre‑exam Protocol is observed and scored.
1. Clinical Examination (≈6 min)
02 General Look (Inspection from end of bed) ▾

Key observations:

  • Colour: pallor (anaemia from bleeding), jaundice (uncommon).
  • Skin: ecchymoses, hematomas (subcutaneous, intramuscular).
  • Joints: swelling, deformity (hemarthrosis – target joints).
  • Muscles: atrophy, contractures (chronic bleeding).
  • Activity: limping, reduced mobility.
👁 Red flags: hemarthrosis + muscle hematomas + easy bruising + family history (X‑linked) → hemophilia.
03 Systemic Haematological Examination ▾

Focused examination:

  • Skin: petechiae (uncommon – suggest platelet disorder), ecchymoses, hematomas, poor wound healing.
  • Joints: hemarthrosis – knees, ankles, elbows (swollen, tender, warm, restricted movement).
  • Muscles: intramuscular hematomas (iliopsoas – flexion deformity).
  • Abdomen: no hepatosplenomegaly (unless complications).
  • Lymph nodes: lymphadenopathy is absent.
  • Oral: mucosal bleeding, gum bleeding, frenulum tear.
  • Neurological: signs of intracranial haemorrhage (if severe).
🔍 Key: hemarthrosis + muscle hematomas + normal platelet count + prolonged aPTT → hemophilia.
04 General Physical Exam (Hands → Face → Chest → Limbs) ▾

Systematic examination:

  • Hands: pallor, ecchymoses, joint deformities (arthropathy).
  • Face: conjunctival pallor, mucosal bleeding.
  • Chest: normal; flow murmur if anaemic.
  • Pulses: normal.
  • Blood pressure: usually normal.
  • Abdomen: no organomegaly.
  • Joints: assess range of motion, swelling, deformities (chronic hemarthrosis).
  • Lower limbs: muscle atrophy, contractures.
📏 Anthropometry: weight, length – plot growth; may be normal.
05 Developmental Assessment & Associated Signs ▾

Assess:

  • Motor milestones: may be delayed (chronic joint disease, pain).
  • Growth: may be affected by chronic arthropathy.
  • Family history: X‑linked recessive; maternal uncles, brothers affected.
  • Complications: chronic arthropathy, muscle atrophy, contractures, pseudotumours.
  • Psychosocial: impact of chronic disease, school absenteeism, activity restriction.
🧠 Key: hemophilia is an X‑linked disorder – family history is crucial.

📋 Case Presentation – (fill in during exam)

This is a _____-year-old male, referred for _____ (bleeding / joint swelling / easy bruising). On examination, the child appears _____ (well / pale / lethargic), with _____ (ecchymoses / hematomas / joint swelling). Joint examination: _____ (swollen, tender, restricted) – target joint. Abdomen: no organomegaly. Cardiovascular: flow murmur _____. Growth: weight _____ percentile, height _____ percentile. Associated signs: _____ (muscle atrophy / contractures / pseudotumour).

2. Viva Discussion (≈4 min)
06 Viva · Differential, Investigations, Management, Follow‑up ▾
🔹 Differential Diagnosis

• Hemophilia A (FVIII deficiency) – X‑linked, most common.
• Hemophilia B (FIX deficiency) – X‑linked, less common.
• Von Willebrand disease – mucocutaneous bleeding, autosomal dominant.
• Factor XI deficiency – autosomal recessive, mild bleeding.
• Platelet function disorders (Glanzmann, Bernard‑Soulier) – petechiae, mucocutaneous.
• Vitamin K deficiency – acquired, prolonged PT/PTT.
• Disseminated intravascular coagulation (DIC) – acute, consumptive.
• Liver disease – acquired factor deficiency.
• Child abuse – bruises with normal coagulation studies.

🔹 Investigations – Diagnosis

• Complete blood count: normal platelet count, hemoglobin may be low (if bleeding).
• Prothrombin time (PT): normal.
• Activated partial thromboplastin time (aPTT): prolonged (mild cases may be normal).
• Mixing study: corrects with normal plasma (factor deficiency, not inhibitor).
• Factor VIII assay: low (<50% – mild; <1% – severe).
• Factor IX assay: low (hemophilia B).
• von Willebrand factor (VWF): normal (to exclude VWD).
• Genetic testing: F8/F9 gene mutations.

🔹 Investigations – Aetiology

• Family history: X‑linked inheritance; affected males, carrier females.
• Carrier testing: FVIII/FIX assays in female relatives; genetic testing.
• Prenatal diagnosis: CVS or amniocentesis (if family history).
• Inhibitor screen (Bethesda assay): if poor response to factor replacement.

🔹 Investigations – Exclude Others

• Platelet function tests: if platelet disorder suspected.
• VWF antigen & activity: to exclude VWD.
• Factor XI assay: if family history suggests.
• Liver function tests: to exclude liver disease.
• Vitamin K levels: if deficiency suspected.

🔹 Investigations – Rule Out Complications

• Inhibitor screen (Bethesda): monitor for alloantibodies.
• Imaging (joints): MRI / X‑ray for arthropathy.
• Ultrasound: for muscle hematomas (iliopsoas).
• HIV / Hepatitis screening: if previously treated with plasma‑derived products.
• Iron studies: if transfusion‑dependent.

🔹 Management – Across Organ Systems

Acute Bleeding – Joints

Factor replacement (FVIII/FIX) to achieve hemostatic levels (50‑80%). Immobilization, ice, analgesia.

Acute Bleeding – Muscle / Soft Tissue

Factor replacement; monitor for compartment syndrome (iliopsoas).

Prophylaxis

Regular factor infusions (2‑3 times/week) to prevent joint bleeds; starting early in severe hemophilia.

Inhibitor Management

Bypassing agents (rFVIIa, aPCC); immune tolerance induction (ITI) with high‑dose factor.

Replacement Products

Recombinant FVIII/FIX (preferred); plasma‑derived (if no recombinant available).

Desmopressin (DDAVP)

For mild hemophilia A (if responsive); useful for minor bleeds/surgery.

Antifibrinolytics

Tranexamic acid / aminocaproic acid – for mucosal bleeding (dental, epistaxis).

Joint Health

Physiotherapy, pain management, orthopaedic intervention (synovectomy, arthroplasty).

Gene Therapy

Emerging; valoctocogene roxaparvovec (FVIII) – single infusion; long‑term efficacy under study.

Psychosocial

Counseling, school support, activity modification (avoid contact sports).

📈 Prognosis

  • Severe hemophilia (without prophylaxis): chronic arthropathy, disability by adolescence.
  • With prophylaxis: near‑normal joint function, reduced bleeding episodes.
  • Inhibitor development: 20‑30% (FVIII) / 3‑10% (FIX) – major complication.
  • Gene therapy: promising; may offer cure (ongoing trials).
  • Life expectancy: near‑normal with modern care (if no HIV/HCV).

📋 Follow‑up Schedule

  • Monthly: clinical assessment, joint function, inhibitor screen (if on prophylaxis).
  • Annual: factor level monitoring, joint imaging (X‑ray / MRI).
  • Annual: hepatitis & HIV screening (if previously treated).
  • Inhibitor screen: every 3‑6 months (high‑risk patients).
  • Comprehensive care: multidisciplinary clinic (haematology, orthopaedics, physiotherapy, dentistry).
💡 Examiner expectation: systematic differential (hemophilia vs VWD vs platelet defects), appropriate investigations (aPTT, factor assays, inhibitor screen), and comprehensive management (replacement, prophylaxis, inhibitor management, joint protection). Know the X‑linked inheritance pattern and the importance of multidisciplinary care.
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Mock OSCE · Hemophilia · Based on Wyne‑Harris, Nelson & Paediatric Haematology