🧬 Section 517 · Fanconi Anemia (FA)

Nelson Textbook of Pediatrics 22nd Edition | Fanconi anemia: inherited bone marrow failure syndrome with DNA repair defect (FA/BRCA pathway). Diagnosis: chromosomal breakage with diepoxybutane (DEB) or mitomycin C (MMC). Congenital anomalies: radial/thumb abnormalities, short stature, hyperpigmentation, renal/ cardiac defects. Progressive pancytopenia, high risk of MDS/AML and solid tumors (SCC of head/neck, vulva, esophagus). Treatment: androgens (oxymetholone, danazol), hematopoietic stem cell transplant (HSCT) with reduced-intensity conditioning.

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📋 30 Clinical Scenarios — Fanconi Anemia

📇 High‑Yield Review Cards (Fanconi Anemia)

🩺 Clinical Recognition: Fanconi Anemia

Select a presentation for diagnostic clues and management.

📋 Stepwise Management of Fanconi Anemia

🔑 Key Principles — Nelson Chapter 517 (FA)
• Diagnosis: Chromosomal breakage study with DEB/MMC on peripheral blood lymphocytes. Skin fibroblasts if somatic mosaicism suspected.
• Genetics: 22 FANC genes (FANCA 60-70%, FANCC 15%, FANCG 10%).
• Hematologic management: Androgens (oxymetholone 2-5 mg/kg/day, danazol) for cytopenias (bridge to HSCT). G-CSF may be used but caution for MDS.
• HSCT: Only curative. Reduced-intensity conditioning (fludarabine + low-dose cyclophosphamide + ATG, no radiation) to reduce toxicity.
• Cancer surveillance: Annual head/neck, skin, gynecologic exams (SCC risk). Avoid radiation when possible.

    ⚡ Reflex Prompts — Clinical Decisions in Fanconi Anemia

    📖 Summary: Fanconi Anemia — Nelson Section 517