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Fanconi Anaemia — RACP Adult Medicine MCQ

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HardHaematologyFanconi AnaemiaRACP Adult Medicine

A 22-year-old man presents with recurrent infections and oral ulcers since childhood. He has short stature, skeletal anomalies (absent thumbs bilaterally), café-au-lait spots, and microcephaly. FBE shows pancytopenia with macrocytosis. Bone marrow is hypocellular. Chromosomal breakage testing with diepoxybutane (DEB) shows increased chromosome breakage. What is the most likely diagnosis?

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Correct answer: D — Aplastic anaemia

Pancytopenia with skeletal anomalies (radial/thumb defects), short stature, café-au-lait spots, and increased chromosomal breakage on DEB testing is Fanconi anaemia — an inherited bone marrow failure syndrome. It has a high risk of progressing to MDS/AML and solid tumours (head and neck SCC). Allogeneic SCT is the definitive treatment for marrow failure. [Best-fit among options as aplastic anaemia; Fanconi is a specific inherited form]

Reference: BSH – 2024 – Inherited BMF Syndromes; IBMFS 2024