Case history
Case history
A 30-year-old man presents with fever and sore throat of 2 days' duration. He reports several weeks of increasing fatigue and exertional dyspnoea, as well as easy bruising. Examination reveals tachycardia, evidence of tonsillopharyngitis, and scattered ecchymoses.
Other presentations
Acquired aplastic anaemia (AA) typically presents with symptoms and signs referable to peripheral cytopenias. There are no pathognomonic presenting features. The finding of other abnormalities on examination, in particular splenomegaly, should suggest an alternative diagnosis.
It is important to look for features (e.g., young age, short stature) that may suggest one of the following inherited marrow failure syndromes: Fanconi anaemia, dyskeratosis congenita, Shwachman-Diamond syndrome, or GATA2 deficiency. Pigmentation abnormalities (most classically cafe au lait spots), hearing defects, macrocytosis, urogenital abnormalities, or solid tumours occurring at an unusually young age suggest Fanconi anaemia.[7] Nail malformations, reticular rash, oral leukoplakia, epiphora, pulmonary fibrosis/familial pulmonary fibrosis, cirrhosis, non-cirrhotic portal hypertension, cryptic liver disease, osteoporosis, premature hair loss or greying, oesophageal strictures, or extensive dental caries or loss may suggest dyskeratosis congenita.[8] Exocrine pancreatic insufficiency, liver abnormalities, and skeletal dysplasia occur in Shwachman-Diamond syndrome.[9] Persistent warts, chronic infections (e.g., non-tuberculous mycobacterial infections), deafness, chronic lymphoedema, and pulmonary dysfunction (e.g., pulmonary alveolar proteinosis) may suggest GATA2 deficiency.[10][11] A family history of these abnormalities and increased incidence of cancers may also suggest an inherited marrow failure syndrome. It is increasingly recognised that patients with inherited marrow failure syndrome, especially adults, usually present without any peripheral stigmata related to the underlying bone marrow failure, and are often misdiagnosed as having acquired AA.
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