Case history
Case history
A 30-year-old man presents with fever and sore throat of 2 days' duration. He reports several months of increasing fatigue and exertional dyspnea, as well as easy bruising. Examination reveals tachycardia, evidence of tonsillopharyngitis, and scattered ecchymoses.
Other presentations
Acquired 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 anemia, dyskeratosis congenita, Shwachman-Diamond syndrome, or GATA2 deficiency. Pigmentation abnormalities (most classically cafe au lait spots), hearing defects, macrocytosis, urogenital abnormalities, or solid tumors occurring at an unusually young age suggest Fanconi anemia.[4] Nail malformations, reticular rash, oral leukoplakia, epiphora, pulmonary fibrosis/familial pulmonary fibrosis, cirrhosis, noncirrhotic portal hypertension, cryptic liver disease, osteoporosis, premature hair loss or graying, esophageal strictures, or extensive dental caries or loss may suggest dyskeratosis congenita.[5] Exocrine pancreatic insufficiency, liver abnormalities, and skeletal dysplasia occur in Shwachman-Diamond syndrome.[6] Persistent warts, chronic infections (e.g., nontuberculous mycobacterial infections), deafness, chronic lymphedema, and pulmonary dysfunction (e.g., pulmonary alveolar proteinosis) may suggest GATA2 deficiency.[7][8] A family history of these abnormalities and increased incidence of cancers may also suggest an inherited marrow failure syndrome. It is increasingly recognized that patients, especially adults, with inherited marrow failure syndrome 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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