Ghosal hematodiaphyseal dysplasia (GHD) is a rare disorder characterized by severe anemia and painful cortical hypertrophy of long bones.
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NSAIDs have been shown to be an effective first-line treatment for GHD, providing significant hemoglobin and platelet responses without major adverse effects.
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Patients treated with NSAIDs achieved hemoglobin responses within a median of 3 months and platelet responses within 2 months.
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Bone marrow biopsies in GHD patients revealed severe hypoplasia and interstitial edema, complicating diagnosis and treatment.
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Screening for TBXAS1 mutations should be standard in inherited bone marrow failure syndromes, especially before hematopoietic stem cell transplantation.