Fast Five Quiz: Fabry Disease Presentation and Diagnosis

Helmi L. Lutsep, MD


April 06, 2021

Patients with Fabry disease who have type AB or B blood also accumulate blood group B glycosphingolipids (those with alpha-galactosyl–terminated residues) and may develop more severe Fabry disease (related to greater body substrate mass) than patients with blood group A. This is because these blood groups have two additional terminal alpha-galactosyl moieties.

Fabry crises, an early sign of disease, often stop occurring after childhood.

After a patient's first stroke, recurrence is common, with the medial interval to first recurrence of 6.4 years in hemizygotes. Recurrence of cerebrovascular events is also common, and lesion load (measured radiologically) increases with advancing age.

Learn more about the pathophysiology of Fabry disease.

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