Fast Five Quiz: Fabry Disease

Helmi L. Lutsep, MD


April 02, 2021

Figure 1. Light micrograph of angiokeratoma, a benign cutaneous lesion of capillaries. Large dilated blood vessels in the superficial dermis and hyperkeratosis are characteristic of this skin disorder. Large numbers of angiokeratomas may be an indication of metabolic disease, such as Fabry disease, an inherited metabolic disorder.

The classic presentation of Fabry disease is a male with initial manifestations occurring in childhood or adolescence, including intermittent or constant acral paresthesias (ie, chronic burning, neuropathic tingling, or unmitigated acral discomfort), gastrointestinal distress, heat intolerance secondary to hypohidrosis, and generalized angiokeratomas.

Children may experience intermittent Fabry crises characterized by debilitating pain lasting minutes to days in the fingers, the toes, or the entire extremity. Crises can be prompted by any form of physical stress, including disease, extremes in temperature, exercise, or emotional trauma. Critically, however, it can be a challenge to diagnose Fabry disease if it does not manifest in the classic presentation.

Of note, the papules seen in Fabry disease are symmetric and diascopy-negative.

Learn more about atypical Fabry disease.


Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.