Raynaud’s phenomenon associated with Fabry disease

Excerpt

A 47-year-old man with Fabry disease (p.Asp266Val mutation in the GLA gene) presented with discoloration in the fingertips of both hands (Fig. 1). These symptoms had developed over a period of 7 years. Raynaud’s phenomenon was seen after his hands were exposed to cold. The patient’s history and physical examination revealed no signs or symptoms suggestive of systemic lupus erythematosus or scleroderma and the antinuclear antibody titer was not elevated. Raynaud’s phenomenon is characterized by exaggerated vasoconstrictive color changes (pallor and cyanosis) in the fingers, usually due to exposure to cold. The phenomenon is considered primary if there is no evidence of an underlying medical illness. Secondary Raynaud’s phenomenon occurs in association with another condition, such as systemic lupus erythematosus or scleroderma but has only been reported once in patients with Fabry disease (Wasik et al 2009). Following identification of this case, the presence of Raynaud’s phenomenon was investigated in 207 patients with a confirmed diagnosis of classic Fabry disease followed at our site and 27 additional cases were found, suggesting that Raynaud’s phenomenon may be present in up to 13 % of patients with Fabry disease. Pathogenic mutation of the GLA gene was confirmed in all 28 cases while angiokeratoma and/or evidence of vascular disease were found in some of them (Table 1). Raynaud’s phenomenon further expands the phenotype of the vasculopathy observed in classic Fabry disease.

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