Fabry disease (Anderson–Fabry disease or angiokeratoma corporis diffusum) is an X-linked lysosomal storage disease resulting from deficiency of α-galactosidase A (Brady et al., 1967; Kint, 1970). The first descriptions of the disease date to 1898, when William Anderson and Johannes Fabry independently described some of its clinical features (Fabry, 2001). Fabry disease is completely penetrant in males, who often develop painful paresthesias during childhood and are later at risk for renal failure, heart disease, and stroke. Symptoms in heterozygous females are variable and generally less severe (MacDermot et al., 2001a).

Clinical features

The characteristic skin abnormality of Fabry disease is angiokeratoma corporis diffusum, seen initially as superficial dilated capillaries which keratinize and over time develop a raised dark red or purple appearance (Fig. 34.1). These lesions are widespread, but occur most often in clusters around the umbilicus or on the buttocks, scrotum, hips or thighs (Bethune et al., 1961). The size and number of the cutaneous lesions vary, but they tend to become more numerous with age; a few adults never develop skin lesions (Wallace, 1958; MacDermot et al., 2001b).

Whorled corneal deposits (Fig. 34.2) are characteristic of Fabry disease and occur even in female carriers (Weingeist & Blodi, 1971; Hirano et al., 2001). Some patients also develop anterior capsular deposits and abnormalities of the conjunctival vessels (Sher et al., 1979). Although Fabry disease does not usually cause significant visual loss, these abnormalities may help identify the diagnosis (Sher et al., 1979).