A Review of Fabry Disease

Brandon Chan; David N. Adam, MD, FRCPC, DABD

Disclosures

Skin Therapy Letter. 2018;23(2):4-6. 

In This Article

Presentation

The classical variant of FD results from a complete loss of alphagalactosidase A function. Its symptoms include acroparesthesia, sweating abnormalities (hypo/hyperhidrosis), cornea verticillata, and angiokeratoma, as well as cardiovascular, cerebrovascular, and renal disorders such as cardiomyopathy, arrhythmia, stroke, and proteinuria.[1] Non-classical or atypical variants of FD involve residual enzyme activity. Symptoms are generally milder, may be restricted to one organ, and have a later onset of 40 to 60 years of age. The severity of FD also depends on sex, with males being more severely affected than females.[3] FD in heterozygous females has a wider spectrum, likely due to lyonization, where one X chromosome is randomly inactivated in female embryos.[4]

Facial dysmorphism has also been described in FD. The "Fabry facies" is characterized by periorbital fullness, bushy eyebrows, recessed forehead, pronounced nasal angle, bulbous nasal tip, prominent supraorbital ridges, shallow midface, full lips, prominent nasal bridge, broad alar base, coarse features, posteriorly rotated ears, and prognathism. Although there is no single facial feature to characterize FD, it is possible that these facial features may become more prominent with age due to the accumulation of GL3. Non-facial physical features that may indicate FD include broad fingertips, short fingers, and a small anterior-posterior chest diameter.[5]

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