Fabry Disease in Men and Women

As described in the Genetics section, Fabry disease can affect anyone who inherits the faulty gene — both males and females. Virtually all males with the Fabry gene develop the disease and are likely to express some or many of the classic Fabry symptoms. In women with the Fabry gene, however, symptoms can range from none (in asymptomatic carriers) to very serious manifestations similar to those seen in males. That’s because the level of symptom severity often depends on the amount of alpha-GAL enzyme produced in the body. Females with the faulty gene can have anywhere from near-normal levels of alpha-GAL to no active enzyme. Males, on the other hand, usually have little or no active alpha-GAL and are more likely to experience more severe symptoms than females.