Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry.

Purpose: To evaluate life expectancy and cause of death among patients with Fabry disease, an X-linked lysosomal storage disorder.

Methods: Data from 2848 patients in the Fabry Registry were summarized using descriptive statistics. Life expectancy at birth was compared with that of the United States general population.

Results: As of August 2008, 75 of 1422 males and 12 of 1426 females in the Fabry Registry were reported to have died. The 87 deceased patients were diagnosed at a much older age than other patients in the Fabry Registry: median age at diagnosis was 40 vs. 24 years in males and 55 vs. 33 years in females. The life expectancy of males with Fabry disease was 58.2 years, compared with 74.7 years in the general population of the United States. The life expectancy of females with Fabry disease was 75.4 years, compared with 80.0 years in the United States general population. The most common cause of death among both genders was cardiovascular disease. Most (57%) patients who died of cardiovascular disease had previously received renal replacement therapy.

Conclusions: Most deceased Fabry Registry patients exhibited serious cardiac and renal dysfunction. Late diagnosis may have contributed to the early deaths of these patients.