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

Genet Med 2009 Nov;11(11):790-6

Salford Royal NHS Foundation Trust, Manchester, United Kingdom.

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.

Download full-text PDF

Source
http://dx.doi.org/10.1097/GIM.0b013e3181bb05bbDOI Listing
November 2009
3 Reads

Publication Analysis

Top Keywords

fabry registry
20
life expectancy
20
fabry disease
16
united states
12
females fabry
12
patients fabry
12
fabry
9
states general
8
cardiovascular disease
8
general population
8
expectancy death
8
years compared
8
patients
7
years
6
disease
6
life
5
registry
5
582 years
4
disease 582
4
years general
4

References

(Supplied by CrossRef)

Meikle PJ et al.
JAMA 1999

Ries M et al.
Eur J Pediatr 2003

Ries M et al.
Pediatrics 2005

Hopkin RJ et al.
Pediatr Res 2008

MacDermot KD et al.
J Med Genet 2001

MacDermot KD et al.
J Med Genet 2001

Branton MH et al.
Medicine (Baltimore) 2002

Mehta A et al.
Eur J Clin Invest 2004

Wilcox WR et al.
Mol Genet Metab 2008

Sims K et al.
Stroke 2009

Similar Publications