Dialysis – Transplantation
Kidney International (2002) 61, 249–255; doi:10.1046/j.1523-1755.2002.00097.x
Patients with Fabry disease on dialysis in the United States
Ravi Thadhani, Myles Wolf, Michael L West, Marcello Tonelli, Robin Ruthazer, Gregory M Pastores and Gregorio T Obrador
Renal Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA; Division of Nephrology, Department of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada; Division of Clinical Care Research, New England Medical Center, Boston, Massachusetts, Neurogenetics Program, Department of Neurology and Pediatrics, New York University School of Medicine, New York, New York, and Division of Nephrology, New England Medical Center, Boston, Massachusetts, USA; and Panamaricana University School of Medicine, Mexico City, Mexico
Correspondence: Ravi Thadhani, M.D. M.P.H., Founders 036, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts 02114, USA. E-mail: thadhani.r@mgh.harvard.edu
Received 18 April 2001; Revised 6 August 2001; Accepted 8 August 2001.
Abstract
Patients with Fabry disease on dialysis in the United States.
Background
Fabry disease results from an X-linked deficiency of lysosomal alpha-galactosidase A and is a rare cause of end-stage renal disease. Little is known about the characteristics of patients with Fabry disease that initiate dialysis in the United States, although data from Europe suggests these individuals have a poor survival.
Methods
Using the United States Renal Disease System database, we first studied in detail 42 Fabry patients who initiated dialysis between April 1995 (following the introduction of the new detailed HCFA 2728 form) and July 1998. To examine crude survival in a larger cohort, 95 Fabry patients were studied who initiated dialysis between 1985 and 1993, similar to the European Registry. Diabetic and non-diabetic controls matched by age, gender, race, year of dialysis initiation, and initial dialysis modality were examined for comparison.
Results
During the years 1995 to 1998, the mean age of Fabry patients that initiated dialysis was 42 years, 83% were Caucasian, and 10% were African American. Despite the X-linked inheritance of Fabry disease, 12% of Fabry patients on dialysis were female. At initiation of dialysis mean serum albumin and creatinine were significantly higher and mean body mass index was significantly lower among Fabry patients, but mean glomerular filtration rate was similar to controls. Fabry patients tended to have a lower three-year survival compared to non-diabetic controls, but the results were not significantly different. In a larger cohort of Fabry patients who initiated dialysis between 1985 and 1993, the three-year survival of Fabry patients was significantly lower than non-diabetic controls: 63% (95% CI, 50 to 75%) versus 74% (95% CI, 67 to 80%; P = 0.03).
Conclusion
End-stage renal disease is associated with significant morbidity and mortality among patients with Fabry disease. Recent evidence that progression of Fabry disease may be attenuated by enzyme replacement therapy necessitates increased awareness of Fabry disease and its comorbidities.
Keywords:
end-stage renal disease, X-linked inheritance, enzyme replacement therapy, lysosomal 
-galactosidase A
