Symptom Management

Symptom management may help to reduce the burden of Fabry disease. The coordination of care involves a multidisciplinary approach which may include a geneticist, genetic counselor, nephrologist, neurologist, pediatrician, dermatologist, cardiologist, ophthalmologist, and gastroenterologist.1

Pain

The pain common to Fabry disease may be unresponsive to conventional analgesics. If possible, patients should avoid stimuli that precipitate pain:2

  • Stress
  • Heat or sun exposure
  • Temperature changes
  • Physical exertion

Drinking large amounts of fluid, especially during hot weather and before and during exercise, has been reported to help prevent Fabry crises.2

For patients with frequent and severe painful attacks, prophylactic therapy may be helpful.

Angiokeratomas

Angiokeratomas can be removed for cosmetic reasons by various dermatalogical procedures.

Cardiac complications

The pathology that underlies cardiac complications in Fabry disease differs from that of most heart diseases in the general population. However, standard treatment modalities used in cardiac patients, such as valve replacement, pacemaker insertion, angioplasty, and coronary artery bypass grafting, are employed as warranted by presenting signs and symptoms.3

Cerebrovascular complications

Cerebrovascular complications associated with Fabry disease, like cardiovascular complications, are often managed with standard treatment modalities.

Renal complications

Renal complications are one of the more common and concerning aspects of Fabry disease. The degree of renal involvement generally correlates with the progressions of GL-3 accumulation, may lead to renal insufficiency, and failure may ensue.

When renal function becomes severely compromised, dialysis and/or renal transplantation may be warranted.  Renal transplantation has been shown to improve uremia, prolong life, and may even improve clinical symptoms in Fabry disease.4-10 However, renal transplantation is not a cure, as it does not address the underlying pathology of the disease: progressive GL-3 accumulation. Cardiac disease progression has been noted in renal transplant patients, 11-13 and renal allografts have demonstrated GL-3 deposition after transplantation.7, 10, 14, 15

Gastrointestinal symptoms

A low-fat diet can temporarily ameliorate some of the gastrointestinal symptoms associated with Fabry disease.16

References:

1. Peters FPJ, Sommer A, Vermeulen A, Cheriex EC, Kho TL. Fabry's disease: a multidisciplinary disorder. Postgrad Med J. 1997;73:710-712.

2. Kolodny EH. Fabry disease. In: Bogousslavsky J, Caplan L, eds. Stroke Syndromes. New York, NY: Cambridge University Press 1995;453-459.

3. Linhart A, Lubanda J, Palecek T, Bultas J, Karetova D, Ledvinova J, et al. Cardiac manifestations in Fabry disease. J Inherit Metab Dis 2001;24 Suppl 2:75-83.

4. Najarian JS, Desnick RJ, Simmons RL, Krivit W. Correction of enzymatic deficiencies by renal transplantation: Fabry's disease. Bull Soc Int Chir 1975;34:1-10.

5. Philippart M, Franklin SS, Gordon A. Reversal of an inborn sphingolipidosis (Fabry's disease) by kidney transplantation. Ann Intern Med 1972;77:195-200.

6. Spence MW, MacKinnon KE, Burgess JK, d'Entremont DM, Belitsky P, Lannon SG, et al. Failure to correct the metabolic defect by renal allotransplantation in Fabry's disease. Ann Intern Med 1976;84:13-6.

7. Friedlaender MM, Kopolovic J, Rubinger D, Silver J, Drukker A, Ben-Gershon Z, et al. Renal biopsy in Fabry's disease eight years after successful renal transplantation. Clin Nephrol 1987;27:206-11.

8. Erten Y, Ozdemir FN, Demirhan B, Karakayali H, Demirag A, Akkoc H. A case of Fabry's disease with normal kidney function at 10 years after successful renal transplantation. Transplant Proc 1998;30:842-3.

9. Sheth KJ, Roth DA, Adams MB. Early renal failure in Fabry's disease. Am J Kidney Dis 1983;2:651-4.

10. Mosnier JF, Degott C, Bedrossian J, Molas G, Degos F, Pruna A, et al. Recurrence of Fabry's disease in a renal allograft eleven years after successful renal transplantation. Transplantation 1991;51:759-62.

11. Tsakiris D. Rare Diseases in renal replacement therapy in the ERA-EDTA Registry. Nephrology Dialysis Transplantation 1996;11:4 - 20.

12. Kramer W, Thormann J, Mueller K, Frenzel H. Progressive cardiac involvement by Fabry's disease despite successful renal allotransplantation. Int J Cardiol 1985;7:72-5.

13. Maizel SE, Simmons RL, Kjellstrand C, Fryd DS. Ten-year experience in renal transplantation for Fabry's disease. Transplant Proc 1981;13:57-9.

14. Gantenbein H, Bruder E, Burger HR, Briner J, Binswanger U. Recurrence of Fabry's disease in a renal allograft 14 years after transplantation. Nephrol Dial Transplant 1995;10:287-9.

15. Faraggiana T, Churg J, Grishman E, Strauss L, Prado A, Bishop DF, et al. Light- and electron-microscopic histochemistry of Fabry's disease. Am J Pathol 1981;103:247-62.

16. Mehta A. New developments in the management of Anderson-Fabry disease. QJM 2002;95(10):647-53.