Genzyme Corporate
Research
Search
Genzyme Websites
|
Genzyme Corporate
Research
Search
Genzyme Websites
|
|
|
||
|
   |
|
|
  |
|
|
|
|
|
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
Symptom Management Treatment of Fabry disease includes various approaches to managing symptoms and ameliorating life threatening complications. Because the disease affects multiple organ systems, a multidisciplinary approach (geneticist, genetic counselor, gastroenterologist, nephrologist, neurologist, dermatologist, ophthalmologist, cardiologist, pediatrician) to management may be necessary.[1] The subsections below outline common practices in addressing the symptoms of Fabry disease. Pain The pain common to Fabry disease may be unresponsive to conventional analgesics, with the possible exception of centrally acting narcotic analgesics like morphine.[2] If possible, patients should avoid stimuli that precipitate pain:[2]
Drinking large amounts of fluid, especially during hot weather and before and during exercise may also help prevent Fabry crises.[3] For patients with frequent and severe painful attacks, prophylactic therapy with anticonvulsant drugs (diphenylhydantoin and carbamazepine) may be helpful. Phenoxybenzamine has also been shown to provide pain relief.[2] Angiokeratomas Angiokeratomas can be removed for cosmetic reasons by argon laser treatment, usually with little scarring.[4] 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 such as valve replacement, pacemaker insertion, angioplasty, and coronary artery bypass grafting are employed as warranted by presenting signs and symptoms.[2,5] Cerebrovascular complications Cerebrovascular complications associated with Fabry disease, like cardiovascular complications, are managed with standard treatment modalities. Oral anticoagulant or antiplatelet agents may be administered to prevent stroke.[2] 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 and may lead to renal insufficiency and failure may ensue. Mild reductions in renal function may be managed in part by a low-protein diet. When renal function becomes severely compromised, dialysis and/or renal transplantation may be warranted. Renal transplantation has been shown to improve uremia, prolongs life, and may even improve clinical symptoms in Fabry disease. [6-12] 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,[13-15] and renal allografts have demonstrated GL-3 deposition after transplantation. [9,12,16,17] Gastrointestinal symptoms A low fat diet and/or pancrelipase or metoclopramide taken before meals can temporarily ameliorate gastrointestinal symptoms associated with Fabry disease.[2] 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. Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase A deficiency: Fabry disease. In: The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill, 2001;3733-3774. 3. Kolodny EH. Fabry disease. In: Bogousslavsky J, Caplan L, eds. Stroke Syndromes. New York, NY: Cambridge University Press 1995;453-459. 4. Hobbs ER, Ratz JL. Argon laser treatment of angiokeratomas. J Dermatol Surg Oncol. 1987;13:1319-1320. 5. 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. 6. 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. 7. Philippart M, Franklin SS, Gordon A. Reversal of an inborn sphingolipidosis (Fabry's disease) by kidney transplantation. Ann Intern Med 1972;77:195-200. 8. 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. 9. 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. 10. 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. 11. Sheth KJ, Roth DA, Adams MB. Early renal failure in Fabry's disease. Am J Kidney Dis 1983;2:651-4. 12. 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. 13. Tsakiris D. Rare Diseases in renal replacement therapy in the ERA-EDTA Registry. Nephrology Dialysis Transplantation 1996;11:4 - 20. 14. 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. 15. Maizel SE, Simmons RL, Kjellstrand C, Fryd DS. Ten-year experience in renal transplantation for Fabry's disease. Transplant Proc 1981;13:57-9. 16. 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. 17. 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. |
|
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
Terms and Conditions of Use | Privacy Policy | © 2003-2008 Genzyme Corporation. All rights reserved.| © Fabr/US/P219/08/05 |
|
