In male suspected patients:
Analysis of the enzyme alpha-Galactosidase A in the plasma
Analysis of the leukocyte enzyme alpha-Galactosidase A; more sensitive than the analysis of plasma.
Analysis of mutation in the alpha Gal gene, in men, is rarely needed. This test is restricted to atypical cases where the enzymatic assessment is doubtful.
In female suspected patients:
Analysis of mutation in the alpha Gal; in women, the enzyme assay (analysis of Alpha-Galactosidase A) may be normal, so the molecular test is considered mandatory to confirm the diagnosis, except in cases where the woman is heterozygous, and the father is a known carrier of FD.
Branton MH, Schiffmann R, Sabnis SG et al. Natural history of Fabry renal disease: influence of alpha-galactosidase. A activity and genetic mutations on clinical course. Medicine (Baltimore) 2002; 81:122.
MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001; 38:750
Schiffmann R, Murray GJ, Treco D et al. Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci U S A 2000; 97:365.
Eng CM, Banikazemi M, Gordon RE et al. A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 2001; 68:711.
Schiffmann R, Kopp JB, Austin HA 3rd et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001; 285:2743.
Eng CM, Guffon N, Wilcox WR et al. Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease. N Engl J Med 2001; 345:9.
Antiproteinuric therapy and fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta.
AUTahir H, Jackson LL, Warnock DGSOJ Am Soc Nephrol. 2007;18(9):2609.
AD Division of Nephrology, Department of Medicine, University of Alabama at Birmingham, AL 35294-0006, USA.
Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.
AUDesnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WRSOAnn Intern Med. 2003;138(4):338.
Department of Human Genetics, Box 1498, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, USA. firstname.lastname@example.org
Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
AUBennett RL, Hart KA, O'Rourke E, Barranger JA, Johnson J, MacDermot KD, Pastores GM, Steiner RD, Thadhani RSOJ Genet Couns. 2002;11(2):121.
Lidove O, Joly D, Barbey F et al, “Clinical Results of Enzyme Replacement Therapy in Fabry Disease: A Comprehensive Review of Literature”, Int J Clin Pract, 2007, 61(2):293-302. (PubMed 17263716)
Ries M, Clarke J T, Whybra C et al, “Enzyme-Replacement Therapy With Agalsidase Alfa in Children With Fabry Disease,” Pediatrics, 2006, 118(3):924-32. [PubMed 16950982]
Signs / Symptoms (29)
|Acute myocardial infarction|
|Left ventricular hypertrophy - LVH|
|Decrease or absence of sweating|
|Burning sensation in hands|
|Numbness or tingling in hands and feet|
|Upward or downward slanting palpebral fissures|
|Burning sensation in feet|
|Elevation of creatinine|
|Intolerance to exercise|
|Intolerance to heat and cold|
|Intolerance to temperature changes|
|Pain crises that spread through the body|
|Recurrent fever without apparent cause|