[Fabry disease: proposed guidelines from a French expert group for its diagnosis, treatment and follow-up].
Fabry disease is a rare and under-recognized disease associated with an altered X-linked gene controlling hydrolase alpha-galactosidase A activity. This mutation impairs the glycosphingolipid metabolism. A multisystemic disease with a highly variable clinical presentation, its principal symptom is acroparesthesia. Manifestations of Fabry disease occur mostly in hemizygous males but also in heterozygous females. Before enzyme replacement therapy was available, life expectancy was about 50 years in men and 70 years in women. Early diagnosis is essential to prevent irreversible organ damage. Diagnosis is based on an assay of alpha-galactosidase A activity in male patients and on genetic analysis in female patients. Prognosis is related principally to three complications: involvement of the central nervous system, kidneys, and heart. Management of Fabry patients should in all cases combine symptomatic therapy and regular clinical, laboratory and morphological follow-up by specialists in genetic metabolic diseases. Enzyme replacement therapy should be considered in all adult male patients and should probably begin early. In adult heterozygous female patients and in children, this treatment should be considered only for patients with severe pain, organ damage, or central nervous system, kidney, or heart involvement. After a proband is identified, a genealogical tree should be used to identify other affected members of the family.
Lidove
Olivier
O
Service de médecine interne, Hôpital Bichat, Paris. olivier.lidove@bch.aphp.fr
Bekri
Soumeya
S
Goizet
Cyril
C
Khau Van Kien
Aurélie
A
Aractingi
Sélim
S
Knebelmann
Bertrand
B
Choukroun
Gabriel
G
Tsimaratos
Michel
M
Redonnet-Vernhet
Isabelle
I
Lacombe
Didier
D
Jaussaud
Roland
R
D000359:Aftercare / Q000379:methods* / Q000592:standards; D001706:Biopsy; D003937:Diagnosis, Differential; D042241:Early Diagnosis; D000795:Fabry Disease / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000628:therapy*; D005260:Female; D005602:France / Q000453:epidemiology; D005817:Genetic Counseling; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007527:Isoenzymes / Q000627:therapeutic use; D008017:Life Expectancy; D008297:Male; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D017410:Practice Guidelines as Topic; D015995:Prevalence; D011379:Prognosis; D011788:Quality of Life; D035583:Rare Diseases; D012720:Severity of Illness Index; D017678:Sex Distribution; D000519:alpha-Galactosidase / Q000627:therapeutic use
D007527:Isoenzymes; D000519:alpha-Galactosidase; C459420:agalsidase beta