[Fabry disease: proposed guidelines from a French expert group for its diagnosis, treatment and follow-up].

Olivier Lidove, Soumeya Bekri, Cyril Goizet, Aurélie Khau Van Kien, Sélim Aractingi, Bertrand Knebelmann, Gabriel Choukroun, Michel Tsimaratos, Isabelle Redonnet-Vernhet, Didier Lacombe, Roland Jaussaud
La Presse Médicale. 2007-07-01; 36(7-8): 1084-1097
DOI: 10.1016/j.lpm.2007.01.006

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1. Presse Med. 2007 Jul-Aug;36(7-8):1084-97. Epub 2007 Feb 2.

[Fabry disease: proposed guidelines from a French expert group for its diagnosis,
treatment and follow-up].

[Article in French]

Lidove O(1), Bekri S, Goizet C, Khau Van Kien A, Aractingi S, Knebelmann B,
Choukroun G, Tsimaratos M, Redonnet-Vernhet I, Lacombe D, Jaussaud R.

Author information:
(1)Service de médecine interne, Hôpital Bichat, Paris.

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.

DOI: 10.1016/j.lpm.2007.01.006
PMID: 17276649 [Indexed for MEDLINE]

Auteurs Bordeaux Neurocampus