Thrombosis is the major cause of morbidity and mortality in individuals with untreated classical homocystinuria (HCU) due to cystathionine bêta-synthase deficiency and characterised by severe hyperhomocysteinaemia.
In addition, mild and moderate hyperhomocysteinaemia and Factor V Leiden (FVL ; Arg506Gln) have recently been identified as thrombotic risk factors.
FVL. which renders resistance to activated Protein C. is the most common inherited genetic risk factor for thrombosis with a high allelic frequency amongst Caucasians.
As thrombophilia is a multigenic disorder. 26 individuals with HCU (median age 17.6 years, range 3.5-32.8 years) and 36 obligate heterozygotes (median age 51.5 years, range 34-74 years) were screened for FVL.
All the HCU individuals received treatment, except one, within 6 weeks of birth for those who were diagnosed at birth through the national newborn screening programme (n=20) and at the time of diagnosis for those late detected (n=5, mean age of starting treatment 4.9 years, range 1.4-11 years).
All had been free from venous thrombosis, except one HCU individual and one HCU obligate heterozygote.
Neither of the two individuals with venous thrombosis carried FVL.
Two independent individuals with HCU (male 14.8 years ; female 18.2 years were heterozygous for FVL (allelic frequency 3.8%) and three independent HCU obligate heterozygotes (males 40 and 45.8 years : female 45.6 years) were also heterozygous for FVL (allelic frequency 4.16%). (...)
Mots-clés Pascal : Thrombose, Veine, Thromboembolie, Facteur risque, Facteur V Leiden, Homozygotie, Déficit, Cystathionine bêta-synthase, Hydro-lyases, Carbon-oxygen lyases, Lyases, Enzyme, Hétérozygotie, Homocystinurie, Epidémiologie, Irlande, Europe, Résistance, Protein C (activated), Serine endopeptidases, Peptidases, Hydrolases, Homme, Appareil circulatoire pathologie, Vaisseau sanguin pathologie, Veine pathologie, Hémopathie, Coagulopathie, Métabolisme pathologie, Aminoacidopathie, Système nerveux pathologie, Système nerveux central pathologie, Encéphale pathologie, Maladie héréditaire, Enzymopathie
Mots-clés Pascal anglais : Thrombosis, Vein, Thromboembolism, Risk factor, Factor V Leiden, Homozygosity, Deficiency, Cystathionine bêta-synthase, Hydro-lyases, Carbon-oxygen lyases, Lyases, Enzyme, Heterozygosity, Homocystinuria, Epidemiology, Ireland, Europe, Resistance, Protein C (activated), Serine endopeptidases, Peptidases, Hydrolases, Human, Cardiovascular disease, Vascular disease, Venous disease, Hemopathy, Coagulopathy, Metabolic diseases, Aminoacid disorder, Nervous system diseases, Central nervous system disease, Cerebral disorder, Genetic disease, Enzymopathy
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 99-0218038
Code Inist : 002B12B03. Création : 16/11/1999.