[Vascular complications of homocystinuria: a retrospective multicenter study].
OBJECTIVE
Arterial or venous thromboses are frequent in patients with homocystinuria. Because severe homocystinuria is rare, prevalence of thrombosis, especially in France, is still unknown.


METHODS
Review of the clinical outcome of 37 patients with homocystinuria due to cystathionine-cystathionine beta-synthase deficiency (34) and 5,10-methylenetetrahydrofolate reductase (three) lead us to describe vascular complications occurring in 12 (32%) of them.


RESULTS
Venous thromboembolism is the earlier and the most frequent one and is mainly found in untreated late-diagnosed cases. Under specific treatment of homocystinuria, thromboses are rare and always a complication of surgery associated with high thromboembolic risk. Association with factor V Leiden increased the risk of venous thrombosis.
Simorre
B
B
Service de médecine interne et maladies vasculaires, hôpital Saint-Eloi, 2, avenue Bertin-Sans, 34295 Montpellier, France.
Quéré
I
I
Berrut
G
G
Chassé
J F
JF
Bellet
H
H
Kamoun
P
P
le Hello
C
C
Saudubray
J M
JM
Janbon
C
C
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D003627:Data Interpretation, Statistical; D005165:Factor V / Q000235:genetics; D005260:Female; D006712:Homocystinuria / Q000150:complications* / Q000235:genetics / Q000628:therapy; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011110:Polymorphism, Genetic; D012189:Retrospective Studies; D012737:Sex Factors; D013923:Thromboembolism / Q000209:etiology; D013927:Thrombosis / Q000209:etiology*; D020246:Venous Thrombosis / Q000209:etiology
C095381:factor V Leiden; D005165:Factor V
Les manifestations vasculaires de l'homocystinurie: étude rétrospective multicentrique.