Lowered antithrombin III activity and other clotting changes in homocystinuria: effects of a pyridoxine-folate regimen.
Few studies have dealt with blood-clotting changes in patients affected by homocystinuria. The aim of this contribution is to briefly review studies published so far on the topic and report the results of our investigation performed in 3 patients. At baseline we found reduced antithrombin III and factor VII levels in all the patients, in line with the results of other authors, and other slight and less constant changes such as lowered factor X activity and protein C antigen, and increased beta-thromboglobulin levels. During pyridoxine and folate treatment, antithrombin III activity rapidly returned to normal; factor VII increased and beta-thromboglobulin decreased. These blood-clotting abnormalities may play a role in the thrombotic tendency associated with homocystinuria. Their nature is still uncertain, but the improvement observed during active metabolic treatment suggests that the defect in amino acid transsulfuration of homocystinuria may directly affect synthesis or activity of some clotting factors.
Palareti
G
G
Department of Angiology and Blood Coagulation, University Hospital S. Orsola, Bologna, Italy.
Coccheri
S
S
D000293:Adolescent; D000990:Antithrombin III / Q000378:metabolism*; D001778:Blood Coagulation Disorders / Q000097:blood* / Q000188:drug therapy; D002675:Child, Preschool; D005260:Female; D005492:Folic Acid / Q000627:therapeutic use*; D006712:Homocystinuria / Q000097:blood* / Q000188:drug therapy; D006801:Humans; D008297:Male; D011736:Pyridoxine / Q000627:therapeutic use*
D000990:Antithrombin III; D005492:Folic Acid; D011736:Pyridoxine