Antithrombin III deficiency: a report of 14 cases belonging to three different kindreds.
A hereditary deficiency of AT III is described in 14 subjects belonging to three different kindreds. There is no consanguineity in any of the families investigated. The pattern of inheritance of defect appears autosomal dominant. Seven of the affected subjects presented thrombotic episodes (deep vein thrombosis, splanchnic thrombosis, pulmonary embolization). The main laboratory features were: normal routine clotting tests, decreased AT III activity in all assay systems and concomitantly reduced AT III antigen levels. Crossed immunoelectrophoresis showed only reduced peaks with respect to normal in both plasma and serum. No correlation was found between age of patients and AT III levels.
Girolami
A
A
Cappellato
M G
MG
Vicarioto
M
M
Marafiotti
F
F
Traverso
R
R
Vergolani
A
A
Boeri
G
G
D000328:Adult; D020152:Antithrombin III Deficiency; D001778:Blood Coagulation Disorders / Q000235:genetics*; D003378:Counterimmunoelectrophoresis; D005260:Female; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011655:Pulmonary Embolism / Q000209:etiology; D013924:Thrombophlebitis / Q000209:etiology