Antithrombin III Toyama: a hereditary abnormal antithrombin III of a patient with recurrent thrombophlebitis.

Abstract

A familial abnormal antithrombin III (AT-III) is reported. The characteristic of the abnormality in this family is low heparin cofactor activity with normal progressive antithrombin activity and normal or rather increased level of AT-III antigen. The patient is a 23-year-old female who had suffered from recurrent thrombophlebitis involving her lower extremities. Her plasma AT-III antigen concentration was 54 mg/dl and progressive antithrombin and factor Xa inhibitory activities were of normal level. However, the heparin cofactor activity of her plasma was as low as 26% of normal control. On crossed immunoelectrophoresis (CIE) containing heparin in the first dimension agarose, patient's AT-III showed no increase in electrophoretic mobility compared to that in the absence of heparin, suggesting that the patient's AT-III has no affinity for heparin. From CIE pattern in the presence of heparin, the patient was found to be a homozygote, and parents and one of her younger sisters were heterozygotes. Thus, the mode of inheritance is proposed to be autosomal dominant.

• Authors: N Sakuragawa, K Takahashi, S Kondo, T Koide
• Journal: Thrombosis research (Thromb Res) Vol. 31 Issue 2 Pg. 305-17 (Jul 15 1983) ISSN: 0049-3848 [Print] United States
• PMID: 6636045 (Publication Type: Case Reports, Journal Article)

Chemical References

• antithrombin III Toyama
• Antithrombin III

Topics

• Adult
• Antithrombin III (genetics)
• Antithrombin III Deficiency
• Blood Coagulation Tests
• Female
• Genes, Dominant
• Genetic Variation
• Humans
• Immunoelectrophoresis, Two-Dimensional
• Pedigree
• Recurrence
• Thrombophlebitis (blood)