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Progressing ischemic stroke in a homozygote with variant antithrombin III
H Ueyama1, Y Hashimoto, M Uchino
1First Department of Internal Medicine, Kumamoto University Medical School, Japan.
Stroke
|June 1, 1989
Summary
Familial variant antithrombin III (AT-III) deficiency can cause ischemic stroke in young adults. Testing both biologic and immunologic AT-III activity is crucial for diagnosis, especially in homozygotes.
Area of Science:
- Neurology
- Hematology
- Genetics
Background:
- Antithrombin III (AT-III) is a key regulator of coagulation.
- Deficiencies in AT-III increase thrombotic risk.
Observation:
- A young woman presented with altered consciousness and hemiparesis.
- Cerebral CT revealed evolving ischemic lesions in multiple brain regions.
- Family screening identified decreased biologic AT-III activity in relatives.
Findings:
- The patient was a homozygote for a familial variant of AT-III.
- Biologic AT-III activity was markedly reduced, while immunologic levels were normal.
- AT-III concentrate transfusion resulted in significant clinical improvement.
Implications:
- Familial AT-III deficiency, particularly homozygous forms, is a potential cause of ischemic stroke in young adults.
- Simultaneous measurement of biologic and immunologic AT-III activity is essential for accurate diagnosis.
- This highlights the importance of genetic screening for thrombophilia in young stroke patients.