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Protein C deficiency and anticardiolipin antibodies in a family with premature stroke
1Department of Internal Medicine, University of Nebraska Medical Center, Omaha 68105.
Insights
This study reports a family with early-onset strokes, anticardiolipin antibodies, and protein C deficiency. These prothrombotic defects appear to be inherited independently, offering insights into stroke risk factors.
Area of Science:
- Neurology
- Hematology
- Genetics
Background:
- Anticardiolipin antibodies and protein C deficiency are known prothrombotic factors associated with stroke.
- Familial co-occurrence of these specific defects has not been previously documented.
Observation:
- A family presented with debilitating, early-onset strokes.
- The propositus and her deceased mother experienced strokes around age 50.
- The propositus exhibited both anticardiolipin antibodies and protein C deficiency.
Findings:
- Anticardiolipin antibodies and protein C deficiency were identified in a family with a history of early-onset strokes.
- Genetic analysis suggested independent inheritance patterns for anticardiolipin antibody production and protein C deficiency.
- Variable expression of these prothrombotic conditions was observed among family members.
Implications:
- The simultaneous presence of these abnormalities in a family highlights the need for comprehensive thrombophilia screening in stroke patients.
- Testing for both anticardiolipin antibodies and inherited anticoagulant deficiencies may be beneficial for unexplained or unusual stroke cases.
- Further research into the differential contributions of these defects can elucidate mechanisms of thrombotic complications, including stroke.
Abstract:
Anticardiolipin antibodies and, rarely, protein C deficiency have been described in patients with stroke. The familial coexistence of these two prothrombotic defects has not been previously reported. We describe a family with debilitating strokes occurring at an early age in whom both anticardiolipin antibodies and protein C deficiency were found. The propositus and her deceased mother both suffered a stroke at age 50 years. The propositus had both anticardiolipin antibodies and protein C deficiency. After a detailed study of the remainder of the family, the tendency to form anticardiolipin antibodies appeared to be inherited independently of the protein C deficiency. The simultaneous occurrence of these abnormalities in one family suggests that it may be useful to test for both anticardiolipin antibodies and inherited anticoagulant protein deficiencies in patients with unusual or unexplained stroke. The differential expression of both protein C deficiency and anticardiolipin antibody production in various members of the described family may allow insight into the relative contributions of these two prothrombotic abnormalities for the development of thrombotic complications, including stroke.