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[Thrombophilia caused by a type II protein-C defect]
G Vogel1, M Machulik, G Lauten
1Abteilung für Hämostaseologie, Medizinischen Akademie Erfurt.
Insights
This study reports the first cases of protein C deficiency type II in the GDR. This condition involves normal protein C antigen levels but reduced activity, found in 6 of 29 thrombosis patients.
Area of Science:
- Biochemistry
- Hematology
- Genetics
Background:
- Protein C deficiency is a rare inherited thrombophilia.
- Type II protein C deficiency is characterized by reduced protein activity with normal antigen levels.
- Previous reports on this deficiency in the GDR were absent.
Purpose of the Study:
- To report the initial detection of Type II protein C deficiency in the German Democratic Republic (GDR).
- To identify the prevalence of this deficiency in patients presenting with thrombotic events.
- To investigate familial inheritance patterns and discuss clinical implications.
Main Methods:
- Screening of 29 patients with spontaneous or relapsing thromboses for protein C deficiency.
- Assay of protein C activity and antigen levels.
- Family investigations to identify asymptomatic carriers.
Main Results:
- Protein C deficiency type II was identified in 6 out of 29 patients.
- Affected individuals exhibited normal protein C antigen levels.
- Reduced protein C activity was a consistent finding in these patients.
- Asymptomatic carriers were identified in two unrelated families through pedigree analysis.
Conclusions:
- Type II protein C deficiency represents a significant, albeit previously unreported, cause of thrombophilia in the GDR.
- Early diagnosis and genetic counseling are crucial for managing affected families.
- Further research into the clinical consequences and management strategies is warranted.
Abstract:
It is reported on the first cases of protein C deficiency of type II detected in the GDR. This type of the defect is characterized by a normal antigen content in definitely decreased activity of protein C. Among 29 patients who became evident due to spontaneous and/or relapsing thromboses, the defect was found in 6 cases. In family investigations further asymptomatic carriers of characteristics were found in two families not related to each other. The clinical consequences are discussed.