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[4 cases of congenital afibrinogenemia (author's transl)]
Klinische Padiatrie
|September 1, 1975
Insights
Afibrinogenemia, a rare bleeding disorder, can lead to severe complications like cerebral hemorrhage. This study investigated fibrinogen levels and platelet aggregation in a family affected by this condition.
Area of Science:
- Genetics and Hematology
- Molecular Biology
- Clinical Medicine
Context:
- Afibrinogenemia is a rare inherited bleeding disorder characterized by a complete absence of fibrinogen.
- Cerebral hemorrhage is a life-threatening complication associated with severe bleeding disorders.
- Family studies are crucial for understanding the inheritance patterns and clinical manifestations of rare genetic diseases.
Purpose:
- To report on a family with afibrinogenemia, detailing clinical outcomes and laboratory findings.
- To investigate plasma fibrinogen levels across multiple generations of an affected family.
- To assess platelet aggregation in individuals with afibrinogenemia.
Summary:
- The study describes four family members with afibrinogenemia, two of whom died from cerebral hemorrhage at age 10.
- Plasma fibrinogen levels were analyzed in 69 family members, revealing reduced levels in parents and low levels in other relatives.
- Impaired adenosine diphosphate (ADP)-induced platelet aggregation was observed in the affected individuals.
Impact:
- Highlights the severe clinical consequences of afibrinogenemia, including fatal cerebral hemorrhages.
- Provides insights into the genetic transmission and variable expressivity of afibrinogenemia within a family.
- Underscores the importance of early diagnosis and management of bleeding disorders to prevent life-threatening events.
Abstract:
Report on 4 members of one family with afibrinogenemia. 2 of them died of cerebral hemorrhage at the age of 10. The 2 surviving children are 8 and 10 years old. Plasmafibrinogen was determined in 69 members of the family. Only in the parents of 2 patients was plasmafibrinogen found to be slinghtly reduced. But in other members of the family fibrinogen was low. In our cases, too, the ADP induced aggregation of thrombocytes in plasma obtained with citrate was weaker than normal.