Description
The patient was a 50-year-old man from a consanguineous marriage. He was diagnosed with hypofibrinogenemia when he was 40 years old, following investigations of an unusual bleeding after dental care. He developed an acute myocardial infarction two years later, managed without revascularization but introduction of atenolol, aspirin, atorvastatin, and captopril. The clinical course was finally uneventful. The patient had neither cardiovascular risk factors nor family history of bleeding disorder. All coagulation-based tests were severely affected, including an infinitely prolonged activated partial thromboplastin time, a severely reduced prothrombin activity and an infinitely prolonged thrombin time. Further investigations showed that all plasma-clotting factors were in the normal range except fibrinogen, which was extremely reduced (0.31g/L) when measured by the Clauss method and (0.36g/L) when assayed by the turbidimetric latex immunoassay, suggesting severe hypofibrinogenemia
# | Sample | Method | Observation |
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Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
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1 | germline | yes | not provided | not provided | not provided | | 1 | not provided | not provided | not provided |