How is Afibrinogenemia diagnosed?

Afibrinogenemia is a rare inherited bleeding disorder characterized by the absence or severe deficiency of fibrinogen, a protein essential for blood clotting. Diagnosing afibrinogenemia involves a comprehensive evaluation of the patient's medical history, physical examination, and laboratory tests.

Medical history: The doctor will inquire about the patient's personal and family medical history, paying particular attention to any bleeding tendencies or abnormal clotting episodes. This information helps identify potential genetic factors and provides a basis for further investigation.

Physical examination: A thorough physical examination is conducted to assess any signs of bleeding or abnormal clotting. The doctor may look for bruising, petechiae (small red or purple spots on the skin), or other indications of bleeding disorders.

Laboratory tests: Several laboratory tests are crucial in diagnosing afibrinogenemia:

• Complete blood count (CBC): This test measures the number of red and white blood cells, as well as platelets, in the blood. It helps identify any abnormalities or deficiencies.


• Coagulation studies: These tests evaluate the blood's ability to clot. They include prothrombin time (PT), activated partial thromboplastin time (aPTT), and thrombin time (TT). In afibrinogenemia, these tests typically show prolonged clotting times.


• Fibrinogen level: Measuring the amount of fibrinogen in the blood is crucial for diagnosing afibrinogenemia. A significantly low or undetectable fibrinogen level confirms the diagnosis.


• Fibrinogen functional assays: These tests assess the functionality of fibrinogen in the blood. They include clotting assays, such as the Clauss method or thrombin clotting time (TCT), which measure the ability of fibrinogen to form clots.


• Genetic testing: Genetic analysis is often performed to identify specific mutations or abnormalities in the genes responsible for fibrinogen production. This test helps confirm the diagnosis and determine the inheritance pattern of afibrinogenemia.

It is important to consult with a hematologist or a specialist in bleeding disorders for an accurate diagnosis of afibrinogenemia. Proper diagnosis enables appropriate management and treatment strategies to prevent excessive bleeding and complications associated with the disorder.