Stuart Prower Deficiency, also known as Congenital Afibrinogenemia, is a rare inherited bleeding disorder characterized by the complete absence or severe deficiency of fibrinogen, a protein crucial for blood clotting. Individuals with this condition have significantly reduced amounts or lack of functional fibrinogen, leading to abnormal bleeding tendencies.
Fibrinogen plays a vital role in the clotting cascade by converting soluble fibrinogen molecules into insoluble fibrin, forming the structural matrix of blood clots. In cases of Stuart Prower Deficiency, the defective fibrinogen synthesis is caused by mutations in the FGG, FGA, or FGB genes, affecting the production, structure, or stability of fibrinogen.
Symptoms of Stuart Prower Deficiency typically arise in infancy or childhood and vary in severity. They can include prolonged or excessive bleeding after injuries or surgeries, frequent uncontrollable nosebleeds, easy bruising, heavy or prolonged menstrual periods, and, in rare cases, life-threatening bleeding into vital organs.
Diagnosis of Stuart Prower Deficiency involves a comprehensive evaluation of the patient's personal and family medical history, clinical examination, and specific laboratory tests, such as fibrinogen assays and genetic testing.
Management of this condition often involves replacement therapy with fibrinogen concentrates, fresh frozen plasma, or cryoprecipitate to minimize bleeding risks. Other treatment strategies may include antifibrinolytic medications, such as tranexamic acid, and routine surveillance for potential complications like iron deficiency anemia.
Since Stuart Prower Deficiency is an autosomal recessive disorder, genetic counseling is essential for affected individuals and their families to understand the inheritance pattern and potential risks for future generations.
