Primary fibrinogenolysis

Primary fibrinogenolysis is a rare hematological disorder characterized by the excessive breakdown of fibrinogen, a key protein involved in blood clotting. This condition leads to a reduction in the levels of circulating fibrinogen, impairing the body's ability to form clots and stop bleeding. Unlike secondary fibrinogenolysis, which occurs as a consequence of another disorder, primary fibrinogenolysis arises independently and is not associated with an underlying condition.

Causes

The exact cause of primary fibrinogenolysis is not well understood. It is thought to be related to the unregulated activation of the plasminogen system. Plasminogen is a precursor to plasmin, an enzyme responsible for breaking down fibrinogen and other clotting factors. In primary fibrinogenolysis, an imbalance in the plasminogen system leads to excessive plasmin activity, resulting in the premature breakdown of fibrinogen.

Symptoms

Symptoms of primary fibrinogenolysis may include:

• Bleeding or bruising easily
• Prolonged bleeding from cuts or injuries
• Heavy menstrual bleeding in women
• Bleeding in the gastrointestinal tract
• Hematuria (blood in urine)

Diagnosis

Diagnosis of primary fibrinogenolysis involves a combination of clinical evaluation and laboratory tests. Key diagnostic tests include:

• Complete blood count (CBC) to assess overall blood health
• Coagulation tests, including prothrombin time (PT) and activated partial thromboplastin time (aPTT), to evaluate clotting ability
• Fibrinogen level measurement to determine the amount of fibrinogen in the blood
• Fibrin degradation products (FDPs) and D-dimer tests to assess the breakdown products of fibrinogen and fibrin

Treatment

Treatment of primary fibrinogenolysis focuses on managing symptoms and preventing excessive bleeding. Options may include:

• Antifibrinolytic agents, such as tranexamic acid, to inhibit the breakdown of fibrinogen
• Fibrinogen replacement therapy, using fibrinogen concentrates or cryoprecipitate, to restore fibrinogen levels
• Addressing any underlying conditions or factors that may contribute to the disorder

Prognosis

The prognosis for individuals with primary fibrinogenolysis varies depending on the severity of the condition and the effectiveness of treatment. With appropriate management, many patients can lead normal lives, although they may require ongoing treatment to prevent bleeding complications.

See also

• Coagulopathy
• Disseminated intravascular coagulation
• Fibrinolysis