Plasminogen deficiency, congenital

Congenital Plasminogen Deficiency is a rare genetic disorder characterized by the decreased levels or absence of plasminogen, a critical enzyme involved in the process of fibrinolysis. Fibrinolysis is the physiological process that degrades fibrin clots, which are formed to stop bleeding. The deficiency in plasminogen can lead to the accumulation of fibrin, resulting in the formation of pseudomembranes on mucous membranes, particularly in the eyes, which is known as ligneous conjunctivitis. This condition can also affect other parts of the body, including the lungs, kidneys, and skin.

Causes

Congenital Plasminogen Deficiency is caused by mutations in the PLG gene, which provides instructions for making plasminogen. This condition is inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Symptoms

The most common symptom of Congenital Plasminogen Deficiency is ligneous conjunctivitis, which is characterized by the formation of a thick, wood-like (ligneous), fibrin-rich pseudomembrane on the conjunctiva of the eye. Other symptoms may include:

• Dyspnea (difficulty breathing)
• Nephrosis (kidney disease)
• Gingivitis (gum disease)
• Poor wound healing
• Skin lesions

Diagnosis

Diagnosis of Congenital Plasminogen Deficiency typically involves a combination of clinical evaluation and laboratory tests. These tests may include:

• Measurement of plasminogen activity levels
• Genetic testing to identify mutations in the PLG gene

Treatment

Treatment for Congenital Plasminogen Deficiency is primarily aimed at managing symptoms and may include:

• Topical thrombolytic agents for ligneous conjunctivitis
• Systemic administration of fresh frozen plasma or plasminogen concentrates to increase plasminogen levels in the body

Prognosis

The prognosis for individuals with Congenital Plasminogen Deficiency varies depending on the severity of symptoms and the effectiveness of treatment. With appropriate management, many individuals can lead normal lives.

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