Which are the symptoms of Protein C Deficiency?

Symptoms of Protein C Deficiency

Protein C deficiency is a rare genetic disorder that affects the body's ability to regulate blood clotting. It is caused by a mutation in the PROC gene, which is responsible for producing protein C, a natural anticoagulant. When protein C levels are low, the risk of abnormal blood clot formation increases, leading to various symptoms and complications.

1. Venous Thrombosis: The most common symptom of protein C deficiency is the development of venous thrombosis, which refers to the formation of blood clots in the veins. These clots typically occur in the deep veins of the legs, causing pain, swelling, and redness. If left untreated, the clot can break loose and travel to the lungs, resulting in a potentially life-threatening condition called pulmonary embolism.

2. Recurrent Miscarriages: Protein C deficiency can also lead to recurrent miscarriages in women. The abnormal blood clotting can affect the placenta, reducing blood flow to the developing fetus and increasing the risk of pregnancy loss.

3. Superficial Thrombophlebitis: Individuals with protein C deficiency may experience superficial thrombophlebitis, which is the inflammation and clotting of veins close to the skin's surface. This condition causes pain, redness, and swelling in the affected area.

4. Deep Vein Thrombosis (DVT): Deep vein thrombosis is a serious complication of protein C deficiency. It occurs when blood clots form in the deep veins of the body, typically in the legs. DVT can cause severe pain, swelling, and warmth in the affected limb. If a clot breaks loose and travels to the lungs, it can result in a pulmonary embolism, which requires immediate medical attention.

5. Pulmonary Embolism (PE): Protein C deficiency increases the risk of pulmonary embolism, a condition where a blood clot blocks one of the arteries in the lungs. Symptoms include sudden shortness of breath, chest pain, coughing up blood, and rapid heartbeat. PE is a medical emergency and requires immediate treatment.

6. Skin Necrosis: In rare cases, individuals with protein C deficiency may develop skin necrosis, which is the death of skin tissue. This occurs due to the formation of blood clots in the small blood vessels of the skin, leading to painful, darkened patches of skin.

7. Stroke: Protein C deficiency can increase the risk of stroke, particularly in young individuals. A stroke occurs when the blood supply to the brain is interrupted, leading to neurological symptoms such as weakness, numbness, difficulty speaking, and loss of coordination.

It is important to note that the severity and frequency of symptoms can vary among individuals with protein C deficiency. Some individuals may experience mild symptoms or remain asymptomatic until they encounter a triggering event, such as surgery or trauma.