PNH

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired, life-threatening disease of the blood characterized by destruction of red blood cells by the immune system. It is a type of hemolytic anemia and it leads to the release of hemoglobin into the urine (hemoglobinuria), primarily at night (paroxysmal).

Signs and symptoms

The clinical features of PNH are highly variable and can occur at any age. The most common symptoms are fatigue, shortness of breath, hemolytic anemia, dark urine, and abdominal pain. Other symptoms can include difficulty swallowing, erectile dysfunction, and thrombosis.

Causes

PNH is caused by a mutation in the PIGA gene, which leads to a deficiency of glycosylphosphatidylinositol (GPI), a molecule that anchors proteins to the cell surface. This deficiency makes the red blood cells susceptible to attack by the immune system.

Diagnosis

The diagnosis of PNH is typically made by flow cytometry, a test that measures the amount of GPI-linked proteins on the surface of red blood cells. Other tests that may be used include a complete blood count (CBC), liver function tests, and a bone marrow biopsy.

Treatment

Treatment for PNH is primarily aimed at managing the symptoms and preventing complications. This may include blood transfusions, iron supplements, and medications to suppress the immune system. In severe cases, a bone marrow transplant may be considered.

Prognosis

The prognosis for individuals with PNH varies. Some people may have a mild form of the disease and live a normal life span, while others may have severe disease and die from complications such as thrombosis or leukemia.

See also

• Hemolytic anemia
• Bone marrow transplant
• Thrombosis

References

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