Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired hematopoietic stem cell disorder characterized by the abnormal breakdown of red blood cells, leading to hemolytic anemia. PNH is caused by a mutation in the PIG-A gene, which results in the deficiency of certain proteins on the surface of blood cells.
The prevalence of PNH is estimated to be around 1 to 10 cases per million individuals. Although it is considered a rare disease, it is important to note that PNH can occur in people of all ages and ethnic backgrounds. The condition is often diagnosed in young adulthood, with a median age of onset in the late 30s.
PNH is associated with a range of symptoms, including fatigue, shortness of breath, abdominal pain, and blood clots. The severity of the disease can vary widely among individuals, with some experiencing mild symptoms and others facing life-threatening complications.
Diagnosis of PNH involves specialized laboratory tests, such as flow cytometry, to detect the absence or reduced expression of certain proteins on blood cells. Treatment options for PNH include blood transfusions, medications to reduce hemolysis, and targeted therapies like eculizumab.
While PNH is a rare condition, it is crucial for healthcare professionals to be aware of its existence and consider it in the differential diagnosis of patients presenting with unexplained anemia or other related symptoms.