The phenotype can be created due to a single somatic mutation. This is because the acquired defect occurs in somatic, or clone, hematopoietic stem cells, rather than germ cells. Īlthough the condition is due to an X-linked chromosome mutation, women are affected at a slightly higher rate than men. The age range of patients in the registry was 3 to 99 years. For instance, according to an analysis of 1610 patients registered in the International PNH Registry in 2012, the median age of all registered patients was 42 years, with the disease duration of 4.6 years. Children can be affected by PNH as well, but it is uncommon. Typically most patients fall in the age range of 30 years to 40 years. Some authors indicate that this number is probably low as the disease remains undiagnosed in individuals with limited symptomatology, or with comorbid conditions that obscure the PNH diagnosis. PNH is rare, with occurrence estimated as high as 15.9 individuals per million worldwide. However, in the last 15 years, advances in treatment such as the development of eculizumab have improved survival to more than 75 percent. Īlthough PNH is a rare condition, it has a significant impact on the quality of life of a patient. About 4 or 5 decades ago 10-year survival for this condition was only 50 percent. Over the following years, the nature of protein deficiencies affecting PNH erythrocytes was identified, and this paved the way for the identification of the responsible genetic mutation. While complement activation was suspected as the etiology for hemolysis, the theory was not formally proven until 1954. This resulted in the first diagnostic test for PNH, known as the Ham test (acidified serum test). Later in 1937, Ham was able to discover that erythrocytes of individuals with PNH hemolyzed when incubated with normal acidified urine. Strubing also noted that the patient's plasma was red following the most severe episodes, and he deduced that intravascular hemolysis was the cause. One of the earliest was that of Strubing, who documented the case of a young adult man with fatigue, abdominal pain, and intermittent hemoglobinuria. While the term paroxysmal nocturnal hemoglobinuria was introduced by Enneking in 1925, case reports dating back to the 1880s can be found. The condition is genetic, with the mutations occurring on the X linked gene. Other findings associated with PNH include thrombosis, renal insufficiency, and in the later course of the disease, even bone marrow failure. Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disease that presents clinically with a variety of symptoms, the most prevalent of which are hemolytic anemia, hemoglobinuria, and somatic symptoms including fatigue and shortness of breath.
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