Paroxysmal nocturnal hemoglobinuria Paroxysmal nocturnal hemoglobinuria: (par-uk-SIZ-muhl nok-TURN-uhl hee-muh-gloe-buh-NYOOR-ee-uh) A rare and serious blood disease that causes red blood cells to break apart. Paroxysmal means sudden and irregular. Nocturnal means at night. Hemoglobinuria means hemoglobin in the urine. Hemoglobin is the red part of red blood cells. A… (PNH) is a rare disease that presents clinically with a variety of symptoms, the most prevalent of which are hemolytic anemia hemolytic anemia: Anemia due primarily to the excessive hemolysis or destruction of red blood cells , hemoglobinuria hemoglobinuria: (hee-muh-gloe-buh-NYOOR-ee-uh) The presence of hemoglobin in the urine. , and somatic symptoms including fatigue and shortness of breath. Other findings associated with PNH include thrombosis thrombosis: (throm-BOE-suss) A blood clot (thrombus) that develops and attaches to a blood vessel. , renal insufficiency, and in the later course of the disease, even bone marrow failure bone marrow failure: A condition that occurs when the bone marrow stops making enough healthy blood cells. The most common of these rare diseases are aplastic anemia, myelodysplastic syndromes (MDS) and paroxysmal nocturnal hemoglobinuria (PNH). Bone marrow failure can be acquired (begin any time in life) or can be… . The condition is genetic, with the mutations occurring on the X linked gene.
While the term paroxysmal nocturnal hemoglobinuria was introduced by Enneking in 1925, case reports dating back to the 1880s can be found. One of the earliest was that of Strubing, who documented the case of a young adult man with fatigue, abdominal pain, and intermittent hemoglobinuria. Strubing also noted that the patient's plasma plasma: The fluid part of the blood. Plasma is mostly made of water with chemicals in it. These chemicals include proteins, hormones, minerals, and vitamins. was red following the most severe episodes, and he deduced that intravascular hemolysis hemolysis: (hi-MOL-uh-suss) The destruction of red blood cells. was the cause. Later in 1937, Ham was able to discover that erythrocytes of individuals with PNH hemolyzed when incubated with normal acidified urine. This resulted in the first diagnostic test for PNH, known as the Ham test Ham test: A laboratory test that looks at the whether red blood cells break apart too easily when they are placed in mild acid. This test has been used in the past to diagnose paroxysmal nocturnal hemoglobinuria (PNH). Most doctors now use flow cytometry, a more accurate method of testing for PNH. Ham Test… (acidified serum test). While complement activation was suspected as the etiology etiology: The cause or origin of a disease. for hemolysis, the theory was not formally proven until 1954. 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 mutation: Any change or alteration in a gene. A mutation may cause disease or may be a normal variation. Paroxysmal nocturnal hemoglobinuria (PNH) occurs because of a mutation in the PIG-A gene of a single stem cell in the bone marrow. .
Although 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. However, in the last 15 years, advances in treatment such as the development of eculizumab eculizumab: Eculizumab (Soliris ®) is given as an IV into a vein at the doctor’s office or at a special center. The procedure usually takes about 35 minutes. You will probably get an IV once a week for the first 4 weeks. Starting in the 5th week, you will get a slightly higher dose of Soliris every 2 weeks. … have improved survival to more than 75 percent.