Paroxysmal Nocturnal Hemoglobinuria | Pathophysiology🩺

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Paroxysmal Nocturnal Hemoglobinuria | Pathophysiology🩺
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What is paroxysmal nocturnal hemoglobinuria (PNH)?
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare blood disorder named for a single symptom: Red/brown/dark urine noticed during late night or early morning trips to the bathroom. “Paroxysmal” means sudden; “nocturnal” means night; and “hemoglobinuria” refers to pee stained with blood. Your pee is dark because your immune system is breaking down your red blood cells. Healthcare providers call this hemolysis.
Dark-colored pee is only one of many PHN symptoms that may signal potentially serious illnesses. Left untreated, PNH may cause hemolytic anemia, chronic kidney disease or thrombosis (blood clots in your blood vessels). Healthcare providers treat PNH with medication that prevents blood cell damage.
Who does it affect?
About 6 per 1 million people are diagnosed with PNH each year. This condition affects men and women between the ages of 30 and 40. Women are slightly more likely than men to develop PNH. Often, people who have bone marrow disorders like aplastic anemia or myelodysplastic syndrome develop paroxysmal nocturnal hemoglobinuria.
What is the difference between hemoglobinuria and hematuria?
Both conditions cause blood in your urine. The difference is hematuria is red blood cells in your urine, while hemoglobinuria is hemoglobin in your urine. Hemoglobin is a protein in your red blood cells that makes blood look red.
Symptoms and Causes
What causes paroxysmal nocturnal hemoglobinuria?
PNH happens when a genetic flaw affects how your red blood cells and platelets work. The flaw launches a cascade of events that create serious and potentially life-threatening medical issues.
The cascade starts in your bone marrow, where your body makes stem cells that eventually become mature red blood cells, white blood cells and platelets. In PNH, a gene called PIGA in one stem cell mutates or changes into an abnormal stem cell. This cell divides and makes additional abnormal stem cells that become abnormal red blood cells and platelets.
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