Signs and Symptoms
Most people with "primary PNH" have red urine at some point in their disease course. Many of them continue to have low-grade breakdown of red blood cells, leading to anemia. Typical symptoms of anemia are tiredness, shortness of breath, and palpitations. On laboratory examination of the urine, breakdown products of red blood cells (hemoglobin and hemosiderin) may be identified. A small proportion of patients report abdominal pain, dysphagia (difficulty swallowing) and odynophagia (pain during swallowing), as well as erectile dysfunction in men - this occurs mainly when the breakdown of red blood cells is rapid.
Forty percent of patients develop thrombosis (a blood clot) at some point in their illness. This is the main cause of severe complications and death in PNH. These may develop in common sites (deep vein thrombosis of the leg veins and resultant pulmonary embolism when these clots break off and enter the lungs), but, in PNH, blood clots may also form in more unusual sites: the hepatic vein (causing Budd-Chiari syndrome), the portal vein of the liver (causing portal vein thrombosis), the superior or inferior mesenteric vein (causing mesenteric ischemia), and veins of the skin. Cerebral venous thrombosis, an uncommon form of stroke, is more common in PNH.
Read more about this topic: Paroxysmal Nocturnal Hemoglobinuria
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