Posted on Feb 29, 2012 | Comments 0
PNH or paroxysmal nocturnal hemoglobinuria is a rare and acquired disease of the blood which is also called Marchiafava-Micheli syndrome. The potentially fatal disease is not inherited genetically but develops in the body over time. It can affect both males and females and is not particularly age specific. However it is very rare and is seen in an extremely small portion of the population.
What is paroxysmal nocturnal hemoglobinuria
The symptoms of the disease can be summed by quite well by the name it has been given. Paroxysmal means that which is sudden or irregular. Nocturnal has to do with night and it is supposed that the disease strikes particularly more severely at night. This is because most recorded cases tend to occur in the night or towards early morning. The last is hemoglobinuria which refers to hemoglobin in the urine which makes the urine shade go darker.
Therefore paroxysmal nocturnal hemoglobinuria can be described as a blood disorder in which red blood cells break apart all of a sudden leading to hemoglobin being swept away by the urine.
The disorder may be the first step towards a more serious disease such as aplastic anemia, acute myelogenous leukemia or even myelodysplastic syndrome.
Symptoms of paroxysmal nocturnal hemoglobinuria
The most obvious symptom is the darkening of the urine. The presence of hemoglobin is what gives the red blood cells its red color. Now disease is caused by a defect in the cell membrane that ruptures the red blood cell.
This in turn shows two symptoms, the first is dark almost red colored urine caused by the hemoglobin in it and the second is anemia due to the destruction of the red blood cells in the body.
In some cases there can be difficulty in swallowing or even some pain while trying to swallow. Blood clots can also be formed internally and lead to deep vein thrombosis or pulmonary embolism.
Treatment of paroxysmal nocturnal hemoglobinuria
There are simple blood tests which can diagnose the disorder and once positively identified it can be treated. The treatment is multipronged and individualized based on the patient. The patient is given drugs that can suppress the immune system so that the destruction of red blood cells can be slowed down.
Folic acid and iron supplements are given to the patient and blood thinners may also be prescribed to prevent clot formation. These are short term treatments for acute attacks.
For the long term cure the patient can undergo bone marrow transplantation. The outcome of the treatment varies from patient to patient. Some can survive over 10 years after the diagnosis of the blood disorder while others may die from complications arising from thrombosis or external bleeding. There is as yet no known way to prevent the disorder.
Posted in: Blood Disorders