Paroxysmal Nocturnal Hemoglobinuria

Paroxysmal Nocturnal Hemoglobinuria General Information

Paroxysmal Nocturnal Hemoglobinuria, also known as PNH is an extremely rare medical condition that affects the blood and has an annual rate of 2 or 3 cases per million. There are some specialists who refer to this rare disease as Marchiafava-Micheli syndrome. What characterizes Paroxysmal Nocturnal Hemoglobinuria is thrombosis (a thrombus or a clot that forms within the blood vessel’s lumen and obstructs the flow of blood in the circulatory system), an anemia provoked by the death of blood’s red cells (called induced-complement hemolytic anemia) and the existence of hemoglobin in the patient’s urine (“red urine”).

This hemolytic anemia is the only one that is caused by an intrinsic defect considered acquired and not inherited. This problem usually leads to the absence of the protective proteins of the cell’s membrane. This medical condition affecting the patient’s bloodstream was first described by a German, Paul Strubing, in 1881. More prone to develop this disorder are those people who are suffering from myelodysplastic syndrome or aplastic anemia. Also, it has been proved that the patients diagnosed with Paroxysmal Nocturnal Hemoglobinuria present a high rate of leukemia. Researchers discovered that PNH can manifest two different forms, depending on the context under which the disorder was diagnosed. When the disease develops on its own, it is called primary PNH and in the case that the context is a disorder of the bone marrow, for example aplastic anemia, the patient deals with secondary PNH. The treatment against this disease is supportive, such as transfusions of blood.

Paroxysmal Nocturnal Hemoglobinuria Symptoms

The most common signs and symptoms that characterize this medical condition are similar to those of a typical anemia, for example many patients usually complain of shortness of breath, weakness, extreme fatigue, dizziness, palpitations and trembling. In the course of Paroxysmal Nocturnal Hemoglobinuria, many patients who present primary PNH may start experiencing “red urine” (presence of hemosiderin and hemoglobin in the urine). In their case, anemia develops quickly because they have a superficial breakdown of blood’s red cells. As soon as they observe their red urine, they should call their health care provider and demand a medical examination. In some rarer cases, patients may accuse difficulty while they swallow (a medical condition called dysphagia), pain while they try to swallow (a medical condition called odynophagia) and pain felt in the abdominal area.

Male patients can sometimes present erectile dysfunctions as a cause of a rapid breakdown of the red cells of the bloodstream. Less than 50% of the patients who suffer from Paroxysmal Nocturnal Hemoglobinuria develop a blood clot called thrombosis at some time in the course of their illness. Usually, this is the most important cause of any further life-threatening complications (that include death) when dealing with Paroxysmal Nocturnal Hemoglobinuria. The risks come from the fact that the clots do not form in the usual sites such as in the leg veins. They appear in some uncommon sites: in the liver’s portal vein, in the hepatic vein, in the veins of the skin or in the inferior or mesenteric vein. Very common is the cerebral venous thrombosis.

Paroxysmal Nocturnal Hemoglobinuria Treatment

Because there is no certain way to prevent the appearance of Paroxysmal Nocturnal Hemoglobinuria, it is better to perform a regular complete medical check in order to avoid the development of any severe complications. We strongly advise you to call your health care provider as soon as you notice the presence of blood in your urine and you start feeling weak, dizzy and very tired or you present any other common signs and symptoms specific for anemia. Also, it is very important for the patients who already suffer from PNH to visit their personal doctor if the signs and symptoms get worse, new symptoms appear or if their general health does not improve with the help of the treatment they follow at that moment. The intervention of a specialized person may prove to be crucial for the life of a patient, no matter what his/her disease is.

When seeing a health care provider, he may ask you to do several exams of blood and urine. Blood tests are an important factor when dealing with Paroxysmal Nocturnal Hemoglobinuria. The most common types of lab tests that are required are: Coombes’ test, sucrose hemolysis test, CBC (complete blood count), urinalysis, acid hemolysin or Ham’s test, haptoglobin, flow cytometry and serum hemoglobin. Other doctors may want to verify the levels of reticulocytes, bilirubin or lactate dehydrogenase, in order to see if they are low or raised. After confirming the exact diagnosis, the health care provider must prescribe the proper treatment option for his/her patient. Usually, when dealing with PNH (Paroxysmal Nocturnal Hemoglobinuria), specialists choose a main treatment based on steroids or any other medicines that have a suppressing effect on the patient’s immune system. These types of drugs slow the breakdown of the blood’s red cells. In some more serious cases, transfusions of blood may be the emergency option as well as blood thinners that will stop and prevent the formation of clots.

Health care providers usually provide supplements of folic acids and iron that will help the patient’s organism to fight the illness. A new treatment trial used by several specialists against Paroxysmal Nocturnal Hemoglobinuria is based on a drug called Eculizumab that stops the breakdown of the red blood cells and is prescribed as Soliris. This rare medical condition can be cured with the help of bone marrow transplantation, but only in patients who have a strong organism. Infections appear often in patients with Paroxysmal Nocturnal Hemoglobinuria and this is why they must receive some preventive vaccinations against different bacteria that may lead to the occurrence of severe complications. Every single patient has the right to be informed upon the vaccinations he/she needs and the dangers he/she is exposed to. So you must ask your health care provider what vaccinations are right for your medical condition. Once a treatment is followed, the expectations vary from patient to patient. Death results when extreme bleeding occurs or when there is a severe thrombosis (formation of blood clot). Otherwise, the expectations are higher than 50% for every patient.