Paroxysmal nocturnal hemoglobinuria is a rare disease that causes premature breakdown of the red blood cells. Figures published by the Sidney Kimmel Comprehensive Cancer Center at John Hopkins show that about two people out of every one million people globally suffer from PNH.
Moreover, the disease tends to affect young adults between the ages of 35 and 40 years.
What is PNH?
In simple terms, PNH causes red blood cells that lack a gene called PIG-A to disintegrate. The PIG-A gene plays a significant role in helping essential proteins stick to red blood cells, and cells that lack these proteins are generally unable to protect themselves from substances called complements, leading to premature breakdown. According to the National Institutes of Health (NIH), PNH has certain unique features that make it quite deadly, including the following:
- Patients are likely to develop hemolytic anemia (Aplastic Anemia & MDS International Foundation).
- Patients may develop blood clots (thrombosis), especially in large vessels like cerebral and subdermal veins.
- Patients generally have a three to five percent chance of developing leukemia.
- Headaches
- Shortness of breath
- Back pain
- Fatigue
- Severe abdominal pain (Painful Lymph Nodes in The Groin)
- Bright red blood in the urine (hemoglobinuria)
- Easy bruising or bleeding
Understanding the Symptoms
Statistics from the Sidney Kimmel Comprehensive Cancer Center show that hemoglobinuria occurs in at least 50% of all PNH patients. Still, you should seek medical attention if you experience any of these symptoms. Your doctor will review your medical history and carry out diagnostics tests and exams for PNH, which includes the following:
- Sucrose hemolysis (sugar water) test
- Complete blood count (CBC) test
- Ham test
- Coombs’ test
- Urinalysis
- Flow cytometry
- Serum hemoglobin and haptoglobin test.
It is important to note that blood transfusions could affect Ham and sugar water tests. For this reason, medical experts recommend the flow cytometry test because it does not produce false results in cases where patients have undergone blood transfusions. Besides blood tests, doctors look for signs of red and painful nodules that may occur on the surface of the skin, papilloedema, purpura, and ascites.
Carrying Out The Treatment For PNH
After carrying out the relevant blood tests and physical exams, your doctor will determine the proper medication to prescribe. In general, doctors prescribe drugs that suppress the immune system or steroids to prevent the breakdown of red blood cells. In some cases, a blood transfusion may be necessary. If you have experienced mild PNH symptoms, your doctor may prescribe iron supplements and folic acid to help ramp up your body’s red blood cells.
For patients with signs of acute thrombosis, the Johns Hopkins Sidney Kimmel Comprehensive Cancer Center recommends the prescription of long term anticoagulation medications to prevent the formation of blood clots. At the same time, patients taking these anticoagulation drugs should undergo thrombolytic therapy. Nevertheless, this treatment regime does not work in all cases. Some patients will develop blood clots even after receiving anticoagulation drugs and thrombolytic therapy. For this reason, it is advisable to stop taking medications that may increase the risk of developing blood clots like oral birth control pills.
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If Normal Treatments Fail
If the treatment options described above fail, your doctor may decide to carry out a bone marrow transplantation (BMT) procedure. This procedure generally involves replacing a patient’s bone marrow cells with those of a healthy sibling such as a brother. However, this procedure is fraught with various risks. To start with, the risk of dying even after undergoing bone marrow transplantation is quite high (up to 20%, according to the Johns Hopkins Sidney Kimmel Comprehensive Cancer Center – hopkinsmedicine.org). Secondly, the probability of finding a healthy donor is quite low.
A report was published by the National Institutes of Health states (www.nlm.nih.gov) that it is wise to vaccinate PNH patients against certain types of bacteria to prevent opportunistic infections. As such, your doctor should recommend the right vaccines.
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Conclusion
Overall, paroxysmal nocturnal hemoglobinuria is a disease that can affect anyone at any age. Classic symptoms of the disease include severe abdominal pain, bright red blood in urine, and shortness of breath. Treatment varies depending on one’s symptoms and may include prescription of anticoagulation drugs, bone marrow transplantation, and immune system suppressants to prevent the breakdown of red blood cells.