What is paroxysmal nocturnal hemoglobinuria?
It’s a rare blood disease that stems from your genes. If you have it, your immune system attacks red blood cells in your body and breaks them down. They lack certain proteins that protect them.
How common is paroxysmal nocturnal hemoglobinuria?
Paroxysmal nocturnal hemoglobinuria is rare. You can get paroxysmal nocturnal hemoglobinuria (PNH) at any age. Please discuss with your doctor for further information.
What are the symptoms of paroxysmal nocturnal hemoglobinuria?
The condition gets its name from one of its symptoms: dark or bright red blood in your urine at night or in the morning. “Paroxysmal” means “sudden,” “nocturnal” means “at night,” and “hemoglobinuria” means “blood in the urine.” It happens in over 60% of people with PNH.
Symptoms of the disease are caused by:
- Broken red blood cells
- Too few red blood cells (which can cause anemia)
- Blood clots in your veins
- You could have many symptoms or just a few. Usually, the more of the faulty blood cells you have in your body, the more the condition will affect you.
Broken red blood cells and anemia may make you:
- Feel tired and weak
- Have headaches
- Feel short of breath
- Have an irregular heartbeat
- Have belly pain
- Have trouble swallowing
- Have pale or yellowish skin
- Bruise easily
- Men may have trouble getting or keeping an erection
There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.
When should I see my doctor?
If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.
What causes paroxysmal nocturnal hemoglobinuria?
PNH is genetic. But you don’t get it from your parents, and you can’t pass it on to your kids.
A change in a gene, called a mutation, causes your body to make abnormal red blood cells. These cells don’t have proteins that shield them from your immune system. So your body breaks them down. Scientists call this process “hemolysis.”
What increases my risk for paroxysmal nocturnal hemoglobinuria?
Some doctors believe PNH is related to weak bone marrow. People with a certain type of anemia, called aplastic anemia, are more likely to get PNH.
Diagnosis & treatment
The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.
How is paroxysmal nocturnal hemoglobinuria diagnosed?
Your doctor will ask about your medical history and any symptoms you’ve noticed. He may also ask you:
- Have you noticed blood in your urine?
- What medications do you take?
- Have you had any signs of blood clots?
- Have you had any stomach or digestive problems?
- Have you been tested for aplastic anemia or a bone marrow disorder?
You will get routine blood tests. One will count of the number of blood cells you have. You will probably also get other tests, such as flow cytometry, which checks on whether your red blood cells have the proteins that should protect them.
Your doctor may also check your iron levels or get a sample of your bone marrow. If you have symptoms of a blood clot, he’ll use other tests to look for those, too.
How is paroxysmal nocturnal hemoglobinuria treated?
Most treatments for PNH aim to ease symptoms and prevent problems. Your treatment will depend on how severe your symptoms and disease are.
If you have only a few symptoms from anemia, you may need:
- Folic acid to help your bone marrow make more normal blood cells
- Iron supplements to make more red blood cells
Other treatments include:
Blood transfusions. These help treat anemia, the most common PNH problem.
Blood thinners . These medicines make your blood less likely to clot.
Eculizumab (Soliris). The only drug approved to treat PNH, it prevents the breakdown of red blood cells. This can improve anemia, lower or stop the need for blood transfusions, and reduce blood clots. It can make you more likely to get a meningitis infection, so you may need to get a meningitis vaccine.
Bone marrow stem cell transplant. This procedure is the only cure for PNH. To get one, you’ll need someone healthy, usually a brother or sister, to donate stem cells to replace the ones in your bone marrow. These are not “embryonic” stem cells.
Due to serious health risks, doctors usually only offer a bone marrow transplant to young people with severe PNH. If your doctor thinks it would work for you, talk with him about the risks and benefits.
If your PNH doesn’t get better with usual treatments, you may want to ask your doctor if you can take part in a clinical trial. These research studies try out new ways to treat PNH, before they’re available to everyone. Ask your doctor what’s involved and what you should consider before you sign up.
Lifestyle changes & home remedies
What are some lifestyle changes or home remedies that can help me manage paroxysmal nocturnal hemoglobinuria?
The following lifestyles and home remedies might help you cope with paroxysmal nocturnal hemoglobinuria:
Eat a healthy diet. Your body absorbs iron better when you get it with vitamin C. Try combos like iron-fortified cereal with strawberries or spinach salad with orange slices.
Exercise. Fatigue makes it harder to stay active. Ask your doctor what kind of workout is best for you. If your red blood cell count is very low, skip activities that make your heart beat faster, hurt your chest, or strain your breathing.
Protect yourself. Try not to get infections. Wash your hands often, and avoid crowds and sick people. Tell your doctor if you have a fever or feel more tired than usual. Ask if you are up to date on your vaccines.
Get support. Talk with other people who know what you’re going through. Ask your doctor about ways to get connected, such as a PNH support group that meets locally or online.
If you’re a woman who wants to get pregnant, talk to your doctor first. PNH can cause problems that make pregnancy risky for you and your baby. If you do become pregnant, your doctors will closely follow how you and the baby are doing.
Tend to your emotions. They’re part of your health, too. It’s OK to feel anger, sadness, or stress after your diagnosis. You may find that it helps to talk with a counselor, especially if those feelings start to affect your daily life. Ask your doctor for a referral.
You may also want to consider joining a support group, where you can talk with other people who understand what you’re going through because they’ve been there, too. Ask your doctor about that, too.
Your friends and family will want to know what’s going on with you and what they can do for you. Let them know what would be helpful.
If you have any questions, please consult with your doctor to better understand the best solution for you.
Hello Health Group does not provide medical advice, diagnosis or treatment.
Paroxysmal Nocturnal Hemoglobinuria (PNH) https://www.webmd.com/a-to-z-guides/paroxysmal-nocturnal-hemoglobinuria-pnh#4 Accessed October 20, 2017
Paroxysmal Nocturnal Hemoglobinuria https://emedicine.medscape.com/article/207468-overview Accessed October 20, 2017
Review Date: October 20, 2017 | Last Modified: October 21, 2017