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For those living with a rare disorder like paroxysmal nocturnal hemoglobinuria (PNH), it’s easy to feel like you’re lost without a road map. Digging for answers on the internet is hard — and when you do find reliable information, it can raise even more questions.
This article will cover eight of the top questions people ask about PNH, along with answers in clear, nontechnical terms. To learn more about your specific condition, talk to your doctor or hematologist (blood specialist).
PNH is a rare condition. Studies show this condition affects 1 to 5 individuals per million people. Because PNH is such a rare disease, it might be hard to find answers to some of your questions. By joining online communities like myPNHteam, you can share experiences and get answers from others who are living with PNH.
The only known way to cure PNH is with bone marrow transplantation. Bone marrow is the spongy tissue inside the bones that makes new blood cells. This treatment is usually recommended for people who have PNH with severe symptoms and complications.
The most common approach is known as an allogeneic transplant, in which healthy bone marrow cells come from a donor. The process of transplantation starts with destroying your unhealthy bone marrow. Doctors use different processes and medications to kill off your abnormal blood-forming cells causing PNH. Therapies used to kill off your bone marrow include:
After your bone marrow has been destroyed, a health care provider injects the donated cells into your bloodstream. The cells travel into your bones and begin making new, healthy blood cells, replacing your bone marrow. Since the cells that were causing PNH are gone, a bone marrow transplant cures your PNH.
Other PNH medications don’t cure the disorder — but they do help manage it. Complement inhibitors work by blocking the complement system. This part of the immune system helps destroy invading bacteria and infected cells. The U.S. Food and Drug Administration (FDA) has approved several complement inhibitors for PNH. They include:
Complement inhibitors help prevent the immune system from destroying red blood cells (RBCs), a process known as hemolysis. These medications also lower the risk of thrombosis (dangerous blood clots) and improve your quality of life. Your treatment plan may also include steroids and other medications to dampen (weaken) your immune system. Your health care provider will consider your overall health and the severity of your PNH when deciding what to recommend.
PNH isn’t a form of cancer, but it’s associated with certain blood cancers. Studies show that 2.3 percent to 6.4 percent of people with PNH develop secondary cancers. Most cases develop between seven and 10 years after diagnosis with PNH. Blood cancers associated with PNH include acute myeloid leukemia and myelodysplastic syndrome (MDS).
Bone marrow failure is common in people with PNH. People with bone marrow failure don’t make enough healthy blood cells. As a result, your body can’t function like it normally would. Other types of bone marrow failure include MDS and aplastic anemia.
Sometimes, it can be hard to tell the difference between cancer and PNH symptoms. Both conditions can cause:
If you notice any new or worsening symptoms, be sure to talk to your doctor. They’ll run tests to make a final diagnosis.
Yes, PNH is an autoimmune disease. This means the immune system mistakenly attacks and destroys the abnormal blood-forming cells. PNH affects your:
PNH isn’t an inherited disease. Instead, people acquire new mutations (changes) in their DNA throughout their lives. PNH develops when your blood-forming cells randomly develop a new mutation. The most common gene involved in PNH is the PIGA gene.
The PIGA gene provides instructions for making anchor proteins. These proteins help attach or “anchor” protective proteins to your cells’ membranes. These protective proteins shield blood-forming cells from being destroyed by the immune system.
PNH cells that lack these anchor proteins are destroyed before they can fully form healthy blood cells. This leads to a condition known as hemolytic anemia. Studies also show that PNH may involve abnormal WEBs that attack healthy blood-forming cells, which can lead to low blood cell levels.
The mutations causing PNH are acquired over time and occur only in your blood-forming cells. Hereditary diseases are passed down through mutations in sperm or egg cells. Because the mutations in PNH are not present in these reproductive cells, PNH is not passed from parents to children. Most people with PNH have no family history of this blood disorder.
It’s possible to die of PNH if it’s left untreated. However, new treatments help people with this condition live longer than ever. This is why it’s important to talk with your doctor and stick to your treatment plan. Around 40 percent of people with PNH die from developing blood clots. Controlling PNH symptoms also helps prevent life-threatening blood clots and infections.
Older research showed that people with PNH lived an average of 15 to 20 years. However, newer studies have found that life expectancy continues to climb. Health experts believe that PNH treatments will soon help people live average lifespans.
Health experts recommend that people with PNH get regular vaccinations. This is because certain PNH treatments weaken your immune system. For instance, complement inhibitors such as ravulizumab, eculizumab, and pegcetacoplan come with warnings for life-threatening bacterial infections.
Some complement inhibitors require vaccinations before you can receive your first dose. The prescribing instructions for iptacoplan note you need to complete certain vaccinations first. If you haven’t been vaccinated, you may need to take antibiotics to avoid infections.
Examples of vaccinations recommended for people living with PNH include:
There have been isolated reports of vaccines causing or worsening PNH symptoms. One case study followed a 29-year-old female who developed PNH symptoms after a COVID-19 infection followed by getting a COVID-19 vaccine. This is a very rare complication of the vaccine. Health experts still recommend that people with PNH get vaccinated to avoid infections.
However, researchers have found that COVID-19 can make PNH attacks worse, and the vaccine can reduce the severity of infection. Therefore, in most people, the potential benefits of vaccination are thought to outweigh the potential risks.
Yes, PNH can cause bruising. The disorder affects your ability to make platelets. These sticky cell fragments help blood clots form. Thrombocytopenia (low platelet levels) raises the risk of bruising. You’re more likely to bruise easily after minor injuries. Other signs of easy bleeding include:
If you show signs of easy bleeding or other symptoms of PNH, talk to your hematology team. They’ll help figure out whether they’re due to PNH or another disorder. If you’re still having PNH symptoms despite treatment, your doctor may recommend updating your treatment options to better meet your needs.
On myPNHteam, people with paroxysmal nocturnal hemoglobinuria and their loved ones come together to ask questions, give advice, and share their stories with others who understand life with PNH.
What questions do you still have about PNH? What answers can you offer to other myPNHteam members? Share your experiences in the comments below, or start a conversation by posting on your Activities page.
Fatima Sharif, MBBS, FCPS
graduated from Aga Khan University, Pakistan, in 2017 after completing medical school.
Learn more about her here.
Emily Wagner, M.S.
holds a Master of Science in biomedical sciences with a focus in pharmacology. She is passionate about immunology, cancer biology, and molecular biology.
Learn more about her here.
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