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If you’re 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 with your doctor or hematologist (blood specialist).
Studies show that PNH affects only 1 to 5 people per million. 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 can be very risky, so it’s usually recommended for people who have severe symptoms and complications.
The most common approach is known as an allogeneic transplant, in which healthy bone marrow cells come from a donor.
Before receiving the donor cells, your medical team needs to destroy your existing, unhealthy bone marrow — including the cells causing PNH. This process is called conditioning, and it typically involves one or more of the following treatments:
After your bone marrow has been cleared, the donated stem cells are infused into your bloodstream. These cells find their way into your bones and begin making new, healthy blood cells. Over time, the donor cells fully replace your own bone marrow. Since the cells that were causing PNH are gone, a bone marrow transplant can cure 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.
Complement inhibitors help prevent the immune system from destroying red blood cells, a process known as hemolysis. These medications also lower the risk of thrombosis (a dangerous blood clot) and improve your quality of life.
Your treatment plan may also include steroids and other medications to dampen (weaken) your immune system. Your healthcare 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 linked to certain blood cancers. Studies show that 2.3 percent to 6.4 percent of people with PNH have secondary cancers, often between seven and 10 years after diagnosis. Blood cancers associated with PNH include acute myeloid leukemia and myelodysplastic syndrome.
This connection may stem from how PNH develops — it starts with a single bone marrow stem cell that acquires a mutation in the PIGA gene, creating a “clone” of abnormal cells. Over time, these clones can change in ways that may increase the risk of blood cancers.
Bone marrow failure is common in people with PNH. People with bone marrow failure don’t make enough healthy blood cells. As a result, the body can’t function like it normally would. Other types of bone marrow failure include myelodysplastic syndrome and aplastic anemia.
Sometimes, it may be hard to tell the difference between cancer and PNH symptoms. Both conditions can cause:
If you notice new or worsening symptoms, be sure to talk to your doctor. They’ll run tests to make a final diagnosis.
PNH is a blood disorder that has an autoimmune component. In PNH, the immune system mistakenly attacks and destroys platelets and red blood cells. PNH affects:
PNH isn’t an inherited disease. It doesn’t run in families and isn’t passed down from parents to children.
Instead, PNH is an acquired disorder, which means it develops over time due to a mutation (change) in the DNA of blood-forming cells. The most common gene involved in PNH is the PIGA gene.
The PIGA gene provides instructions for making anchor proteins, which help attach (anchor) protective proteins to cells’ membranes. These protective proteins shield blood-forming cells from the immune system.
PNH cells that lack anchor proteins are destroyed before they can fully form healthy blood cells. This leads to a condition known as hemolytic anemia. Studies show that PNH may also involve abnormal white blood cells that attack healthy blood-forming cells, which may lead to low blood cell levels.
The mutations causing PNH are acquired over time and happen only in blood-forming cells. Hereditary diseases are passed down when the mutations are found in sperm or egg cells. This means that PNH isn’t passed from parents to children. Most people who have PNH have no family history of this blood disorder.
It’s possible to die of PNH if it’s left untreated. Before modern treatments, many people with PNH were at risk of dying from blood clots. Today, new treatments have lowered this risk and helped people live longer than ever. Controlling PNH symptoms also helps prevent life-threatening blood clots and infections. This is why it’s important to talk with your doctor and stick to your treatment plan.
Older research showed that people with PNH lived an average of 15 to 20 years, but newer studies have found that life expectancy continues to climb. Researchers 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 and eculizumab come with warnings for life-threatening bacterial infections.
Some complement inhibitors require vaccinations before you can receive your first dose. The prescribing instructions for iptacopan note that 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:
A few case reports have linked vaccines to PNH symptoms, but these occurrences are extremely rare. It’s still recommended that people with PNH get vaccinated to prevent serious illness.
Researchers have found that the COVID-19 virus can make PNH attacks worse, and the vaccine can reduce the severity of COVID-19 infection. For most people, the benefits of getting vaccinated are much greater than the risks.
PNH can cause bruising in individuals with thrombocytopenia, a low level of platelets — sticky cell fragments that help blood clots form. Thrombocytopenia raises the risk of bruising, making you 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 with your hematology team. They’ll help figure out whether the cause is PNH or another disorder. If you still have symptoms despite treatment, your doctor may recommend updating your treatment options to better meet your needs.
On myPNHteam, people share their experiences with paroxysmal nocturnal hemoglobinuria, get advice, and find support from others who understand.
What questions do you still have about PNH? What answers can you offer myPNHteam members? Let others know in the comments below.
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