Living with any rare condition is hard, and paroxysmal nocturnal hemoglobinuria (PNH) is no different. Most people with PNH don’t have clear symptoms. You may have had a range of signs that something was wrong, but your symptoms didn’t seem to fit with any syndrome. Common symptoms of PNH can be hard to live with. They include fatigue, general malaise, pain, and shortness of breath. When left untreated, the disease also can cause blot clots, kidney problems, and even bone marrow failure.
Because PNH doesn’t affect many people – as few as 1 in 1 million – most doctors won’t have ever seen it before. It usually strikes when you’re younger, around age 30 or 40. It can even happen in childhood. You may have had a hard time finding out that you had PNH to start with, as many people do. That’s in part because it’s rare, but also because the disease can look different in each person. If you have another condition, too, it makes PNH harder to diagnose. However it happens, finding out you have a rare and incurable blood disorder is a shock.
PNH is caused by a genetic change in your cells. But it doesn’t run in families. Your friends and family members may not have even heard of it before. You’ll no doubt have many questions about why this happened to you and what you can expect out of life with PNH. You’ll want to learn more in order to manage it and help the people in your life understand what you’re going through.
It’s tough to learn you have a condition that could, without treatment, lead to other serious health problems. But PNH treatments are much better than they used to be, and with proper care, your outlook for life is good.
How You’ll Feel With PNH
PNH gets its name from the dark-colored pee you may see, especially at night or first thing in the morning. But it’s likely that you found out you had PNH only after you’d had extreme tiredness that didn’t go away after a good night’s rest. PNH symptoms can affect your day-to-day life. Along with the fatigue, you may have:
- Shortness of breath
- Trouble swallowing
- Spasms in your throat
- Pain in your stomach
- Pain in your back
- Erectile dysfunction
- Kidney problems
Once you know you’ve got PNH, your doctors can help you understand your treatment options. Treatments will address the underlying disease that’s causing damage to your blood cells, leading to anemia (low red blood cell counts), and heightening your risk for other serious complications. They also should improve your symptoms and quality of life with PNH.
What to Expect From PNH Treatment
Since PNH happens when a gene that makes your blood is changed by mistake, your condition won’t go away. There’s nothing you could have done to prevent or change your PNH either. The only cure is a bone marrow transplant, but that’s a long and risky procedure. Your doctor isn’t likely to recommend it unless your condition is very severe or other treatments aren't working. You’ll need long-term treatment to manage your PNH as a chronic condition.
It used to be that doctors could only offer supportive treatment for PNH. You may have needed many blood transfusions and extra iron to help with anemia. You’d take blood thinners to lower your risk for potentially life-threatening blood clots. You may still require some of these, but the main treatment for PNH today looks different. The genetic change in PNH affects certain proteins that normally attach at the surface of your blood cells. Some of those proteins play an important role in protecting your cells from your immune system. Without them, your blood cells are missing their protective shield. They get destroyed by a part of your immune system called the complement system.
While today’s treatments can’t fix the underlying issue that makes your blood cells more open to immune attack, they can help to block the part of your immune system that’s doing the damage. These PNH treatments are considered life-saving. You’ll be less likely to need blood transfusions. Your risk of blood clots or other complications also will go down. But because the medicine you need acts on your immune system, you’ll have more risk for certain infections.
Treatments for PNH rely on antibodies, so you’ll need to see your doctor for regular infusions. The first medicine approved for PNH works, but it had some limitations. About 1 in 3 people who take it still have fatigue because their blood cells continue to get broken down despite treatment. There’s now a second medicine that works in the same way. Instead of an infusion every 2 weeks, you’ll need it every 8 weeks. Ask your doctor which treatment they recommend you try first and how it will affect your quality of life.
If you’re taking one of these medicines and you’re still anemic – and especially if you need blood transfusions – you can take another medicine that acts on a different part of the complement system. You’ll need to give yourself an infusion 2-3 times a week.
Your PNH treatments may come with many side effects, such as:
- Headache
- Pain or swelling in your nose or throat
- Trouble sleeping
- Tiredness
- Dizziness
- Nausea
If you think you’re having troubling side effects from your treatment or you're having side effects that don’t go away, make sure your doctor knows.
Seeing Your Doctor
You’ll need to see your doctor often for infusions. They’ll check to see how you’re doing and how well the medicine is working to prevent damage to your blood cells. Along with the medicine to help keep your complement system under wraps, you may need other therapy depending on how old you are, your health or any other conditions you have, and how severe your PNH and its symptoms are. Your doctor may recommend other supplements or treatments including:
- Folic acid
- Iron
- Steroids
- Blood thinners
- Blood transfusions
- Bone marrow transplant
- Immune suppressing drugs
- Growth factors
- Hormones
Ask your doctor about how you’re doing with treatment. Find out if you should consider any other treatment options, how often you’ll need monitoring, and how any other medicines you’re taking or therapies you’ll need will affect your quality of life.
Lifestyle Changes and Precautions to Consider
When you have a chronic condition, it’s a good idea to take extra care of yourself. Eat right and exercise. Take steps to manage stress and other difficult emotions that you may have related to your condition or other things. It also helps to have support from family and friends who understand what you’re going through. If you need more help coping with your diagnosis or its treatment, ask to see a counselor. If you’re struggling with costs, talk to a social worker who can help you find ways to lower them.
When you have PNH, you’ll need to take some special precautions when you fly or plan to spend time at high elevations. Check with your doctor first to make sure your blood counts are OK. If you’re traveling by airplane, keep yourself well hydrated and move around at least every couple of hours.
You’ll need to talk to your doctor about vaccines. You may need to get certain ones to protect you from bacterial infections. But you may want to skip others, such as the annual flu shot. That’s because there have been some cases in which a flu shot caused a worsening of blood cell damage. The evidence is limited, so talk to your doctor about what they recommend to protect yourself from infection or other illnesses. You’ll also need to take special care and precautions if you need surgery to avoid bleeding, blood clots, or other issues.
If you have PNH and would like to have children, talk to your doctors about your options. Pregnancy can make your blood condition worse and so doctors often don’t recommend it. You’ll have more risks for premature birth, low birth weight, and other problems. But many people who have a baby with PNH don’t have any of these problems. With proper care and monitoring, it’s possible to have a healthy baby. Since PNH is not inherited, you won’t pass it on to your kids.
Planning for Your Future With PNH
It may feel like there’s a lot to manage. But it’s important that you keep up with your treatment to protect your health and future. In the past, people with PNH often died from complications of blood clots within about 10 or 20 years. Now that there are treatments to address the underlying problem, most people can expect to live about as long with PNH as they would have without it. With good care and healthy habits, you can look forward to a long and healthy life with PNH.
Show Sources
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SOURCES:
Rare Diseases International: “Life with a rare disease.”
StatPearls: “Paroxysmal Nocturnal Hemoglobinuria.”
Rarediseases.org: “Paroxysmal Nocturnal Hemoglobinuria.”
Michigan State University: “Self-care tools for chronic health conditions.”
Cleveland Clinic: “Paroxysmal Nocturnal Hemoglobinuria.”
Hopkins Medicine: “Paroxysmal Nocturnal Hemoglobinuria.”
Blood: “Diagnosis and management of paroxysmal nocturnal hemoglobinuria.”
MedlinePlus: “Eculizumab Injection.”
AA MDS International Foundation: “Special Precautions for PNH Patients.”
Leukemia Research Reports: “Successful pregnancy outcome in paroxysmal nocturnal hemoglobinuria (PNH) following escalated eculizumab dosing to control breakthrough hemolysis.”
