Paroxysmal nocturnal hemoglobinuria (PNH) is a very rare disease. It’s also very complex. If you or a loved one has recently been diagnosed with PNH, you may wonder what sort of challenges you will face. It’s hard to know right away. Sometimes, people with PNH have few, if any, symptoms. Other times, they have many different symptoms and complications that dramatically impact their quality of life.
Since PNH is so rare – there are only 1.3 new cases diagnosed per million people each year – your doctor may not know a lot about it, either. While it used to be thought that people with PNH only live on average of 15 to 20 years, research suggests that life expectancy has been increasing over the last 2 decades. Soon, PNH patients may have a life span similar to that of people without the condition.
But it’s important to be aware of the challenges you may have so that you can best face them head-on. Here’s a closer look at them.
Quality-of-life issues. With PNH, you have hemolysis, a condition where red blood cells are destroyed before your body can replace them. As a result, you may have many symptoms that impact your ability to do daily activities. This includes:
- Fatigue
- Stomach pain
- Headache
- Shortness of breath
- Trouble swallowing
- Erectile dysfunction
The good news is there are treatments available to help you manage these symptoms of PNH. They include:
- Blood transfusions, to increase levels of red blood cells.
- Vitamin and mineral supplements such as iron, vitamin B12, and folic acid to boost production of red blood cells.
- Erythropoietin, a growth factor that stimulates your bone marrow to make more red blood cells to boost energy with less need for blood transfusions.
- Eculizumab (Soliris) and ravulizumab (Ultomiris), parts of a group of drugs called complement inhibitors that block your body from destroying red blood cells.
- Medicines to suppress the immune system such as antithymocyte globulin (ATG) and cyclosporine.
In the case of severe bone marrow failure, a bone marrow/stem cell transplant (BMT/SCT) may be an option.
Talk to your doctor about all these treatments. They may allow you to go back to work and otherwise resume life as it was before you first had PNH symptoms.
Potentially life-threatening complications. People with PNH are more likely to have blood clots. These can block blood flow and stop oxygen from getting to your body’s tissues. A blood clot may even cause a heart attack or stroke. Treatments are available to decrease the risk of blood clots in certain high-risk patients. Other very serious conditions include:
Pulmonary hypertension (PHT). Almost half of people with PNH have this condition, which is when the blood pressure of the lung arteries is elevated. It causes shortness of breath and trouble breathing, which hurts the heart. It can lead to blood clots and even heart failure.
High blood pressure. This is elevated blood pressure in the arteries. It can cause headaches and make you feel light-headed and dizzy, but often has no symptoms. Over time, it raises the risk of heart disease, stroke, and aortic aneurysm.
Anemia. It can worsen symptoms such as fatigue, as well as cause other symptoms such as heart palpitations, dizziness, and fainting.
Kidney disease. PNH can affect your kidney function. Many people with PNH have kidney disease. This can lead to kidney failure.
Increased risk of complications during pregnancy and surgery. It’s not recommended that you get pregnant if you have PNH. It carries risks for both you and your unborn child. Two-thirds of mothers and babies will have the following complications:
- Blood clots
- Preeclampsia, a life-threatening condition that raises blood pressure
- Premature birth
- Stillbirth
- Low birth weight
If you do decide to go ahead with pregnancy, it’s important that your obstetrician specializes in high-risk births. They will watch you closely and make sure that you get the care you need.
If you decide not to get pregnant, it’s important to choose an effective method of birth control and use it correctly and consistently. The safest methods for people with PNH are barrier methods such as condoms. If you want to use birth control pills, your doctor will prescribe one that only has the hormone progesterone. Pills that contain estrogen raise your chances of getting a blood clot.
PNH is not an inherited disease, so there isn’t a risk that you’ll pass PNH on to your baby.
Surgery is also risky if you have PNH. It raises the chances that you will get a blood clot and can cause serious bleeding if your platelet count is low. You may need a platelet transfusion before surgery. Make sure that your PNH specialist speaks with your surgeon before the procedure. You may also need to take a blood thinner after surgery.
Riskier travel. If you have PNH, there may be challenges associated with flying or traveling to high altitudes. There’s less oxygen if you are up in an airplane or at a place with a high elevation. This can be an issue if you have anemia, which is a common complication of PNH. You may still be able to fly, but your doctor may want to check your red blood cell count and make sure your anemia is under control beforehand. You’ll also need to stay well-hydrated and get up and walk around every hour or two during your flight.
It’s also important to check your health insurance, to make sure it covers you in case you need emergency care during your travels. If it doesn’t, you may want to consider travel insurance.
Work difficulties. You may have fatigue that makes it hard to do your job. It’s important to be up-front with your employer about the challenges that you face with the condition. You may need to work from home, cut back your hours, or leave work early once or twice a month for your infusions. Your health care team can provide documentation of your PNH and what accommodations you may need during treatment.
If your symptoms are severe enough, you may be offered protection under the Americans with Disabilities Act. This requires your employer to provide reasonable accommodations so that you can continue your job.
Relationship strain. PNH can leave you anxious and stressed, as well as exhausted. These emotions all can make it harder for you to maintain relationships with family and friends.
In addition, PNH can cause sexual problems. If you are male, you may find it hard to maintain an erection. Both men and women may also feel so tired that they have no interest in sex. It’s important to be open with loved ones about all your feelings. They can help you manage your priorities so that you focus your time and energy on things that are most important – and most enjoyable – for you. You may also benefit from professional counseling.
Your medical team can help you navigate many of the challenges that come with PNH. They can work with you to come up with a treatment plan to help manage your symptoms and side effects from various therapies and medications. This way, you’ll be able to navigate life with PNH head-on.
