PNH: What Are Your Treatment Options?

This article is for people who have paroxysmal nocturnal hemoglobinuria (PNH) and their care partners, or anyone who wants to learn more about PNH. The goal of this patient education activity is to help patients engage in shared decision-making with their doctor about different treatment options for PNH.

You will learn about:

• PNH and what causes it

• PNH's effects on your body and its symptoms

• Available treatment options

• Possible side effects of treatment

• Managing your PNH

• Questions to ask your doctor

Paroxysmal nocturnal hemoglobinuria, or PNH, is a rare blood disorder where red blood cells break apart ("hemolysis").

With PNH, red blood cells are missing a certain protein on their surface that normally protects them. These unprotected cells are vulnerable and can be accidentally broken down by your complement system, a part of your immune system (your body's natural defense system). When red blood cells break apart, hemoglobin -- the substance inside that carries oxygen -- gets released into your bloodstream. 

Close-up of red blood cells in your bloodstream.

PNH is caused by a gene mutation. Genes inside your cells carry information that determines traits (your features or characteristics). Abnormal changes in genes are called mutations.

The gene mutation in PNH causes your body to make red blood cells without their protective protein. This mutation is not inherited (passed on from your parents), but happens on its own ("acquired").

Anyone can get PNH and it can happen at any age. But it's usually first found, or diagnosed, when people are in their 30s and 40s.

PNH can cause anemia, a condition where there aren't enough healthy red blood cells containing hemoglobin to carry the oxygen your body needs. The destroyed blood cells in PNH can also lead to blood clots (thrombosis) in your veins.

Bone marrow -- the spongy tissue inside your bones -- that doesn't function properly also happens in PNH. Bone marrow contains stem cells that make your blood cells. The gene mutation in PNH takes place in bone marrow stem cells. The abnormal stem cells then make red blood cells without their protective protein.   

PNH affects everyone differently. Some people may have minor, or even no, symptoms. But for others, PNH may be much more severe and can even be life-threatening.

Symptoms are mainly caused by broken down red blood cells and the release of hemoglobin, anemia, and blood clots.

The most common symptoms include:

• Fatigue (tiredness) or weakness

• Bruising or bleeding easily, trouble controlling bleeding, or small red dots on your skin

• Shortness of breath

• Infections, fever, and flu-like symptoms

• Headache

• Stomach pain and ulcers

• Urine that is dark tea-colored

If you get a blood clot, the symptoms can depend on where the clot happens and may include:

• A red, sore, warm, or swollen area on your arm or leg

• Seizures or trouble moving, talking, or seeing

• Trouble breathing or sharp chest pain

If you think you have a blood clot, call your doctor right away. Call 911 if you have a sudden headache, chest pain, or a seizure; or any trouble breathing, moving, talking, or seeing.

Not all symptoms of PNH are listed in this activity. Be sure to talk to your doctor about what symptoms may happen.

Treatment is used to help control symptoms and prevent complications (additional problems). It can include medicines or supplements, procedures, or joining a clinical trial.

Medicines used to treat PNH include complement inhibitors -- such as eculizumab, ravulizumab, or pegcetacoplan -- to block (inhibit) your complement system and reduce the breakdown of red blood cells.

Your doctor may also recommend folic acid, iron supplements, or other medicines to help you make more red blood cells and hemoglobin, or blood thinners to lower the chances of blood clots.

Procedures your doctor may recommend can include blood transfusions to help with anemia, or a transplant to replace your bone marrow stem cells with those from someone with bone marrow that functions properly.

Depending on which medicine you're taking, some possible side effects can include:

• Headache

• Fatigue (tiredness)

• Pain or swelling in your nose or throat

• Back or abdominal (belly) pain

• Nausea

• Diarrhea

• Infections

Some people may get a reaction when getting certain medicines by infusion into a vein (IV).

All treatments can have side effects, and not all are listed here. Ask your doctor or pharmacist for a complete list.

Tracking your symptoms and maintaining a healthy lifestyle can help you manage your PNH and protect your quality of life.

Ways to do this include:

• Follow your treatment plan and take medicines as directed

• Track your symptoms and any side effects in a journal or diary

• Stay active and maintain a healthy weight

• Get enough sleep -- 7 to 8 hours a night

• Protect yourself against infections

• Keep your appointments for check-ups and blood tests, and get any vaccinations your doctor recommends

• Develop coping strategies to reduce stress

Questions you can ask your doctor about PNH can include:

• What can I do to help manage symptoms and improve my quality of life?

• Are there any specialists I should see?

• What treatments are available, and what are their side effects?

• Are there any lifestyle changes I should make?

• Is there a clinical trial I may be eligible for?

• What should I do if I start to feel stressed or depressed?

Congratulations!

Congratulations! You have successfully completed the program PNH: What Are Your Treatment Options?

View Additional Materials on this topic that you may find useful:

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