PNH and Your Quality of Life: Making a Treatment Plan With Your Doctor

This article is for people living with paroxysmal nocturnal hemoglobinuria (PNH) and their care partners, or anyone who wants to learn more about PNH. The goal of this activity is to help people talk to and work with their doctor about their quality of life and PNH.

You will learn about:

• PNH and what causes it

• PNH's effects on your body and its symptoms

• Making a treatment plan with your doctor

• PNH and your quality of life

• Questions to ask your doctor

Paroxysmal nocturnal hemoglobinuria -- or PNH -- is a rare blood condition where your red blood cells undergo hemolysis (get broken down).

PNH is caused by a mutation, or change, in your genes that determine your traits. This gene mutation causes your body to make red blood cells that are missing a protein on their surface that normally protects them.

You're not born with PNH. The gene mutation isn't inherited (passed on from your parents), but is acquired (happens on its own). And while you can develop PNH at any age, it's usually first found or diagnosed in your 30s and 40s.

With PNH, your bone marrow -- the spongy tissue inside your bones -- doesn't function properly, which results in abnormal stem cells. Stem cells are immature cells in your bone marrow that make blood cells.

These abnormal stem cells make red blood cells that are missing a protective protein on their surface. The unprotected red blood cells are vulnerable and can be accidentally broken down by a part of your immune system -- your body's natural defense system -- called the complement system.

When your red blood cells break apart, hemoglobin -- the substance inside them that carries oxygen -- gets released into your bloodstream.

PNH symptoms are mainly caused by destroyed red blood cells and the released hemoglobin, which can result in anemia and blood clots. With anemia, you don't have enough healthy red blood cells with hemoglobin to carry oxygen to your body. And destroyed blood cells can lead to blood clots forming in your veins.

With anemia, you don't have enough healthy red blood cells to carry the oxygen that your body needs.

PNH can be different for different people. Some may have minor or no symptoms, while for others, symptoms can be severe.

PNH symptoms can include:

• Fatigue (tiredness), weakness

• Headache

• Stomach pain

• Small red dots on your skin, bruising or bleeding easily, or trouble controlling bleeding

• Shortness of breath

• Infections, fever, and flu-like symptoms

• Dark tea-colored urine

If you get a blood clot, symptoms can depend on where in your body 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 pain in your chest

Be sure to talk to your doctor about what symptoms may occur with PNH and what they can look like, as well as when to call them or get emergency medical care.

PNH can be life-threatening, so getting proper care is important. You and your doctor will make a treatment plan together to manage PNH that best fits your individual needs. Be sure to share your personal preferences and goals with them.

Treatment is used to help control symptoms, prevent complications (additional problems), and improve your quality of life and may include:

• Medicines such as complement inhibitors to reduce hemolysis and blood thinners to lower your chances of blood clots

• Folic acid, iron supplements, or medicines to help you make more red blood cells

• Procedures such as a blood transfusion to help with anemia or a bone marrow transplant to replace your bone marrow stem cells

• Joining a clinical trial

Living with PNH can greatly impact your quality of life. Symptoms can affect your work and school, ability to do daily activities, relationships, and mental well-being.

Some topics you can discuss with your doctor regarding your quality of life can include:

• Ways to combat fatigue and cope with stress

• What to know before you travel, especially if you will be flying or visiting places at higher elevations than your body is used to

• Which vaccines you should get to help protect against infections

• What you should know about your and your baby's health if you're pregnant or planning to get pregnant

• What to do, or not do, before having surgery or a procedure

Maintaining a healthy lifestyle can also help you manage PNH and protect your quality of life.

Ways to do this include:

• Follow your treatment plan and take medicines as directed

• Tell your doctor about all medicines you take -- including those you get without a prescription -- as well as any herbals and supplements

• Keep your medical appointments for check-ups and blood tests

• Stay active and maintain a healthy weight

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

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

Questions you can ask your doctor and healthcare team about PNH can include:

• How can we manage symptoms and improve my quality of life?

• Are there any lifestyle changes I should make?

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

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

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

• Is there a support group I can join?

• Where can I find more information and resources?

You have successfully completed the program PNH and Your Quality of Life: Making a Treatment Plan With Your Doctor.

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

Paroxysmal Nocturnal Hemoglobinuria

PNH

PNH: Diagnosis and Treatment

Living With PNH