Understanding PNH
Understanding PNH
The basics of PNH
Understanding PNH
The basics of PNH
Paroxysmal nocturnal hemoglobinuria, or PNH, is a rare blood disease in which the body’s immune systemimmune systemA sophisticated defense network used to protect the body from dangers like disease and infection. attacks and destroys its own red blood cells in a process called hemolysis. Red blood cells carry an important molecule, hemoglobinhemoglobinThe critical protein found inside red blood cells that enables other cells throughout the body to get the oxygen they need. Hemoglobin acts like drops of glue that can “stick” to oxygen and carry it from the lungs to other tissues. It can also “stick” to waste like carbon dioxide to help remove it from the body., around the body.
Understanding PNH
The basics of PNH
Paroxysmal nocturnal hemoglobinuria, or PNH, is a rare blood disease in which the body’s immune systemimmune systemA sophisticated defense network used to protect the body from dangers like disease and infection. attacks and destroys its own red blood cells in a process called hemolysis. Red blood cells carry an important molecule, hemoglobinhemoglobinThe critical protein found inside red blood cells that enables other cells throughout the body to get the oxygen they need. Hemoglobin acts like drops of glue that can “stick” to oxygen and carry it from the lungs to other tissues. It can also “stick” to waste like carbon dioxide to help remove it from the body., around the body.
What causes PNH?
No one is born with PNH. PNH is “acquired,” which means the genetic mutations responsible for the disease happen during your life. PNH is not something that is contagious, so you can’t give it to anyone else. PNH is closely related to aplastic anemiaaplastic anemiaA rare blood disease that is a known risk factor for PNH. Aplastic anemia occurs when a person’s bone marrow does not make enough new blood cells. Some scientists believe that aplastic anemia weakens the body’s bone marrow, which then affects its ability to produce healthy red blood cells. People with PNH can share symptoms with those that have aplastic anemia, such as low blood cell counts., an autoimmune disease in which the body cannot produce all types of blood cells in sufficient numbers, causing fatigue, infections, bruising and bleeding. Approximately 44% of patients diagnosed with PNH have a history of aplastic anemia.
What are the symptoms?
The symptoms of PNH can vary widely from person to person. Some people have mild symptoms that can be more easily managed. Others have severe symptoms and may need frequent blood transfusionsblood transfusionA medical procedure in which blood from a donor is given to another person through an intravenous (IV) line – a narrow tube placed within a vein (typically in the arm).. The most common symptoms are fatigue, headaches and shortness of breath. Individuals who have both Aplastic Anemia (AA) and PNH may have additional symptoms. To learn more about the symptoms of AA, visit the AAMDS website.
How can you get diagnosed?
PNH can be difficult to diagnose, in part because it’s rare, but also because the symptoms of PNH are similar to those of other illnesses. Blood tests are used to confirm a diagnosis. There are many different tests a doctor may use, each of which helps provide a clue that it may be PNH. One of the most common tests uses a process called flow cytometryflow cytometryThe most common method of testing for PNH, this test confirms whether red blood cells are missing their protective shield. It also calculates the percentage of blood cells impacted by PNH, which is referred to as your clone size. A large clone size means you have a high percentage of blood cells that can be attacked by the complement system, which may lead to more severe symptoms..
Is there a cure?
Some people have had success with a bone marrow transplant or hematopoietic stem cell transplant, which replaces unhealthy stem cells with healthy ones. This may cure their PNH. There are also treatments that can help prevent red blood cells from being destroyed. Ongoing scientific research is working to better understand the disease and control the destruction of red blood cells.
I have PNH. What next?
While PNH is rare, there is an active and supportive community here to help. Take a look at our resource center to find advocacy organizations, strategies to navigate the everyday and ways to connect with others who have PNH.
PNH by the numbers
First reported in medical
journals in the late
1800s
Affects ~1 out of every million people each year
~400-500
new cases
are diagnosed in the U.S.
each year
Impacts both
men +
women
of every ethnicity
Diagnosis can take up to
5
years
Many individuals may see more than
5
physicians before getting
diagnosed
Most often
diagnosed at
30-40
years of age
Approximately
44%
of patients diagnosed with PNH
have a history of aplastic anemia
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“Find out who in your circle will respond with true, genuine empathy, and reassign the roles of the people in your life who don’t. Life is too short to live it without hope and joy, so don’t invite anyone in who intends to steal that from you.”
– Emily, living with PNH
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“I think it’s important to focus on the things we still CAN do instead of solely thinking about the negatives. I also think it’s important to keep as much normalcy in our lives as we can ... continue to do the things you value most, if possible.”
– Leslie, living with PNH
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“Ask questions! To your doctor, your support group!”
– Margarita, living with PNH
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“Everyone’s experience is unique. It’s important to find joy in your everyday.”
– Amanda, living with PNH
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“It helps to be a part of something. Either a social network of friends, a church group or a PNH support group. I find my resiliency through others who have forged this road before me.”
– Jessi, living with PNH
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“Don’t be afraid to open up and share your story; it helps!”
– Brianne, living with PNH
Did you know?
The name PNH was based on early observations of people with the disease. PNH stands for Paroxysmal (meaning “sudden and irregular”) Nocturnal (“at night”) Hemoglobinuria (“hemoglobin in urine”). As understanding has advanced, we’ve learned this name can be misleading, as PNH impacts people at all times of the day, and not all people with PNH have dark-colored urine.