Is Paroxysmal Nocturnal Hemoglobinuria (PNH)?
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disorder that
causes red blood cells to break down sooner than they should. This early
destruction can lead to symptoms and complications that range from minimal, such
as discoloration of urine, to severe, such as leukemia and stroke. There are no
known risk factors for PNH. This condition involves a gene called PIGA, but it’s
not a disease you can inherit from your parents. The disease is acquired
through genetic mutations that occur throughout your life.
PNH occurs when mutations lead to the loss of the PIGA gene. The
mutations happen in what are called “hematopoietic stem cells.” These are cells in your bone marrow that
lead to the production of blood cells. If you’ve developed a mutation, then you’ll
create abnormal blood cells.
The loss of the PIGA gene means that you lack a protective
protein layer on the outside of your red blood cells.
In normal cells, this layer of protein signals to your immune
system that the red blood cells aren’t foreign and shouldn’t be destroyed. When
you lack these proteins, your immune system breaks apart your red blood cells.
If you have PNH, you may have less blood platelets, which are responsible for
blood clotting. It’s also likely your platelets will have impaired functioning.
Are the Symptoms of Paroxysmal Nocturnal Hemoglobinuria?
The primary symptom of PNH is discolored urine. Prematurely
destroyed red blood cells lead to the release of hemoglobin into your urine. Hemoglobin is what makes your blood
red. You can usually see the discoloration at night or early in the morning, after
urine has accumulated in your bladder. Some people with PNH, however, won’t see
a discoloration. Hemoglobin may be present in your urine at levels that aren’t visible
just by looking at the urine.
Other symptoms of having PNH include:
- back pain
- a headache
- shortness of breath
- abdominal pain
- bruising easily
A very serious possible complication of PNH is the formation of
blood clots. Your platelets are involved in the clotting of your blood, and PNH
can decrease or impair your platelets. The symptoms of PNH can vary widely from
one person to another. Some people will only have very mild symptoms, while
others may experience severe and life-threatening complications.
Is Paroxysmal Nocturnal Hemoglobinuria Diagnosed?
To diagnose PNH, your doctor will consider your symptoms. The
discoloration of urine, unexplained blood clots, and anemia are major clues. You’ll
likely need more tests to confirm the presence of the disease.
There are several tests that can confirm the disease, but the
best current test is a flow
cytometry analysis of red blood cells. The test is very sensitive
and can detect the absence of the protein layer on red blood cells. To have the
test, you simply need to have a small sample of blood drawn.
Are the Treatment Options for Paroxysmal Nocturnal Hemoglobinuria?
Treatment options for PNH vary depending on the symptoms you
experience and their severity. For most people, treating the symptoms can
successfully manage PNH. Medications that treat anemia minimize the breakdown
of blood cells and reduce the risk of blood clot formation. Blood transfusions
may be necessary to increase the red blood cell count.
You may require steroids to suppress your immune system as part
of the disease management. In this event, your doctor may recommend vaccines to
keep you safe from infections. You may also need blood transfusions to keep
your blood cell levels normal.
A drug called eculizumab can be very effective in some patients.
It stops the breakdown of the red blood cells and may replace the need for
Complications Are Associated with Paroxysmal Nocturnal Hemoglobinuria?
The lack of the PIGA gene can lead to a host of illnesses and
complications that range from minor to life-threatening.
Anemia occurs when you have too few red blood cells. It’s very
common with PNH. There can be various causes, but in the case of PNH, it occurs
because of the premature destruction of blood cells. The symptoms include:
- pale skin
- shortness of breath
Acute Myeloid Leukemia
Less commonly, PNH can lead to acute myeloid leukemia. The
- bleeding gums
- a fever
- shortness of breath
- weight loss
- skin rashes
- bone pain
The most serious possible complication, although not as common as
anemia, is the formation of blood clots. This complication is known as thrombosis. Clots cause pain and
soreness where they form in the body. They can also move throughout the body.
Blood clots in the lungs, brain, or near the heart can result in stroke and
Is the Long-Term Outlook?
The outlook for someone with PNH varies depending on the severity
of the illness. In very few cases, the abnormal blood cells will decrease over
time. In most cases, however, treatment is necessary to manage the disease. Most
people live 10
years or more after the initial diagnosis.