What 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.
Symptoms
What 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.
Diagnosis
How 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.
Treatments
What 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 blood transfusions.
Complications
What 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
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:
- fatigue
- weakness
- headaches
- lightheadedness
- pale skin
- shortness of breath
Acute Myeloid Leukemia
Less commonly, PNH can lead to acute myeloid leukemia. The symptoms include:
- bleeding gums
- bruising
- a fever
- shortness of breath
- weight loss
- skin rashes
- bone pain
- fatigue
Thrombosis
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 death.
Outlook
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