Paroxysmal Nocturnal Hemoglobinuria [PNH] is an unpredictable and very serious disease that will destroy a person’s red blood cells. The disease is progressive and will increase a person’s risk of experiencing major health problems associated with PNH in the future. It is an acquired disease that increases the rate of hemolysis within the blood. The body’s immune system literally attacks red blood cells that do not contain protective proteins.
Some of the health conditions that are caused by PNH are life threatening. This includes chronic kidney disease, blot clots, and other blood-related conditions that develop over time. The PNH blood test will be ordered when the presence of this disease is suspected.
What Is the PNH Blood Test?
The PNH blood test will confirm if the disease is present. The results will either be positive or negative. The official name of this test is called the “high-sensitivity flow cytometry” test. What is does is measure the percentage of blood cells in the body that are affected by the disease. It will also be ordered to track the progression of the disease once a diagnosis has been confirmed.
What is the clone size?
Many medical providers will refer to the clone size when discussing the results of the PNH blood test. This term refers to the specific percentage of red blood cells that have been affected by the disease. Larger clone sizes basically mean a patient has more PNH red blood cells. Small clone sizes can still lead to PNH health problems, however, so any positive test typically requires ongoing medical care in some way.
What Are the Signs and Symptoms of PNH?
If someone has not been diagnosed with PNH in the past, then fatigue and pain are the two most common physical symptoms that are felt. Tiredness is common, as is difficulty in maintaining concentration. Some people find it difficult to perform their daily living activities, feel dizzy and weak, and generally prefer to remain in bed.
Pain with PNH is usually associated in the stomach and chest. Some people will also experience PNH pain in their back. Some individuals may experience a swelling of their legs and pain in their limbs as well.
These additional symptoms are also associated with PNH and may or may not be present with pain and fatigue.
- Urine that is unusually dark in color despite high levels of fluid intake.
- An unusual shortness of breath that is persistent, yet seemingly random.
- A yellowing of the skin and sometimes the eyes.
- Difficulty swallowing food or fluids.
If left untreated, these symptoms will progress to organ damage of the lungs and liver, potentially cause a stroke, and even cause a heart attack. Many medical providers refer to PNH as an iceberg disease. Only a little bit can be seen above the surface, but what lies below the surface is big and it can hurt people the most – even though it can’t always be detected.
How Is PNH Treated?
The goal of PNH treatments is to decrease the amount of red blood cell destruction that is occurring while replacing vital elements of the blood so that health can be maintained. Bone marrow destruction is common with this disease, so stem cell transplantation, surgeries, and other treatments are part of a common treatment plan.
Another common treatment is to reduce the immune response of the body in general so that lower levels of red blood cell destruction take place. A treatment options called Soliris is in current clinical trials and those who have been treated with it have had 86% less cell destruction through LDH blood tests. More importantly, treatment with Soliris has results in 92% fewer blood clots so that the most serious problem of this disease can be reduced.
Most people who have PNH will also be placed onto blood thinning medications like warfarin. Many treatments are administered by IV and they only need to be administered 2x per month after a 5 week course of weekly infusions.
Many people are treated through the use of blood transfusions when PNH is present as well. Modern treatments have reduced this need by over 70% in some instances, so there is a lot of hope on the horizon to conquer this disease once and for all.
The PNH blood test is a simple test that doctors order when they suspect the disease. If the results are positive, then there is a high likelihood that PNH is present. If the results are negative, then a medical provider may order additional tests to determine if another disease or condition is causing the bothersome symptoms.