Table of ContentsView AllTable of ContentsTypes of PNHSymptomsCausesDiagnosisTreatmentPrognosisPrecautions
Table of ContentsView All
View All
Table of Contents
Types of PNH
Symptoms
Causes
Diagnosis
Treatment
Prognosis
Precautions
Paroxysmal nocturnal hemoglobinuria(PNH) is an acquired, potentially life-threatening disorder. It causes the red blood cells to break apart, a process calledhemolysis. This releases hemoglobin from the red blood cells into the urine, which turns dark or blood-colored.
At first, the disease was thought to occur in bursts called paroxysms, and only at night. It was later discovered that the hemolysis is a constant process and it happens in the day as well.
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People with PNH are at risk for thrombosis, orblood clotsthat develop in the veins. They also are at risk for bone marrow problems that lead to low production of all types of blood cells, which is known as deficienthematopoiesis.
Not everyone with PNH will see these effects to the same degree, or have the same symptoms—of which there are many.Blood tests are the main way that PNH is diagnosed. It can be managed with medications and blood transfusions, but the only potential cure for PNH is abone marrow transplant.
This article offers an overview of PNH, including symptoms and possible causes. It also explains how PNH is diagnosed and treated, as well as complications that arise for people with PNH.
An earlier name for PNH was Marchiafava-Micheli syndrome.
PNH affects people of all sexes and ethnic backgrounds. It can occur at any age, but most people are diagnosed while they are in their 30s.
PNH has three main types. They are:
Symptoms of PNH correspond to the three main concerns of the disease discussed earlier: hemolysis, thrombosis, and deficient hematopoiesis. They each cause a different pattern of symptoms.
Hemolysis
Thrombosis
Symptoms of thrombosis depend on where the blood clot occurs. If the clot is located in a vein of the liver, for example,jaundiceand/or an enlarged liver may occur. A clot in the abdomen would cause pain in that area, while a blood clot in the head may bring on a headache or dizziness. Clots in the skin cause raised, painful, red lumps over large areas, such as the back.
Deficient Hematopoiesis
The change occurs randomly in a single stem cell, which then multiplies and expands, causing the disease. The reason PNH cells expand and multiply is not fully known. One likely cause is an autoimmune response that leads to bone marrow failure.
PNH will occur in most people diagnosed with acquiredaplastic anemia. This is a serious disease in which bone marrow fails to make enough red blood cells, white blood cells, and platelets.
More than 10 out of every 100 people with aplastic anemia will develop PNH. On average, two out of 100 people with PNH go on to develop amyelodysplastic syndrome(MDS), which may advance to become leukemia.
Diagnosing PNH can be hard because it is a rare disease with symptoms that overlap with other bone marrow disorders. For this reason, the process will involve several types of tests.
Blood Tests
Flow Cytometry
Aflow cytometrytest is considered the gold standard for diagnosing PNH. This blood test can separate and analyze various components of blood. It reveals whether two key proteins, CD55 and CD59, are missing from the surface of blood cells.
Bone Marrow Test
In abone marrow test, a hollow needle is used to remove liquid bone marrow from the pelvic bone. The sample is examined under a microscope to look at how well the marrow is producing blood cells.
How Paroxysmal Nocturnal Hemoglobinuria Is Diagnosed
Treatments for PNH cannot cure the disorder. Theymanage the diseaseand/or treat specific symptoms. These treatments include:
The only potential cure for PNH is abone marrow transplant, in which stem cells are removed from the bone marrow and replaced with healthy bone marrow from a donor. Bone marrow transplants are serious and risky procedures. They are only recommended for people with severe PNH disease that causes repeated blood clots.
How Is Paroxysmal Nocturnal Hemoglobinuria Treated?
The course and severity of PNH varies. People with a mild case are likely to have a normal lifespan. Those with PNH alongside aplastic anemia or MDS may have a shorter lifespan.
Blood clots are the main cause of severe complications and death in people with PNH.
Living with PNH requires taking certain precautions. Some things to consider include:
Air Travel and High Altitudes
The farther you get from sea level—on a mountain, for example, or while flying in an airplane—the less oxygen there is. If you have anemia, this shortage can cause chest pain and fatigue.
Vaccinations
There have been reports of PNH patients having bad reactions to flu shots, so it’s important to talk to your healthcare provider about the risks and benefits of the vaccine.Your healthcare provider also may discuss any other vaccinations that you should have, and any PNH-related concerns.
Pregnancy
Surgery
Surgery can increase your risk of blood clots and cause serious bleeding if you have PNH. Your healthcare provider may want you to have a platelet transfusion prior to surgery, and then a blood thinner to take after the procedure.
Summary
Although PNH is rare, it is a serious chronic disease. It puts people at risk of blood clots, severe anemia, and bone marrow disorders—including leukemia—that can be life-threatening. Symptoms may differ, and there are many steps in diagnosing and treating PNH, but a bone marrow transplant remains the only potential cure.
A Word From Verywell
A diagnosis of PNH can be frightening, but there are more treatments than ever before. They are increasing life expectancy, and research on the disease continues. If you are interested, the National Organization for Rare Diseases can provide information on participating in aclinical trial.
Coping with PNH may take an emotional toll as well as a physical one. Resources like those from theAAMDS Foundationcan help you find specialists, support groups, financial help, and more.
7 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Mohammed AA, El-Tanni H, Atiah TA, et al.Paroxysmal nocturnal hemoglobinuria: from bench to bed.Indian J Hematol Blood Transfus. 2016;32(4):383–391. doi:10.1007/s12288-016-0654-2National Organization for Rare Disorders (NORD).Paroxysmal Nocturnal Hemoglobinuria.DeZern AE, Brodsky RA.Paroxysmal nocturnal hemoglobinuria: a complement-mediated hemolytic anemia.Hematol Oncol Clin North Am. 2015;29(3):479–494. doi:10.1016/j.hoc.2015.01.005Aplastic Anemia and MDS International Foundation.PNH Symptoms.The Aplastic Anemia and MDS International Foundation.Paroxysmal Nocturnal Hemoglobinuria.The Aplastic Anemia and MDS International Foundation. PNH—Paroxysmal Nocturnal Hemogloburinaria.Aplastic Anemia and MDS International Foundation.Special precautions for PNH patients.
7 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Mohammed AA, El-Tanni H, Atiah TA, et al.Paroxysmal nocturnal hemoglobinuria: from bench to bed.Indian J Hematol Blood Transfus. 2016;32(4):383–391. doi:10.1007/s12288-016-0654-2National Organization for Rare Disorders (NORD).Paroxysmal Nocturnal Hemoglobinuria.DeZern AE, Brodsky RA.Paroxysmal nocturnal hemoglobinuria: a complement-mediated hemolytic anemia.Hematol Oncol Clin North Am. 2015;29(3):479–494. doi:10.1016/j.hoc.2015.01.005Aplastic Anemia and MDS International Foundation.PNH Symptoms.The Aplastic Anemia and MDS International Foundation.Paroxysmal Nocturnal Hemoglobinuria.The Aplastic Anemia and MDS International Foundation. PNH—Paroxysmal Nocturnal Hemogloburinaria.Aplastic Anemia and MDS International Foundation.Special precautions for PNH patients.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Mohammed AA, El-Tanni H, Atiah TA, et al.Paroxysmal nocturnal hemoglobinuria: from bench to bed.Indian J Hematol Blood Transfus. 2016;32(4):383–391. doi:10.1007/s12288-016-0654-2National Organization for Rare Disorders (NORD).Paroxysmal Nocturnal Hemoglobinuria.DeZern AE, Brodsky RA.Paroxysmal nocturnal hemoglobinuria: a complement-mediated hemolytic anemia.Hematol Oncol Clin North Am. 2015;29(3):479–494. doi:10.1016/j.hoc.2015.01.005Aplastic Anemia and MDS International Foundation.PNH Symptoms.The Aplastic Anemia and MDS International Foundation.Paroxysmal Nocturnal Hemoglobinuria.The Aplastic Anemia and MDS International Foundation. PNH—Paroxysmal Nocturnal Hemogloburinaria.Aplastic Anemia and MDS International Foundation.Special precautions for PNH patients.
Mohammed AA, El-Tanni H, Atiah TA, et al.Paroxysmal nocturnal hemoglobinuria: from bench to bed.Indian J Hematol Blood Transfus. 2016;32(4):383–391. doi:10.1007/s12288-016-0654-2
National Organization for Rare Disorders (NORD).Paroxysmal Nocturnal Hemoglobinuria.
DeZern AE, Brodsky RA.Paroxysmal nocturnal hemoglobinuria: a complement-mediated hemolytic anemia.Hematol Oncol Clin North Am. 2015;29(3):479–494. doi:10.1016/j.hoc.2015.01.005
Aplastic Anemia and MDS International Foundation.PNH Symptoms.
The Aplastic Anemia and MDS International Foundation.Paroxysmal Nocturnal Hemoglobinuria.
The Aplastic Anemia and MDS International Foundation. PNH—Paroxysmal Nocturnal Hemogloburinaria.
Aplastic Anemia and MDS International Foundation.Special precautions for PNH patients.
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