Paroxysmal nocturnal hemoglobinuria (PNH)is a rare disorder that can appear with “red flag” symptoms like dark-colored urine and others that are much less noticeable. It can be hard to diagnose PNH because it is rare.
This article will provide an overview of symptoms that may warrant testing for PNH, and what to expect from your doctor during the process of being diagnosed with the condition.
Westend61 / Getty
What Is Paroxysmal Nocturnal Hemoglobinuria?
Self-Checks/At-Home Testing
What Does PNH Look Like?
Paroxysmal nocturnal hemoglobinuria (PNH) is a condition that can have symptoms such as weakness and fatigue. You might not know that you feel this way due to PNH because, often, there are processes happening in your body that you are not aware of or able to feel.
With PNH, your blood cells are lacking some of the proteins that protect them from destruction. Your red and white blood cells might be damaged or destroyed faster than they can be replaced. There are many blood cells in your body, which means that this process can happen for some time without you noticing.
Physical Examination
If you are experiencing symptoms that do not go away with rest or lifestyle changes, call your doctor and make an appointment.
Several physical symptoms can develop with PNH, but many of them are also common in other conditions.
Your doctor will do a physical examination and assess you for certain symptoms that could indicate that you have PNH, including:
Labs and Tests
Your doctor will need to perform a series of blood tests to make a formal diagnosis of PNH. A blood test calledflow cytometryis considered the gold standard for diagnosing PNH.
The test allows your healthcare team to examine a large number of cells all at once. It’s particularly useful for examining and classifying different types of blood cells.
What Is Flow Cytometry Used For?
Other test results that can be used to diagnose PNH include:
Most of these tests require a small amount of blood. Theblood collectionis done in a laboratory or healthcare facility using a small needle inserted into your arm.
Imaging
Imaging tests are not typically used to diagnose PNH. However, X-rays, computed tomography (CT) scans, and magnetic resonance imaging (MRI) can be used to rule out other conditions that could be causing your symptoms or to check for complications of PNH.
Imaging tests can help diagnose some complications of PNH, including:
Differential Diagnoses
Many symptoms of PNH also occur in other conditions. Therefore, your healthcare team will need to rule out other conditions that could be causing your symptoms through a process called a differential diagnosis.
Typical differential diagnoses for PNH include:
What Are Blood Dyscrasias?
Summary
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare condition involving the blood cells that can share symptoms with a number of other conditions. It’s not passed through families. The diagnosis relies on clinical assessments and laboratory testing. You may need to have many tests performed—or even seek out a second opinion—before you get a diagnosis.
A Word From Verywell
If you have symptoms of PNH, schedule an appointment with your doctor. While you have about a one in a million chance of developing PNH, the only way to rule it out is to have tests.
There are no accurate home tests or screening tests for the condition. A diagnosis is usually made using blood testing and your doctor’s differential diagnosis to rule out other possible conditions to explain your symptoms.
Frequently Asked QuestionsNo. There are no home tests that can be used to diagnose PNH. If you think you have PNH, you should call your doctor to set up an appointment.Some symptoms of PNH can be noticeable, like fatigue or shortness of breath. However, these symptoms also occur in many other conditions. Blood testing is the best way to get an accurate diagnosis of PNH.Learn MoreWhat Are Blood Dyscrasias?You usually will not need imaging tests for a diagnosis of PNH; however, these tests can be done to rule out other conditions or complications of PNH like blood clots.
Frequently Asked Questions
No. There are no home tests that can be used to diagnose PNH. If you think you have PNH, you should call your doctor to set up an appointment.
Some symptoms of PNH can be noticeable, like fatigue or shortness of breath. However, these symptoms also occur in many other conditions. Blood testing is the best way to get an accurate diagnosis of PNH.Learn MoreWhat Are Blood Dyscrasias?
Some symptoms of PNH can be noticeable, like fatigue or shortness of breath. However, these symptoms also occur in many other conditions. Blood testing is the best way to get an accurate diagnosis of PNH.
Learn MoreWhat Are Blood Dyscrasias?
You usually will not need imaging tests for a diagnosis of PNH; however, these tests can be done to rule out other conditions or complications of PNH like blood clots.
How Are Blood Clots Diagnosed?
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.Peacock-Young B, Macrae FL, Newton DJ, et al.The prothrombotic state in paroxysmal nocturnal hemoglobinuria: A multifaceted source.Haematologica. January 2018;103(1). doi:10.3324/haematol.2017.177618Cançado RD, da Silva A, Araújo, Freire Sandes A, et al.Consensus statement for diagnosis and treatment of paroxysmal nocturnal haemoglobinuria.Hematol. Transfus. Cell Ther.September 2021;43(3):341-348. doi:10.1016/j.htct.2020.06.006National Organization for Rare Disorders.Paroxysmal nocturnal hemoglobinuria. Updated 2019.National Institutes of Medicine.Paroxysmal nocturnal hemoglobinuria. Updated April 7, 2021.Johns Hopkins Medicine.Paroxysmal nocturnal hemoglobinuria (PNH).Brodsky R.Paroxysmal nocturnal hemoglobinuria without GPI-anchor deficiency.J. Clin. Invest.October 2019;129(12):5074-5076. doi:10.1172/JCI131647The Aplastic Anemia and MDS Association.PNH: Paroxysmal nocturnal hemoglobinuria.
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.Peacock-Young B, Macrae FL, Newton DJ, et al.The prothrombotic state in paroxysmal nocturnal hemoglobinuria: A multifaceted source.Haematologica. January 2018;103(1). doi:10.3324/haematol.2017.177618Cançado RD, da Silva A, Araújo, Freire Sandes A, et al.Consensus statement for diagnosis and treatment of paroxysmal nocturnal haemoglobinuria.Hematol. Transfus. Cell Ther.September 2021;43(3):341-348. doi:10.1016/j.htct.2020.06.006National Organization for Rare Disorders.Paroxysmal nocturnal hemoglobinuria. Updated 2019.National Institutes of Medicine.Paroxysmal nocturnal hemoglobinuria. Updated April 7, 2021.Johns Hopkins Medicine.Paroxysmal nocturnal hemoglobinuria (PNH).Brodsky R.Paroxysmal nocturnal hemoglobinuria without GPI-anchor deficiency.J. Clin. Invest.October 2019;129(12):5074-5076. doi:10.1172/JCI131647The Aplastic Anemia and MDS Association.PNH: Paroxysmal nocturnal hemoglobinuria.
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.
Peacock-Young B, Macrae FL, Newton DJ, et al.The prothrombotic state in paroxysmal nocturnal hemoglobinuria: A multifaceted source.Haematologica. January 2018;103(1). doi:10.3324/haematol.2017.177618Cançado RD, da Silva A, Araújo, Freire Sandes A, et al.Consensus statement for diagnosis and treatment of paroxysmal nocturnal haemoglobinuria.Hematol. Transfus. Cell Ther.September 2021;43(3):341-348. doi:10.1016/j.htct.2020.06.006National Organization for Rare Disorders.Paroxysmal nocturnal hemoglobinuria. Updated 2019.National Institutes of Medicine.Paroxysmal nocturnal hemoglobinuria. Updated April 7, 2021.Johns Hopkins Medicine.Paroxysmal nocturnal hemoglobinuria (PNH).Brodsky R.Paroxysmal nocturnal hemoglobinuria without GPI-anchor deficiency.J. Clin. Invest.October 2019;129(12):5074-5076. doi:10.1172/JCI131647The Aplastic Anemia and MDS Association.PNH: Paroxysmal nocturnal hemoglobinuria.
Peacock-Young B, Macrae FL, Newton DJ, et al.The prothrombotic state in paroxysmal nocturnal hemoglobinuria: A multifaceted source.Haematologica. January 2018;103(1). doi:10.3324/haematol.2017.177618
Cançado RD, da Silva A, Araújo, Freire Sandes A, et al.Consensus statement for diagnosis and treatment of paroxysmal nocturnal haemoglobinuria.Hematol. Transfus. Cell Ther.September 2021;43(3):341-348. doi:10.1016/j.htct.2020.06.006
National Organization for Rare Disorders.Paroxysmal nocturnal hemoglobinuria. Updated 2019.
National Institutes of Medicine.Paroxysmal nocturnal hemoglobinuria. Updated April 7, 2021.
Johns Hopkins Medicine.Paroxysmal nocturnal hemoglobinuria (PNH).
Brodsky R.Paroxysmal nocturnal hemoglobinuria without GPI-anchor deficiency.J. Clin. Invest.October 2019;129(12):5074-5076. doi:10.1172/JCI131647
The Aplastic Anemia and MDS Association.PNH: Paroxysmal nocturnal hemoglobinuria.
Meet Our Medical Expert Board
Share Feedback
Was this page helpful?Thanks for your feedback!What is your feedback?OtherHelpfulReport an ErrorSubmit
Was this page helpful?
Thanks for your feedback!
What is your feedback?OtherHelpfulReport an ErrorSubmit
What is your feedback?
