Everybody experiences PNH differently
About PNH
Signs and symptoms
There are many signs and symptoms of PNH, but you may not have them all.
Urinary or reproductive system
- Dark urine
- Erectile dysfunction
Circulatory system
- Anemia
- Yellowing of the skin and eyes (jaundice)
Nervous system
- Lack of mental clarity
- Difficulty dealing with daily tasks and situations
- Fatigue
- Forgetfulness, difficulty concentrating
- Insomnia
- Headaches
- Dizziness
Digestive system
- Abdominal pain
- Discomfort or difficulty with swallowing (dysphagia)
- Loss of appetite
- Nausea
Respiratory system
- Shortness of breath
The complications of PNH can be serious
Complications of PNH are not the same as symptoms of PNH.
A complication is when PNH causes a different event that needs immediate medical attention.
Possible complications include:
- Thrombosis (blood clots in a vein)
- Kidney disease or failure
- Heart attack
- Stroke
- Budd-Chiari Syndrome (a clot or clots in the hepatic vein of the liver), which may lead to liver failure
Seek medical advice immediately if you experience symptoms related to these complications, including swelling in the limbs or abdomen and severe and/or sudden onset of pain.
The path to a PNH diagnosis
PNH can be difficult to diagnose because many of the symptoms overlap with other, more common conditions. Being so rare, PNH may not be the first diagnosis that a doctor considers, but once PNH is suspected, there are standard tests that can confirm the diagnosis, as well as determine its severity. Additionally, there are tests that can be used to rule out complications of PNH.
Flow cytometry
This test is the gold standard for diagnosing PNH – it involves examining a sample of blood to determine the amount and characteristics of different blood cells, as well as your PNH clone size.Lactate dehydrogenase (LDH)
LDH levels in your blood indicate the rate of hemolysis in your body. If you’re receiving treatment for your PNH, this test can also be used to keep track of how well you are responding to it.Complete blood count (CBC)
This test examines various components of the blood, including red blood cells, white blood cells, and platelets. The red blood cells may also be assessed by measuring hemoglobin, where low hemoglobin results in anemia. The CBC can also be used to evaluate how well the bone marrow is working. Normal values for each of these are listed below.| Blood component | Normal value |
|---|---|
| White blood cell (WBC) count | 3.5–10.5 × 109/L |
| Platelets | 130–380 × 109/L |
| Hemoglobin | |
| Female | 115 to 150 g/L |
| Male | 125 to 170 g/L |
Hemoglobin levels
Measuring hemoglobin levels is another way to monitor anemia. Normal hemoglobin levels vary and depend on numerous factors including age, sex at birth, altitude of residence and even how the blood sample was collected (from the vein or a finger prick). The normal range for hemoglobin in females is 115 to 150 g/L and in males it is 125 to 170 g/L.Indirect or Unconjugated Bilirubin
This test is used to track the amount of unconjugated bilirubin in your blood. Bilirubin is a yellow pigment released when red blood cells break down. It can cause jaundice when present in high concentrations.Reticulocyte count
This test is used to measure the number of reticulocytes, also known as young red blood cells, present in your blood. Reticulocytes are normally released from the bone marrow and into the blood when mature red blood cells are broken down. The reticulocyte count may be higher in people who are not receiving treatment due to the bone marrow's response to low hemoglobin.Bone marrow assessments
Bone marrow tests can also be used to support a PNH diagnosis and provide more information about your bone marrow's ability to produce blood cells.
Take your Doctor Discussion Guide with you!
Download this guide here and keep it handy during doctor appointments to help you talk about your symptoms, clarify any questions you have or jot important notes.
Related topics
Treatment Options
Discover how PNH treatments work to reduce red blood cell destruction and improve daily living.
Patient Organizations for PNH
Connect with national and local groups for peer support, advocacy, and resources.
Find a PNH Specialist near you
Search by province or territory to locate clinics and specialists experienced in PNH.