Paroxysmal Nocturnal Hemoglobinuria (PNH)

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disease in which red blood cells break down earlier than normal. Persons with this disease have blood cells that are missing a gene called PIG-A. This gene allows a substance called glycosyl-phosphatidylinositol (GPI) to help certain proteins stick to cells. Without PIG-A, important proteins cannot connect to the cell surface and protect the cell from substances in the blood called complement. As a result, red blood cells break down too early. The red cells leak hemoglobin into the blood, which can pass into the urine. This can happen at any time, but is more likely to occur during the night or early morning. The disease can affect people of any age. It may be associated with aplastic anemia, myelodysplastic syndrome, or acute myelogenous leukemia. Risk factors, except for prior aplastic anemia, are not known. The outcome varies. Most people survive for more than 10 years after their diagnosis. Death can result from complications such as blood clot formation (thrombosis) or bleeding. In rare cases, the abnormal cells may decrease over time.

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder that leads to the premature death and impaired production of blood cells. It can occur at any age, but is usually diagnosed in young adulthood. People with PNH have recurring episodes of symptoms due to hemolysis, which may be triggered by stresses on the body such as infections or physical exertion. This results in a deficiency of various types of blood cells and can cause signs and symptoms such as fatigue, weakness, abnormally pale skin (pallor), shortness of breath, and an increased heart rate. People with PNH may also be prone to infections and abnormal blood clotting (thrombosis) or hemorrhage, and are at increased risk of developing leukemia. It is caused by acquired, rather than inherited, mutations in the PIGA gene; the condition is not passed down to children of affected individuals. Sometimes, people who have been treated for aplastic anemia may develop PNH.[1] The treatment of PNH is largely based on symptoms; stem cell transplantation is typically reserved for severe cases of PNH with aplastic anemia or those whose develop leukemia.[2]

Types of PNH

There is only one type of PNH, but it can vary in severity from person to person. Some people may have mild PNH, while others may experience more severe symptoms.

Causes of PNH

The main cause of PNH is a genetic mutation that affects a protein called PIG-A. This mutation makes your red blood cells more susceptible to destruction by your immune system.

Symptoms of PNH

PNH can cause a range of symptoms, including:

1. Fatigue: Feeling very tired is a common symptom.
2. Anemia: PNH can lead to low levels of red blood cells, causing anemia.
3. Dark Urine: Urine may appear dark due to the breakdown of red blood cells.
4. Abdominal Pain: Pain in the abdomen can occur.
5. Headache: Frequent headaches may be a symptom.
6. Shortness of Breath: Difficulty breathing can be a sign of anemia.
7. Pale Skin: Anemia can lead to pale skin.
8. Thrombosis: Blood clots may form in veins, causing pain and swelling.
9. Easy Bruising: You may bruise easily.
10. Jaundice: Yellowing of the skin and eyes due to liver involvement.
11. Difficulty Swallowing: Swallowing problems can arise if the throat is affected.
12. Erectile Dysfunction: Men may experience difficulties in sexual function.
13. Bone Pain: Pain in the bones is possible.
14. Frequent Infections: Your immune system may be weakened.
15. Nosebleeds: Nosebleeds can occur.
16. Dark Circles Under Eyes: These may appear due to fatigue.
17. Enlarged Spleen: Your spleen may become enlarged.
18. Joint Pain: Pain and swelling in the joints are possible.
19. Kidney Problems: PNH can affect kidney function.
20. Chest Pain: Chest pain may occur due to heart-related complications.

Diagnosis of PNH

To diagnose PNH, doctors use various tests and examinations, including:

1. Blood Tests: Checking for low red blood cell count, hemoglobin levels, and markers of PNH.
2. Bone Marrow Biopsy: Examining a small sample of bone marrow to look for PNH-affected cells.
3. Flow Cytometry: A specialized test to identify PNH cells in your blood.
4. Urine Tests: Checking for hemoglobin breakdown products in your urine.
5. Genetic Testing: Identifying the PIG-A gene mutation responsible for PNH.

Treatment of PNH

Treatment for PNH aims to manage symptoms, prevent complications, and improve overall quality of life. Here are some common treatments:

1. Blood Transfusions: To address anemia and maintain healthy hemoglobin levels.
2. Medications: Such as eculizumab (Soliris) to reduce red blood cell destruction.
3. Bone Marrow Transplant: In severe cases, a transplant may be considered.
4. Immunosuppressive Therapy: To suppress the immune system’s attack on red blood cells.
5. Anticoagulants: To prevent blood clots in veins.
6. Pain Management: For bone pain and other discomforts.
7. Supportive Care: Including nutrition and managing infections.

Medications for PNH

Several drugs can be used to manage PNH and its symptoms. Here are some of them:

1. Eculizumab (Soliris): Blocks the immune system from destroying red blood cells.
2. Ravulizumab (Ultomiris): Similar to eculizumab, but with a longer duration of action.
3. Iron Supplements: To address anemia.
4. Pain Relievers: Such as acetaminophen for pain management.
5. Anticoagulants: Like warfarin to prevent blood clots.
6. Immunosuppressive Drugs: To reduce the immune system’s activity.
7. Antibiotics: For treating and preventing infections.

Conclusion:

Paroxysmal Nocturnal Hemoglobinuria (PNH) is a complex condition, but understanding its basics can be crucial for those affected and their families. If you suspect you or someone you know has PNH, seek medical advice promptly. With advances in treatment, many people with PNH can lead fulfilling lives with proper care and management. Remember, knowledge is a powerful tool in managing this rare disorder.

 

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. Thank you for giving your valuable time to read the article.

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