Understanding Paroxysmal Nocturnal Hemoglobinuria (PNH): Symptoms, Causes, and Treatment Options

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare blood disease that occurs when your immune system attacks and breaks down your red blood cells. This condition can affect people of any age and can be life-threatening if left untreated. However, with proper management and care, individuals with PNH can lead fulfilling lives.

Causes of PNH

PNH is caused by a genetic mutation (the PIGA gene) that leads to the production of abnormal red blood cells. These cells lack certain protective proteins, making them vulnerable to attack by your immune system. The condition is not inherited from parents or passed down to children.

Symptoms of PNH

The most common symptom of PNH is dark or bright red blood in the urine, especially at night or in the morning. Other symptoms may include:

• Fatigue and weakness

• Headaches

• Shortness of breath

• Irregular heartbeat

• Abdominal pain

• Difficulty swallowing

• Pale or yellowish skin

• Easy bruising

• Erectile dysfunction in men

• Blood clots, especially in unusual locations like the brain or abdomen

• Bone marrow failure (anemia, thrombocytopenia, leukopenia)

PNH can also lead to blood clots, which can cause additional symptoms depending on their location:

• Skin: Red, painful, or swollen area

• Arm or leg: Sore, warm, and swollen limb

• Stomach: Pain, ulcers, and bleeding

• Brain: Severe headache, seizures, difficulty moving, talking, or seeing

• Lungs: Trouble breathing, sharp chest pain, coughing up blood, sweating

Diagnosing PNH

To diagnose PNH, your doctor will review your medical history, discuss your symptoms, and perform a physical examination. They may also order blood tests, such as a complete blood count and flow cytometry, to assess the presence of abnormal red blood cells. In some cases, a bone marrow sample may be required for further analysis.

Treatment Options for PNH

Treatment for PNH focuses on managing symptoms and preventing complications. Depending on the severity of your condition, your doctor may recommend:

• Folic acid and iron supplements to support red blood cell production

• Eculizumab (Soliris) or Ravulizumab (Ultomiris) to prevent red blood cell breakdown

• Pegcetacoplan (Empaveli) for those new to treatment or switching from other medications

• Blood transfusions to treat anemia

• Blood thinners to reduce the risk of blood clots

• Bone marrow stem cell transplant, in severe cases, to replace abnormal bone marrow

For more information on PNH and its management, consult the following resources:

• National Heart, Lung, and Blood Institute - Paroxysmal Nocturnal Hemoglobinuria

• National Organization for Rare Disorders - Paroxysmal Nocturnal Hemoglobinuria

• Aplastic Anemia and MDS International Foundation - Paroxysmal Nocturnal Hemoglobinuria

Living with PNH

If you have been diagnosed with PNH, it is essential to take care of yourself and work closely with your healthcare team. Adopt a healthy lifestyle, including a balanced diet and appropriate exercise, and protect yourself from infections. Seek emotional support from loved ones, counselors, or support groups to help you cope with the challenges of living with a rare blood disease.

Remember, with proper management and care, many people with PNH can lead full and active lives. Stay informed, communicate with your healthcare providers, and don't hesitate to reach out for support when needed.