What is Nocturnal Hemoglobinuria?

PNH is a condition in which red blood cells break down prematurely due to a defect in the PIGA gene. This defect leads to the absence of certain proteins that protect red blood cells from being destroyed by the immune system. The destruction of red blood cells (hemolysis) occurs mainly at night, hence the term "nocturnal."


Symptoms of PNH


Symptoms of PNH can vary widely in severity and may include:

  • Hemoglobinuria: Dark or cola-colored urine, especially in the morning, due to the presence of hemoglobin from destroyed red blood cells.
  • Fatigue: Severe and persistent tiredness due to anemia.
  • Shortness of Breath: Caused by reduced oxygen-carrying capacity of the blood.
  • Pallor: Pale skin and mucous membranes due to anemia.
  • Abdominal Pain: Caused by blood clots in abdominal veins.
  • Thrombosis: Increased risk of blood clots in veins and arteries, which can lead to serious complications such as stroke.
  • Esophageal Spasms: Painful spasms in the esophagus.
  • Jaundice: Yellowing of the skin and eyes due to increased bilirubin from hemolysis.


Causes of PNH

PNH is caused by a mutation in the PIGA gene, which is acquired rather than inherited. This mutation leads to the absence of certain proteins on the surface of red blood cells that normally protect them from the immune system. The exact reason for this mutation is unknown, but it is believed to occur in a single stem cell in the bone marrow, which then multiplies and produces defective red blood cells.


Diagnosis of PNH


Diagnosing PNH involves several tests, including:

  • Blood Tests: To detect hemolysis and measure levels of hemoglobin, bilirubin, and lactate dehydrogenase (LDH).
  • Flow Cytometry: A specialized test that identifies the absence of protective proteins on red blood cells.
  • Bone Marrow Examination: To assess the production and appearance of blood cells.


Treatment Options for PNH

While there is no cure for PNH, treatments focus on managing symptoms and preventing complications:


Eculizumab (Soliris):

  • A monoclonal antibody that inhibits the complement system, preventing the destruction of red blood cells.
  • Administered through intravenous infusion.
  • Reduces hemolysis, decreases the need for blood transfusions, and lowers the risk of thrombosis.


Ravulizumab (Ultomiris):

  • A newer monoclonal antibody similar to eculizumab but with a longer duration of action.
  • Administered less frequently than eculizumab.


Blood Transfusions:

  • To manage severe anemia and restore healthy red blood cell levels.
  • Iron and Folic Acid Supplements:
  • To support red blood cell production and address deficiencies caused by hemolysis.


Anticoagulants:

  • To prevent blood clots in patients at high risk of thrombosis.


Bone Marrow Transplant:

  • A potential cure but involves significant risks and is usually considered for severe cases not responsive to other treatments.


Lifestyle and Supportive Care

  • Regular Monitoring: Frequent medical check-ups to monitor blood counts and organ function.
  • Hydration: Drinking plenty of fluids to help prevent kidney damage from hemoglobinuria.
  • Avoiding Triggers: Identifying and avoiding factors that can exacerbate hemolysis, such as certain medications or infections.
  • Support Groups: Joining support groups for PNH patients can provide emotional support and practical advice.


Conclusion

Nocturnal hemoglobinuria is a rare but serious condition requiring careful management and treatment. With the right medical care, many patients with PNH can manage their symptoms and lead relatively normal lives. Regular monitoring and adherence to treatment plans are crucial for minimizing complications and improving quality of life. If you suspect you have symptoms of PNH, consult a healthcare provider for a thorough evaluation and appropriate management.