Health A-Z

Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare, acquired hematologic disorder characterized by the abnormal breakdown of red blood cells (hemolysis), blood clots (thrombosis), and bone marrow failure. Here's an overview of symptoms, diagnosis, and treatment options.

1. Hemolysis:

   • Dark urine (due to the presence of hemoglobin from the breakdown of red blood cells).
   • Fatigue, weakness, and pallor (due to anemia resulting from red blood cell destruction).
   • Shortness of breath and palpitations (due to decreased oxygen-carrying capacity of the blood).

2. Thrombosis:

   • Blood clots in veins (deep vein thrombosis) or arteries (thrombosis) leading to symptoms such as pain, swelling, and redness in the affected area.
   • Stroke or heart attack in severe cases.

3. Bone Marrow Failure:

   • Decreased production of red blood cells, white blood cells, and platelets, leading to symptoms such as increased susceptibility to infections, easy bruising or bleeding, and frequent nosebleeds.

1. Eculizumab (Soliris): This is a monoclonal antibody that inhibits the complement system, thereby preventing hemolysis and reducing the risk of thrombosis. It is the standard treatment for PNH and has been shown to improve symptoms, reduce hemolysis, and decrease the risk of thrombosis.

2. Supportive Care:

   • Blood transfusions may be necessary to manage anemia.
   • Anticoagulant therapy (e.g., warfarin, heparin) may be prescribed to prevent thrombosis.
   • Antibiotics or antifungal medications may be given to prevent or treat infections.

3. Bone Marrow Transplantation: This may be considered in younger patients with severe PNH and bone marrow failure who have a suitable donor.

4. Symptom Management: Treatment of specific symptoms such as pain, fatigue, and shortness of breath with appropriate medications or supportive measures.

5. Regular Monitoring: Patients with PNH require regular monitoring of their blood counts,

1. Clinical Assessment: A thorough medical history and physical examination to evaluate symptoms and signs suggestive of PNH.

2. Laboratory Tests:

   • Flow cytometry: This is the primary diagnostic test for PNH. It measures the presence of a PNH clone, which is a population of blood cells lacking certain surface proteins (CD55 and CD59) that protect against complement-mediated destruction.
   • Complete blood count (CBC) and blood smear: These tests may reveal evidence of hemolysis (e.g., low hemoglobin, elevated reticulocyte count) and may show abnormalities in red blood cell morphology.

3. Bone Marrow Biopsy: This may be performed to assess the degree of bone marrow failure and to confirm the presence of a PNH clone.