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Paroxysmal nocturnal hemoglobinuria (PNH)

Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare, acquired, and potentially life-threatening blood disorder in which red blood cells break down prematurely, releasing hemoglobin into the bloodstream. The condition is characterized by hemolysis (destruction of red blood cells), thrombosis (blood clots), and bone marrow failure. The name "nocturnal" refers to the fact that symptoms often worsen at night, although the condition can affect individuals at any time of day.

Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare, acquired, and potentially life-threatening blood disorder in which red blood cells break down prematurely, releasing hemoglobin into the bloodstream. The condition is characterized by hemolysis (destruction of red blood cells), thrombosis (blood clots), and bone marrow failure. The name "nocturnal" refers to the fact that symptoms often worsen at night, although the condition can affect individuals at any time of day.

Causes of PNH:

PNH is caused by a mutation in the PIGA gene (phosphatidylinositol glycan anchor biosynthesis class A), which leads to defective red blood cell membranes. This mutation results in the loss of certain protective proteins on the surface of red blood cells. One of these proteins is called CD55, which normally helps to protect the red blood cells from being attacked by the body’s immune system.

As a result of the mutation:

  1. Red blood cells are more susceptible to complement-mediated destruction, where part of the immune system (complement system) attacks and breaks down the red blood cells.
  2. The breakdown of red blood cells leads to the release of hemoglobin into the blood, which can cause complications like kidney damage and increased iron levels.

Symptoms of PNH:

The symptoms of PNH can vary widely in severity but may include:

  1. Hemolysis (Red Blood Cell Destruction):
    • Dark urine (often noticed in the morning, due to the release of hemoglobin during the night).
    • Fatigue and weakness due to anemia (a lack of healthy red blood cells).
    • Shortness of breath and dizziness.
    • Jaundice (yellowing of the skin and eyes).
  2. Thrombosis (Blood Clots):
    • People with PNH are at an increased risk of developing blood clots in veins, especially in unusual locations such as the abdomen, liver, and brain.
    • Deep vein thrombosis (DVT), pulmonary embolism (PE), and stroke can occur.
  3. Bone Marrow Failure:
    • Aplastic anemia, where the bone marrow fails to produce enough blood cells, leading to low blood counts (red blood cells, white blood cells, and platelets).
    • Symptoms of bone marrow failure may include frequent infections, easy bruising, and bleeding tendencies.
  4. Other Symptoms:
    • Abdominal pain or discomfort, especially during hemolytic episodes.
    • Headaches and difficulty concentrating due to the low oxygen levels in the blood.

Diagnosis of PNH:

Diagnosing PNH involves several tests, including:

  1. Flow cytometry: This is the most common and definitive test for PNH, where blood cells are analyzed for the presence of defective red blood cell markers (CD55 and CD59) that are absent in PNH cells.
  2. Complete blood count (CBC): To check for anemia, low platelet counts, and other abnormalities in the blood.
  3. Lactate dehydrogenase (LDH): Elevated LDH levels can indicate the breakdown of red blood cells.
  4. Urine test: Urine may be tested for the presence of hemoglobin, which can occur due to red blood cell destruction.
  5. Coombs test: This may be done to rule out autoimmune hemolytic anemia, which has similar symptoms.

Treatment of PNH:

Treatment for PNH is focused on managing symptoms, reducing the risk of complications, and improving the quality of life. Key treatment options include:

  1. Eculizumab (Soliris):
    • This is a monoclonal antibody that inhibits the complement system, specifically targeting C5, a component of the immune system that attacks the red blood cells. By inhibiting this, eculizumab helps prevent the hemolysis (destruction) of red blood cells in PNH.
    • It significantly reduces hemolysis, improves quality of life, and lowers the risk of thrombosis.
  2. Ravulizumab (Ultomiris):
    • A newer, longer-acting complement inhibitor, similar to eculizumab, that helps reduce hemolysis and the risk of blood clots.
  3. Blood Transfusions:
    • Transfusions may be required in some cases of severe anemia to boost red blood cell levels.
  4. Bone Marrow Support:
    • In cases of bone marrow failure, growth factors (such as erythropoiesis-stimulating agents) and stem cell transplants (in severe cases) may be considered.
  5. Anticoagulation Therapy:
    • To reduce the risk of thrombosis, anticoagulants such as warfarin or direct oral anticoagulants may be used.
  6. Supportive Care:
    • Managing pain, fatigue, and other symptoms of anemia.

Prognosis:

With early and proper treatment, individuals with PNH can live relatively normal lives. However, PNH can be associated with severe complications like thrombosis, which can be life-threatening. The prognosis largely depends on the severity of the disease, the effectiveness of treatments (especially eculizumab), and how well complications such as blood clots are managed. Without treatment, PNH can lead to serious complications and significantly reduce life expectancy.

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