What is it?
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired blood disorder characterized by the breakdown of red blood cells and the impaired production of new blood cells by the bone marrow. It is caused by a defect in the PIG-A gene, which results in the deficiency of certain proteins on the surface of blood cells, making them more susceptible to complement-mediated destruction. PNH is associated with hemolysis (red blood cell destruction), intravascular blood clotting, and bone marrow failure.
What are its symptoms?
The main symptoms of PNH include episodes of dark urine (hemoglobinuria) due to the presence of free hemoglobin, fatigue, shortness of breath, abdominal pain, chest pain, back pain, and blood clot formation. The severity of symptoms can vary among individuals, and complications such as thrombosis (blood clot formation) in various organs, including the liver, kidneys, and brain, can occur.
What do I need to consider?
It is important to note that PNH is a chronic condition that requires ongoing management. The diagnosis of PNH is based on clinical evaluation, laboratory tests, and flow cytometry analysis to detect the absence or decreased expression of certain proteins on blood cells. Treatment options for PNH may include supportive care to manage symptoms, blood transfusions, immunosuppressive therapy, and targeted therapy with a medication called eculizumab, which inhibits complement activation.
People with PNH should receive regular medical follow-ups and be monitored for complications such as blood clots and bone marrow failure. It is also essential to maintain a healthy lifestyle, including avoiding smoking, staying physically active, and managing stress. Genetic counseling may be recommended for individuals with PNH and their family members to assess the risk of passing on the condition.
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References
- MedlinePlus. Hemoglobinuria paroxística nocturna. Retrieved from https://medlineplus.gov/spanish/ency/article/000537.htm
- Elsevier. Hemoglobinuria paroxística nocturna. Abordaje de tratamiento. Retrieved from https://www.elsevier.es/es-revista-offarm-4-articulo-hemoglobinuria-paroxistica-nocturna-abordaje-tratamiento-13000613
- National Organization for Rare Disorders (NORD). Paroxysmal Nocturnal Hemoglobinuria. Retrieved from https://rarediseases.org/rare-diseases/paroxysmal-nocturnal-hemoglobinuria/
- Merck Manual Professional Version. Paroxysmal Nocturnal Hemoglobinuria (PNH). Retrieved from https://www.msdmanuals.com/professional/hematology-and-oncology/anemias-caused-by-hemolysis/paroxysmal-nocturnal-hemoglobinuria-pnh