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(D59.5) Paroxysmal nocturnal haemoglobinuria [marchiafava-micheli]
More details coming soon
334 581 in individuals diagnosis paroxysmal nocturnal haemoglobinuria [marchiafava-micheli] confirmed
11 068 deaths with diagnosis paroxysmal nocturnal haemoglobinuria [marchiafava-micheli]
3% mortality rate associated with the disease paroxysmal nocturnal haemoglobinuria [marchiafava-micheli]
Diagnosis paroxysmal nocturnal haemoglobinuria [marchiafava-micheli] is diagnosed Women are 8.82% more likely than Men
152 537
Men receive the diagnosis paroxysmal nocturnal haemoglobinuria [marchiafava-micheli]
4 524 (3.0 %)Died from this diagnosis.
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Women receive the diagnosis paroxysmal nocturnal haemoglobinuria [marchiafava-micheli]
6 544 (3.6 %)Died from this diagnosis.
Risk Group for the Disease paroxysmal nocturnal haemoglobinuria [marchiafava-micheli] - Men aged 0-5 and Women aged 75-79
In Men diagnosis is most often set at age 0-94
Less common in men the disease occurs at Age 95+in in women, the disease manifests at any age
In Women diagnosis is most often set at age 0-95+
Disease Features paroxysmal nocturnal haemoglobinuria [marchiafava-micheli]
Absence or low individual and public risk
Paroxysmal nocturnal haemoglobinuria [marchiafava-micheli] - what does this mean
Paroxysmal nocturnal haemoglobinuria (pnh) is a rare, acquired, life-threatening blood disorder caused by a genetic defect in the stem cells of the bone marrow. it is characterized by the destruction of red blood cells, leading to anemia, clotting problems, and organ damage. the destruction of red blood cells is caused by the activation of the complement system in the blood, which is triggered by the presence of a specific protein, cd55, which is absent in pnh cells.
What happens during the disease - paroxysmal nocturnal haemoglobinuria [marchiafava-micheli]
Paroxysmal nocturnal haemoglobinuria (pnh) is a rare, acquired, life-threatening disorder caused by a defect in the gpi-anchored proteins on the surface of red blood cells. this defect leads to an increased susceptibility to complement-mediated lysis of red blood cells, resulting in anemia, thrombosis, and organ damage due to the release of hemoglobin and other cell components into the bloodstream. in addition, the lack of gpi-anchored proteins on the cell surface can lead to impaired phagocytosis, resulting in increased susceptibility to infection.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Complete blood count (CBC) with peripheral blood smear
- Flow cytometry to detect PNH clone
- Serum lactate dehydrogenase (LDH) level
- Serum haptoglobin level
- Serum free hemoglobin level
- Coomb’s test
- Bone marrow biopsy with flow cytometry
- Genetic testing for PIG-A mutation
- Urinalysis
- Imaging studies to detect organomegaly
Treatment and Medical Assistance
Main goal of the treatment: To reduce the amount of blood cell destruction and improve the patient's quality of life.
- Treat underlying conditions that may be causing the destruction of blood cells, such as infections, autoimmune disorders, or certain medications.
- Administer medications to suppress the body’s immune system, such as corticosteroids, cyclosporine, or azathioprine.
- Prescribe a medication to reduce the production of red blood cells, such as hydroxyurea.
- Administer a blood transfusion to replace red blood cells.
- Perform a stem cell transplant to replace the destroyed blood cells.
- Prescribe medications to prevent blood clots, such as anticoagulants.
- Provide lifestyle advice on how to manage the disease, such as avoiding certain foods or taking iron supplements.
17 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Paroxysmal nocturnal haemoglobinuria [marchiafava-micheli] - Prevention
The best way to prevent paroxysmal nocturnal haemoglobinuria (marchiafava-micheli) is to practice good hygiene habits such as washing hands regularly, avoiding contact with people who are ill, and getting vaccinated against any infections that can increase the risk of developing this condition. additionally, regular check-ups with a doctor and early diagnosis of any symptoms can help to reduce the risk of developing this condition.