Marchiafava–Micheli disease

Marchiafava–Micheli disease, also known as Paroxysmal Nocturnal Hemoglobinuria (PNH), is a rare, acquired, life-threatening disease of the blood characterized by the destruction of red blood cells, bone marrow failure, and blood clots. This article provides an overview of the disease, including its symptoms, causes, diagnosis, and treatment options.

Symptoms

The primary symptom of Marchiafava–Micheli disease is hemoglobinuria, which is the presence of hemoglobin in the urine, leading to urine that is dark colored, especially in the morning. Other symptoms may include:

• Fatigue and weakness due to anemia
• Difficulty breathing
• Thrombosis (blood clots), especially in unusual locations such as the abdominal veins
• Abdominal pain
• Pancytopenia (reduction in the number of red and white blood cells, as well as platelets)
• Jaundice (yellowing of the skin and eyes)

Causes

Marchiafava–Micheli disease is caused by a mutation in the PIGA gene, which is acquired (not inherited) in a person's lifetime. This mutation leads to the production of blood cells that are deficient in a particular protein that normally protects the cell from being destroyed by the immune system. Without this protection, red blood cells are more susceptible to being destroyed by the complement system, a part of the immune system.

Diagnosis

Diagnosis of Marchiafava–Micheli disease involves several tests, including:

• Blood tests to check for anemia and other abnormalities
• Flow cytometry to detect the absence of proteins that protect red blood cells from the immune system
• Urine tests for the presence of hemoglobin

Treatment

There is no cure for Marchiafava–Micheli disease, but treatments are available to manage symptoms and reduce the risk of complications. Treatment options include:

• Eculizumab, a monoclonal antibody that inhibits the complement system, reducing red blood cell destruction
• Iron supplements and folic acid to manage anemia
• Blood transfusions in cases of severe anemia
• Anticoagulants to prevent thrombosis
• Bone marrow transplantation in severe cases

Prognosis

The prognosis for individuals with Marchiafava–Micheli disease has improved significantly with the introduction of eculizumab. However, the disease can still be life-threatening, especially if complications such as thrombosis occur. Regular monitoring and treatment are essential for managing the disease.

Marchiafava–Micheli disease Resources
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