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Paroxysmal nocturnal hemoglobinuria (Marciafawa-Micheli's disease)
Last reviewed: 23.04.2024
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Paroxysmal nocturnal hemoglobinuria (Marciafawa-Micheli's disease) is a rare form of acquired hemolytic anemia, occurring at a frequency of 1:50 000 in the population.
In paroxysmal nocturnal hemoglobinuria, a clone of hematopoietic cells loses the ability to synthesize glycophosphatidylinositol, which is necessary for binding complement regulators to the erythrocyte membrane, which makes the erythrocytes extremely sensitive to lysis by complement. Paroxysmal nocturnal hemoglobinuria is characterized by episodes of intravascular hemolysis with the appearance of hemoglobinuria and hemosiderinuria. Often there are venous thromboses, especially mesenteric, portal, cerebral and deep veins, caused by platelet aggregation, caused by uncontrolled activation of complement. Possible transformation of the disease into aplastic anemia, myelodysplastic syndrome, acute myeloblastic leukemia.
Laboratory-detected normocytic anemia, normochromic (in the early stages of the disease) or hypochromic (as the disease progresses), hyperregenerative, morphologically marked anisopoquilocytosis, polychromasia, possibly the appearance of normocytes. Thrombocytopenia (more often mild) and leukogranulocytopenia (can be pronounced) are noted. The level of serum iron is significantly reduced. The activity of alkaline phosphatase in leukocytes is low. Diagnosis of the disease on the basis of confirmation of abnormal lysis of erythrocytes in the presence of complement, activated with acidified serum (Ham test) or lysis in a hypotonic environment in the presence of sucrose. At present, a method of flow cytometry has been developed that makes it possible to determine the absence of a decay acceleration factor and a reactive lysis inhibitor on the erythrocyte membrane. These two proteins are regulators of the complement function and are attached to the cell membrane with glycophosphatidylinositol. Treatment is symptomatic. Replacement hemotransfusion therapy is performed to suppress the proliferation of the abnormal clone. Sometimes the use of corticosteroids is effective. In the transformation of paroxysmal nocturnal hemoglobinuria into aplastic anemia or the development of severe thrombotic complications, bone marrow transplantation is advisable.
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