makrocytärism

Makrocytärism refers to the presence of abnormally large red blood cells, known as macrocytes, in the peripheral blood. This condition is diagnosed by a complete blood count (CBC) that reveals an elevated mean corpuscular volume (MCV). The MCV is a measure of the average size of red blood cells.

The causes of makrocytärism are diverse and can be broadly categorized into nutritional deficiencies, ineffective erythropoiesis, and other miscellaneous factors. Nutritional deficiencies, particularly vitamin B12 and folate deficiency, are common culprits. These vitamins are essential for DNA synthesis, and their lack impairs the maturation of red blood cells, leading to larger cells with a shortened lifespan.

Ineffective erythropoiesis, a condition where red blood cell production is faulty, can also result in makrocytärism. This is seen in disorders like myelodysplastic syndromes, where bone marrow stem cells are abnormal and produce immature, large red blood cells. Certain medications, such as chemotherapy drugs and some anticonvulsants, can interfere with red blood cell production and lead to makrocytärism.

Other causes include chronic liver disease, hypothyroidism, and increased reticulocyte count, which represents young, larger red blood cells released prematurely from the bone marrow in response to anemia. Alcoholism is another significant cause, as it can directly affect bone marrow function and folate metabolism.

The clinical presentation of makrocytärism varies depending on the underlying cause. Patients may be asymptomatic, or they might experience symptoms related to the associated anemia, such as fatigue, weakness, and shortness of breath. Neurological symptoms can also be present in cases of severe vitamin B12 deficiency. Diagnosis requires a thorough medical history, physical examination, and further laboratory investigations to identify the specific cause. Treatment focuses on addressing the underlying etiology, such as vitamin supplementation for deficiencies or managing the underlying disease.