Hereditary Spherocytosis and Hereditary Elliptocytosis: Causes, Symptoms, Diagnosis, Treatment
Last reviewed: 23.04.2024
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Hereditary spherocytosis and hereditary elliptocytosis are congenital anomalies of the erythrocyte membrane. With hereditary spherocytosis and elliptocytosis, the symptoms are usually mild and include anemia of varying severity, jaundice and splenomegaly. To confirm the diagnosis, the presence of reduced osmotic resistance of erythrocytes and negative direct antiglobulin test is necessary. Occasionally, patients younger than 45 years of age require splenectomy.
[Causes of the hereditary spherocytosis and elliptocytosis
Hereditary spherocytosis (chronic family jaundice, hereditary hemolytic jaundice, family spherocytosis, spherocytic anemia) is an autosomal dominant disease with various gene mutations. The disease is characterized by hemolysis of spheroidal erythrocytes and the development of anemia.
Pathogenesis
Disturbances in the structure of membrane proteins lead to an abnormality of erythrocytes in both diseases. In hereditary spherocytosis, the outer membrane of the cell membrane is reduced disproportionately to intracellular contents. Reduction of the outer shell of the cell reduces its elasticity, and when passing through the microcirculatory bed in the spleen, hemolysis develops.
Symptoms of the hereditary spherocytosis and elliptocytosis
Symptoms and complaints of hereditary spherocytosis are usually moderately expressed, anemia can be compensated well enough and not recognized until another viral infection that transiently reduces the production of red blood cells, stimulating the development of aplastic crisis. However, these manifestations disappear with the termination of infection. In severe cases, there is a moderate yellowness and symptoms of anemia. Almost always there is splenomegaly, which rarely leads to abdominal discomfort. Possible development of hepatomegaly. Chololithiasis (pigmentary stones) is a common occurrence and can cause characteristic symptoms. Congenital anomalies of the skeleton (for example, "tower" skull, polydactyly) are rare. Although usually one or more family members have signs of the disease, some families may not have them, which is caused by different variants in the degree of gene mutation.
Clinical features of hereditary ellipticosis are similar to those that are present in hereditary spherocytosis, but with lighter manifestations.
Diagnostics of the hereditary spherocytosis and elliptocytosis
The presence of these diseases is expected in patients with unexplained hemolysis, especially if there are splenomegaly, a family history with similar clinical manifestations or characteristic erythrocyte indices. Due to the fact that the erythrocytes are spheroidal and MCV is within the normal range, the average particle diameter is below normal and the erythrocytes have a similarity with microspherocytes, ICSH is increased. Typical is reticulocytosis from 15 to 30% and leukocytosis.
If suspected of these diseases, the following studies are performed: the determination of the osmotic resistance of erythrocytes (in which red blood cells are placed in salt solutions of different concentrations), the test for autohemolysis of erythrocytes (measure the level of spontaneous hemolysis after 48 hours of incubation under sterile conditions) to exclude spherocytosis due to autoimmune hemolytic anemia, conduct a direct antiglobulin test (Coombs). The decrease in osmotic resistance of erythrocytes is characteristic, but in mild cases it can be normal except for a test in which sterile defibrinated blood is incubated at 37 ° C for 24 hours. The autohemolysis of red blood cells is increased and can be corrected by the addition of glucose. The direct antiglobulin test of Coombs is negative.
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Treatment of the hereditary spherocytosis and elliptocytosis
The only specific treatment for these diseases is splenectomy, which is performed after vaccination with pneumococcal vaccine in children, but it rarely occurs in adults. Splenectomy is indicated for patients younger than 45 years of age who have a consistent hemoglobin level of less than 100 g / L, jaundice, hepatic colic or persistent aplasia. If the gallbladder contains stones or there are signs of cholestasis, it should be removed during splenectomy. Although spherocytosis persists after splenectomy, the lifespan of cells in the circulation increases. Symptoms of anemia and reticulocytosis disappear, but the fragility of red blood cells remains high.