Congenital spherocytosis is the most commonly diagnosed hereditary hemolytic anemia. In the course of the disease, red blood cells (erythrocytes) take a spherical (spherical) shape instead of the normal biconcave shape, which promotes their destruction. What are the causes and symptoms of congenital spherocytosis? What is its treatment?

Congenital spherocytosis , also known as congenital hemolytic jaundice or Minkowski Chauffard disease, is a disease whose essence is the lack of proteins responsible for maintaining the proper shape of red blood cells. Consequently, erythrocytes take a spherical (spherical - hence the name spherocytosis) shape, instead of the correct biconcave shape, which favors their easy destruction in the spleen.

Congenital spherocytosis is the most commonly diagnosed congenitalhaemolytic anemiain northern Europe and North America. It occurs with the frequency of about 1 case in 2000-5000 births. The essence of this type ofanemiais the excessive breakdown of red blood cells and reduced survival time (erythrocytes normally live 100-120 days).

Congenital spherocytosis - causes

The disease is caused by a mutation in the genes encoding the structural proteins (membrane and cytoskeleton proteins) of red blood cells. A genetic defect leads to quantitative (usually lacking) and / or qualitative abnormalities of these proteins, which result in disturbances in the structure of the cell membrane of red blood cells. These blood cells are less flexible and find it difficult to travel through the blood vessels. As a consequence, damaged red blood cells are retained in the reticuloendothelial system of the spleen and then destroyed.

Congenital spherocytosis in about 80% cases run in families. In most cases (75%) the disease is inherited autosomal dominantly. This means that you only need to inherit one defective gene for it to develop. In other cases, the disease is inherited as an autosomal recessive trait (which means that mutated genes must be inherited from both parents for the symptoms of the disease to appear) or is the result of de novo mutations (a mutation in the genetic material, but not inherited from the parents, but emerging again).

Congenital spherocytosis - symptoms

The mild form of the disease canbe asymptomatic or have general symptoms of anemia, such as severe weakness, difficulty concentrating, dizziness, a feeling of rapid heartbeat.

Moderate form manifested by jaundice, dark urine, enlargement of the spleen and liver, and gallstone disease - these are the features of haemolytic anemia. These symptoms most often appear already in early childhood.

The severe form is characterized by severe jaundice and abdominal pain in the area of ​​the gallbladder. They can be joined by features characteristic of spherocytosis, i.e. bone development disorders (gothic palate, tower skull, wide base of the nose). The defect in the genes can also cause visual and hearing disorders (wide range of eyeballs).

Important

Congenital spherocytosis can lead to a hemolytic crisis

In the course of hereditary spherocytosis (like any other haemolytic anemia), the so-called hemolytic crisis. This is a condition in which large numbers of red blood cells break down rapidly, severely worsening the symptoms of the disease, with high fever, chills and fainting. In addition, complications include leg ulcers and cardiomyopathy.

Congenital spherocytosis - diagnosis

Physical examination shows more or less intense yellowing of the proteins of the eyes and skin, and sometimes enlargement of the spleen.

Blood counts show elevated bilirubin levels and lowered hemoglobin levels and erythrocytes. In order to determine the shape of erythrocytes, the osmotic resistance of erythrocytes is also performed - a test of the correctness of erythrocyte structure. However, the EMA test is decisive - a screening cytometric test that allows for the rapid assessment of abnormalities in the erythrocyte membrane proteins.

The doctor may decide to perform imaging tests, incl. Chest X-ray, abdominal ultrasound, computed tomography.

Congenital spherocytosis - treatment

In the case of a genetic disease, only symptomatic treatment can be applied. With congenital spherocytosis, drugs such as androgens, glucocorticosteroids, erythropoietin are used. The therapy also includes the transfusion of red blood cells. In severe cases, the spleen is removed.

Category:

Cardiology