Gaucher's disease is a rare hereditary disease, leading to accumulation in specific organs (primarily in the liver, spleen and bone marrow) of specific fat deposits. For the first time this disease was identified and described by the French physician Philip Gaucher in 1882. He found specific cells in patients with enlarged spleen, in which uncleaved fats accumulated. Subsequently, such cells began to be called Gaucher cells, and the disease, respectively, Gaucher disease.
Lysosomal storage diseases
Lysosomal diseases (diseases of accumulation of lipids) is a common name for a number of hereditary diseases associated with disruption of intracellular cleavage of certain substances. Due to defects and deficiency of certain enzymes, certain types of lipids (for example, glycogen, glycosaminoglycans) do not split and are not excreted from the body, but accumulate in cells.
Lysosomal diseases are very rare. So, the most common of all - Gaucher disease, occurs with an average frequency of 1: 40000. The frequency is given on average because the disease is hereditary in terms of the autosomal recessive type and in some closed ethnic groups it can occur up to 30 times more often.
Classification of Gaucher's Disease
This disease is caused by a defect in the gene responsible for the synthesis of beta-glucocerebrosidase, an enzyme that stimulates the cleavage of certain fats (glucocerebrosides). In people with this disease, the necessary enzyme is not enough, because the fats do not split, but accumulate in the cells.
There are three types of Gaucher disease:
- The first type. The most mild and often occurring form. Characterized by a painless increase in the spleen, a small increase in the liver. The central nervous system is not affected.
- The second type. Rarely occurring form with acute neuronal damage. It manifests itself usually in early infancy and most often leads to death.
- The third type. Juvenile subacute form. Diagnosed usually at the age of 2 to 4 years. There are lesions of the hematopoietic system (bone marrow) and gradual uneven lesion of the nervous system.
Symptoms of Gaucher Disease
When the disease, Gaucher cells gradually accumulate in the organs. First there is an asymptomatic increase in the spleen, then the liver, there are pains in the bones. Over time, the development of anemia , thrombocytopenia, spontaneous bleeding is possible. At 2 and 3 type of disease, the brain and nervous system as a whole are affected. At type 3, one of the most characteristic symptoms of damage to the nervous system is a violation of eye movements.
Diagnosis of Gaucher's Disease
The Gaucher disease can be diagnosed by molecular analysis of the glucocerebrosidase gene. However, this method is extremely complex and expensive, so it is resorted to in rare cases, when the diagnosis of the disease is difficult. Most often, the diagnosis is made when Gaucher cells are detected in a bone marrow puncture or enlarged spleen during a biopsy. Radiography of bones can also be used to identify characteristic disorders associated with bone marrow damage.
Treatment of Gaucher Disease
To date, the only effective method of treating the disease - the method of substitution therapy with imiglucerase, a drug that replaces the missing enzyme in the body. It helps to reduce or neutralize the effects of organ damage, restore normal metabolism. Substituting drugs
Transplantation of bone marrow or stem cells refers to a fairly radical therapy with a high mortality rate and is only used as a last chance if any other treatment methods are ineffective.