Gaucher disease is a hereditary disease in which lipid metabolism is disturbed in the body. This disease is one of the most common among those characterized by lysosomal accumulation associated with the complete absence or deficiency of lysosomal enzymes.
The disease was first discovered in 1882 by the French scientist Philippe Gaucher, who was treating a patient with an enlarged spleen and liver.
Description of the disease
Gaucher disease is extremely rare: among 100,000 people there is only one patient. At the same time, specific cells, called macrophages, are present in the human body, which are responsible for destroying cellular fragments in order to break them down for reuse. This recycling process can take place within cellular structures called "lysosomes". Lysosomes contain special enzymes that can break down glucocerebrosidase. In people who are sick with this disease, there is a decrease in this enzyme that accumulates inside the lysosomes. Against this background,increase the number of macrophages, and their growth - to progress. Such formations are called "Gaucher cells".
Varieties of Gaucher disease
Photos of patients are presented in the article. In modern medicine, there are three main types of this disease. But, unfortunately, the causes of Gaucher disease have not been fully studied.
- The first type is the most common among the rest and occurs in about 50 people out of 70,000. In some patients, it can proceed quietly, without causing vivid symptoms, while in others, very serious disorders may occur, which often become threatening their lives. In this case, the process of damage to the brain and nervous system begins.
- In the second type of inheritance, Gaucher disease has symptoms of severe neuronopathy. It is extremely rare, occurring in about one case per 100,000 people. Symptoms of this variety of Gaucher disease are observed already in the first year of life. In this case, the child develops serious neurological disorders. According to statistics, such children do not live past the age of three.
- The third type is characterized by the development of a chronic form of neuronopathy, which is as rare as type 2 disease. In this case, pronounced neurological symptoms are observed, but the disease proceeds more calmly. Symptoms appear in early childhood, but the person may still live to adulthood.
Gaucher disease symptoms
The clinical picture of this disease is ambiguous. SometimesIt happens that the diagnosis of the disease is difficult. This is due to too weak symptoms. However, even in cases of their particular severity, physicians often find it difficult to make a correct diagnosis due to the rarity of the disease. This is complicated by the fact that the symptoms of the disease are very similar to the processes of hematological diseases. The symptoms in this case are:
- Enlargement of the spleen and liver, which usually provokes severe pain in the abdomen, general discomfort, a feeling of false satiety. Sometimes the liver enlarges slightly, but this can be observed when the spleen is removed.
- Anemia.
- General weakness and fatigue.
- Pale skin color.
- Thrombocytopenia - a decrease in the level of platelets. This often results in nosebleeds, body bruising, and other hematological problems.
- Sometimes there are cases of destruction or weakening of bone tissue, which can manifest itself in the form of fractures that occur against the background of the absence of injuries. There are cases when, with Gaucher's disease, the development of such a disease as arthrodesis of the foot and lower leg occurs.
- Children's dysplasia.
What is the diagnosis of Gaucher disease?
Diagnostic Methods
Among the main ways to diagnose this disease are only three studies that indicate the presence of the disease only in cases where all results are positive. Tosuch methods include:
- Blood test. This is one of the most accurate methods for diagnosing this disease, by which the presence or absence of Gaucher enzymes is detected. In addition, the level of glucocerebrosidase in leukocytes and the presence of fibroblasts are determined.
- DNA tests. By popularity, this method is the second after the determination of the enzymatic composition of the blood. His results also show a lack of the above enzyme, but also genetic mutations that could trigger the development of Gaucher disease. This method has been developed quite recently. It is based on the latest research by biologists. Its advantages lie in the fact that this method allows you to determine the disease in the initial stages, sometimes even in the early stages of pregnancy. The carrier of the disease can be identified with a probability of up to 90%.
- The third method allows you to analyze the structure of the bone marrow and identify changes in its cells, which are characteristic of Gaucher's disease. Until recently, such a diagnosis was the only method to determine the presence of such a disease in a person. However, it is very imperfect in the sense that it was possible to diagnose an illness only in cases where people were already sick. Today, it is almost never used in practical medicine.
Acute disease
This form of the disease affects only infants and begins the process of its development even in fetal life. The characteristic signs of this disease are the following:
- developmental delay;
- fever;
- swelling in the joints;
- cough or cyanosis, which are causes of respiratory failure;
- increase in the size of the abdomen;
- leaching calcium out of the body;
- pallor of the skin;
- enlarged lymph nodes;
- rashes on the skin of the face;
- increase in lipid levels as well as cholesterol;
- thrombocytopenia;
- leucopenia;
- anemia;
- difficulty swallowing;
- increased muscle tone;
- various paralysis;
- blindness;
- strabismus;
- convulsions;
- opisthotonus;
- cachexia;
- dystrophic changes.
The prognosis of the course of the disease for these infants is extremely unfavorable. As a rule, the death of the patient occurs in the first year of life.
Chronic course of the disease
Gaucher disease manifests itself around the age of 5 - 8 years. Characteristics are:
- splenomegaly;
- spontaneous pain in the lower extremities;
- possible hip deformities;
- discoloration of the skin, their pigmentation in the neck and face, as well as palms;
- anemia;
- leucopenia;
- granulocytopenia;
- thrombocytopenia;
- cholesterol and lipid levels are normal;
- content of p-globulins in the blood;
- high activity of acidic phosphase.
Conditiona sick child can be in a satisfactory phase for a long time. At a certain point, the general condition may begin to deteriorate, developmental delay becomes most noticeable, and all the symptoms characteristic of Gaucher's disease begin to progress. In addition, there is a significant decrease in immunity.
In this disease there is one very important nuance, which is that the development of the disease depends on the age of the patient. The younger the patient, the more difficult the disease is to be treated, and the higher the likelihood of death.
Treatment of Gaucher disease should be comprehensive. It must also be carried out by a qualified specialist.
Treatment of this pathology
Due to the fact that this disease is very rare, its treatment is usually ineffective, mainly aimed at suppressing symptoms and relieving pain.
Let's consider drugs for the treatment of Gaucher's disease.
For therapy, glucocorticosteroids and cytostatics are most often used. Stimulants are widely used in modern medicine:
- hematopoiesis;
- Plasma and blood transfusions;
- introduction of sodium nucleinate, saturated fatty acids, and a number of vitamins. Children suffering from Gaucher disease are, as a rule, under the dispensary registration with such specialists as a hematologist and pediatrician. Any preventive vaccinations that are used for he althy children are contraindicated for them.
Features of treatment in adults
People who develop the disease in adulthood, inas a treatment, removal of the spleen, orthopedic operations to eliminate fractures that are a consequence of the development of the disease, enzyme therapy can be used. The essence of the last event is that every two weeks the patient is given injections of a certain drug.
Replacement therapy for this disease
There are also a number of medications that successfully help fight lysosomal disorders in the body. This is a replacement therapy, the essence of which is to make up for the lack of enzymes in the body, or to artificially supplement the missing parts of the enzymes. Such drugs are based on the latest achievements of genetic engineering and help to replace natural enzymes, either partially or completely. A positive result of drug treatment is achieved in the early stages of the disease.
