Gaucher disease is a hereditary disease in which lipid metabolism is impaired in the body. This disease is one of the most common among those that are characterized by lysosomal accumulations 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 involved in treating a patient with an enlarged spleen and liver.
Description of the disease
Gaucher disease is extremely rare: among 100,000 people, only one patient is found. Moreover, in the human body there are specific cells called macrophages, which are responsible for destroying cell fragments in order to split them for reuse. This recirculation process can take place inside cell structures called “lysosomes”. Lysosomes contain special enzymes that can break down glucocerebrosidases. In people who are sick with this disease, there is a decrease in this enzyme that accumulates inside lysosomes. Against this background, the number of macrophages begins to increase, and their growth progresses. 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 are not fully understood.
- The first type is the most common among the rest and occurs in about 50 out of 70,000 people. In some patients, it can proceed calmly without causing vivid symptoms, while in others, very serious disorders can occur that often become life-threatening. 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, in about one case per 100,000 people. Symptoms of this type of Gaucher disease are already observed in the first year of life. In this case, the child develops serious neurological disorders. According to statistics, such children do not live up to three years.
- The third type is characterized by the development of a chronic form of neuronopathy, 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, nevertheless, a person can live to adulthood.
Symptoms of Gaucher Disease
The clinical picture of such a disease is ambiguous. Sometimes it happens that the diagnosis of the disease is difficult. This is due to too mild symptoms. However, even in cases of their special severity, doctors often find it difficult to make a correct diagnosis due to the rarity of the disease. This is also complicated by the fact that the symptoms of the disease are very similar to the processes of hematological diseases. Symptoms in this case are:
- An increase in the spleen and liver, which provokes, as a rule, severe pain in the abdomen, uncomfortable conditions of a general nature, a feeling of false satiety. Sometimes the liver increases in size slightly, but this can be observed when the spleen is removed.
- Anemia.
- General weakness and fatigue.
- Pale skin color.
- Thrombocytopenia - a decrease in platelet count. This often leads to nosebleeds, bruises on the body, 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 Gaucher disease develops such a disease as arthrodesis of the foot and lower leg.
- Dysplasia in children.
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 the results are positive. These methods include:
- Blood analysis. This is one of the most accurate diagnostic methods for 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. This method is the second most popular after determining the enzymatic composition of the blood. His results also show a lack of the above enzyme, but in addition, also genetic mutations that could provoke the development of Gaucher disease. This method was developed recently. It is based on the latest research by biologists. Its advantages are 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 detected 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 that are characteristic of Gaucher disease. Until recently, such a diagnosis was the only method to determine whether a person has such a disease. However, it is very imperfect in the sense that it was possible to diagnose an ailment only in those cases when people were already sick. Today in practical medicine it is almost never used.
Acute form of the disease
This form of the disease affects infants only and the process of its development begins even from fetal life. The characteristic signs of this ailment are the following:
- developmental delay;
- fever;
- swelling in the joints;
- cough or cyanosis, which are the causes of respiratory failure;
- an increase in the size of the abdomen;
- leaching of calcium from the body;
- pallor of the skin;
- enlarged lymph nodes;
- rashes on the skin of the face;
- increased levels of lipids, as well as cholesterol;
- thrombocytopenia;
- leukopenia;
- anemia;
- difficulty swallowing;
- increased muscle tone;
- a variety of paralysis;
- blindness;
- strabismus;
- cramps
- opisthotonus;
- cachexia;
- dystrophic changes.
The prognosis of the course of the disease for such infants is extremely unfavorable. As a rule, in the first year of life, the patient dies.
Chronic course of the disease
Gaucher disease manifests itself at about the age of 5 to 8 years. Characteristic features are:
- splenomegaly;
- spontaneous pain in the lower extremities;
- hip deformities are possible;
- discoloration of the skin, their pigmentation in the neck and face, as well as the palms;
- anemia;
- leukopenia;
- granulocytopenia;
- thrombocytopenia;
- the level of cholesterol and lipids is normal;
- the content of p-globulins in the blood;
- high activity of acid phosphase.
The condition of a sick child may be in a satisfactory phase for a long time. At a certain point, a general condition may begin to worsen, the developmental delay becomes most noticeable, and all the symptoms characteristic of Gaucher disease begin to progress. In addition, there is a significant decrease in immunity.
There is one very important nuance in this disease, which is that the development of the disease depends on the age of the patient. The younger the patient - the more difficult the disease can be treated, and the higher the likelihood of death.
Treatment for 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, as a rule, is ineffective, aimed mainly at suppressing symptoms and relieving pain.
Consider drugs for treating Gaucher disease.
For therapy, glucocorticosteroids and cytostatics are most often used. Stimulants are widely used in modern medicine:
- hematopoiesis;
- transfusion of plasma and blood;
- the introduction of sodium nucleinate, saturated fatty acids, as well as a number of vitamins. Children with Gaucher disease are usually dispensary registered with specialists such as a hematologist and a pediatrician. Any preventive vaccinations that are used for healthy children are contraindicated for them.
Features of treatment in adults
For people in whom the disease developed in adulthood, spleen removal, orthopedic surgery to eliminate fractures resulting from the development of the disease, enzyme therapy can be used as treatment. The essence of the last event is that every two weeks the patient is injected with a certain drug.
Substitution 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 created on the basis of the latest achievements of genetic engineering and help replace natural enzymes either partially or completely. A positive result of drug treatment is achieved in the early stages of the disease.