Gaucher disease is a rare genetic disease that can lead to dysfunction of the liver and spleen, as well as skeletal and nervous systems, preventing normal functioning. However, early diagnosis of the disease, and thus - early initiation of treatment, may not only lead to the inhibition of the disease progression, but also to the reversal of changes. What are the causes and symptoms of Gaucher disease? What is its treatment?

Gaucher diseaseislysosomal storage disease , a genetically determined disease in which, due to a deficiency or lack of one of the enzymes, occurs for the storage (accumulation) of various substances in lysosomes (the cellular structures responsible for digesting and storing substances).

In the course of Gaucher disease, lipids, i.e. fats (technically glucosylceramide), are deposited in the internal organs. This process is the result of a deficiency of glucocerebroside - an enzyme responsible for the breakdown of lipids in the body.

In this disease, an enzyme called glucocerebrosidase is deficient or absent. This enzyme is responsible for the breakdown of a substance belonging to the group of fats (glucocerebroside). When the enzyme malfunctions, the undegraded fatty substance accumulates in internal organs (including the spleen, liver and bone marrow) and destroys them.

Gaucher disease - causes

The cause of the disease is a mutation in the GBA gene, which encodes the enzyme beta-glucocerebrosidase. It causes a significant deficiency or no absence of glucocerebrosidase.

The disease is inherited in an autosomal recessive manner, i.e. for symptoms to appear, a defective copy of the genes must be inherited from both parents. Inheriting only one mutant copy makes it an asymptomatic carrier.

According to an expertprof. Maciej Machaczka, head of the Clinical Hematology Clinic of the Provincial Hospital No. F. Chopin in Rzeszów

Gaucher disease affects 1 in 50,000 people. Although its name may sound completely strange to many people, contrary to appearances, it is not a very rare disease. The frequency of its occurrence does not differ from that of some types of cancerhematological. Taking into account the size of the Polish population, we can assume that about 200 Poles may be affected by Gaucher disease.

Most of them have probably not been diagnosed so far. Therefore, the vigilance of hematologists who see patients depends on distinguishing Gaucher's disease from other hematological diseases

Gaucher disease - symptoms

There are three types of disease:

  • type I: no neurological symptoms (adult figure);
  • type II: acute neurological form (infant form);
  • type III: subacute neurological form (adolescent form);

Type I is the most common form of Gaucher disease (approximately 99 percent of Gaucher cases) and is characterized by:

  • liver enlargement and spleen enlargement;
  • thrombocytopenia (with secondary hemorrhagic diathesis);
  • anemia (anemia) (with subsequent weakness)
  • bone changes (bone pain, possible deformities and fractures)

On average, 3 out of 100 patients with undiagnosed blood diseases may struggle with Gaucher disease - says Wojciech Oświeciński, president of the Association of Families with Gaucher Disease.

The course of this form of the disease is milder than in the other types, because the enzyme, although in residual amounts, is present.

Type II is an acute neurological form, the so-called infant, which is characterized by the dominance of neurological symptoms:

  • convulsions;
  • strabismus;
  • progressive psychomotor dysfunction;
  • stridor or wheezing as a result of laryngospasm;

In addition, the liver and spleen are enlarged.

Type III of the disease is a form between types I and II (the so-called adolescent form). Its symptoms usually appear during childhood. Form IIIa is characterized by myotonia (prolonged muscle contraction) and mental retardation, and Form IIIb is supranuclear vision paralysis. In addition, enlargement of the liver and spleen as well as bone deformities (kyphosis) appear. The neurological symptoms are less severe.

Flesh and blood gaucher - first Gaucher disease information campaign

Gaucher disease - diagnosis

In order to diagnose the disease:

More information on Gaucher disease, as well as on the initiative "Gaucher made of blood and bones" can be found at www.chorobyspichrzeniowe.pl

  • blood test - it allows you to assess the level of glucocerebrosidase in blood leukocytes. In addition, tests are performed for thrombocytopenia,disorders of the coagulation process and anemia, which are characteristic of the disease;
  • analysis of liver cells, spleen (biopsy) or bone marrow - allows to identify the presence of the so-called Gaucher cells;

Instead of assessing the blood glucocerebrosidase levels, it is possible to test the skin to determine the enzyme activity in cultured skin fibroblasts collected from the patient.

Prenatal diagnosis of Gaucher disease is also possible, which consists in determining the activity of the enzyme in the chorionic villus or in cultures of amniotic fluid cells.

Gaucher disease - treatment

In the treatment of the disease, enzyme replacement therapy is used, using β-glucocerebrosidase, which has been available since 1991 (in Poland since 1995). It inhibits the accumulation of fatty substances in the organs, as well as the removal of their excess, which leads to the normalization of the size of the liver and spleen, as well as to the reduction or elimination of ailments from the skeletal system.

This type of treatment lasts for life. Patients are qualified for therapy by the Coordination Team for Ultra-rare Diseases, appointed by the President of the National He alth Fund. Since 2012, treatment under the drug program has been provided to all diagnosed and qualified patients in Poland.

Another form of treatment is experimental gene therapy.

Gaucher disease - complications

The omission of screening diagnosis of Gaucher disease in haematological patients may postpone the correct diagnosis of the disease by up to 10 years, which may contribute to:

  • bleeding complications and premature death
  • pulmonary hypertension
  • liver disease
  • sepsis
  • growth disorders
  • complications from advanced bone diseases
  • deterioration of patients' quality of life
Worth knowing

In 1882, Philippe Gaucher, a young medical student, described a previously unknown disease he discovered in a 32-year-old woman with an unusually enlarged spleen. However, this rare disease was not fully understood until the 1960s. Worldwide, over 10,000 people live with Gaucher disease.

It is particularly common among the inhabitants of Eastern Europe, thus theoretically affecting about 700 Poles, of whom only a few more than 70 are diagnosed and treated. Until 30 years ago, Gaucher disease was fatal.

The article uses the materials of the Association of Families with Gaucher Disease.

Category:

Genetic diseases