Gaucher disease is a genetic disorder that causes bone pain, anemia, organ enlargement, and bleeding. There are three types of the disease. Some types can cause severe brain damage and death. Type 1 Gaucher disease is treatable.
Table of Contents
What is Gaucher disease?
Gaucher disease is a lysosomal storage disease that causes the accumulation of lipid formations – sphingolipids – in vital organs: bone marrow, liver, spleen. Sphingolipids and lead to organ enlargement, weakening of bone structure and ultimately disruption of their function. Gaucher disease is not curable, although symptomatic treatment greatly improves the condition and quality of life.
How common is Gaucher disease?
The incidence of the disease is 1:6000 people worldwide. 95% of sufferers develop type 1.
Cause of Gaucher disease
Gaucher disease is an inherited metabolic disease. The cause of the disease is a mutation in the GBA gene. The GBA gene is involved in the synthesis of the enzyme glucocerebrosidase (GCase), which ensures the breakdown of lipids.
Deficiency of the enzyme glucocerebrosidase (GCase) leads to the accumulation of fatty deposits in internal organs and bone marrow. The accumulation of fat leads to organ dysfunction, bone destruction, and blood cell instability.
Types of Gaucher disease
There are three types of Gaucher disease. All of them have similar symptoms. Some forms affect the brain and cause neurological symptoms.
Gaucher disease type I
Type 1 Gaucher disease is the most common and affects the spleen, liver, blood, and bones. It does not affect the brain or spinal cord. Type 1 Gaucher disease is mild to moderate in severity. Rarely, severe weakness, bone and abdominal pain, and bleeding tendencies occur. The disease can begin in early childhood to late adulthood. There is no cure.
Gaucher disease type II
It is a rare form of the disease, which begins in infancy, before the age of 6 months. It causes an enlarged spleen, movement disorders, and severe brain damage. The disease is not curable. The life expectancy of children with this type of the disease does not exceed 2-3 years.
Gaucher disease type III
Type 3 Gaucher disease is the most common form worldwide. It appears in children under the age of 10 and causes abnormalities of internal organs and bones and neurological disorders. Treatment extends the life of the sufferer to 20-30 years.
Gaucher disease type I symptoms
The symptom complex of this type of disease is individual. Symptoms vary from mild to moderate in intensity. Severe manifestations or death are rare in this type.
The accumulation of fat in organs is associated with symptoms such as:
- Anemia – The buildup of lipids in the bone marrow damages the blood cells produced there and leads to the development of anemia.
- Enlargement of organs – Fatty deposits cause enlargement of the liver and spleen, which leads to abdominal distension and tenderness. An enlarged spleen breaks down platelets, leading to thrombocytopenia and a tendency to bleed.
- Bleeding and clotting disorders are caused by a deficiency of platelets. Any minor injury (nosebleed) or minor surgery can be complicated by bleeding.
- General weakness is a result of anemia
- Lung damage – results from the accumulation of fat in the lung tissue, hardening of the lung tissue, and difficulty breathing.
Decreased blood supply and oxygenation of bone tissue leads to disruption of its structure and bone fragility, which is followed by the development of symptoms such as:
- Pain – which is often the result of inflammation in the bones and joints
- Osteonecrosis – the death of bone tissue, the result of a disruption in its blood supply.
- Spontaneous fractures – Changes in bone structure lead to osteoporosis, which causes fractures.
Brain injury
In addition to damage to blood cells, bones, and internal organs, types 2 and 3 of Gaucher disease are characterized by neurological disorders.
In type 2, symptoms begin to develop in infants under 6 months of age. They often have skin defects at birth.
Type 3 Gaucher disease appears around the age of 10 and the condition worsens over time.
Neurological disorders in Gaucher disease types 2 and 3:
- Difficulty swallowing and developmental delay (type 2)
- Cognitive disorders
- Eye movement disorder
- Impaired motor skills and coordination
- Seizures, muscle cramps, involuntary movements
Who develops Gaucher disease?
Anyone can develop the disease, although type 1 Gaucher disease is more common in Ashkenazi Jews. Among Ashkenazi Jews, 1 in 450 people have Gaucher disease, and 10 in 1 carry the gene mutation.
Ancestry plays a less important role in the development of Gaucher disease types 2 and 3, and these forms occur equally in all ethnic groups.
Diagnosis
Diagnosis of Gaucher disease is based on anamnestic and laboratory data, which determines the need for genetic testing.
Carrier status of the mutation that causes Gaucher disease can be determined through carrier screening tests. Carriers of the recessive mutated gene do not have symptoms.
Treatment
In some cases of the disease, regular therapy can stabilize the condition – by increasing enzyme levels or lowering lipid levels in the body. There is no treatment for neurological disorders that develop in types 2 and 3 of the disease.
Treatment for type 1 Gaucher disease includes:
- Enzyme replacement therapy – via intravenous enzyme infusion, once every 2-3 weeks
- Antilipid treatment – requires continuous use of antilipid medications
Prevention
Since Gaucher disease is genetic, there is no way to prevent it. In cases of risk, it is important to determine whether you carry the disease-causing mutation and, if the mutation is detected, consult a geneticist for family planning purposes.
forecast
In type 1 Gaucher disease, continuous replacement therapy offers the opportunity to manage lipid accumulation, minimize the risk of complications, and prolong life.
In type 3 of the disease, permanent replacement therapy is necessary to reduce enzyme deficiency and lipid accumulation, although established lesions cannot be treated.
In type 2 of the disease, severe neurological and other complications develop in the first years of life, which are currently incurable.
When to see a doctor?
Carriers of the recessive gene mutation that causes Gaucher disease do not develop symptoms, however, screening tests for carrier status are recommended in cases of family history or the presence of certain risk factors, especially in specific ethnic groups.
Laboratory "Synevo" offers screening for genetic diseases:
Name of the test | Category | Price | CODE | Response time (working day) ** | Location of the analysis **** | Buy | hf:tax:product_cat |
---|
Source:
https://my.clevelandclinic.org/health/diseases/16234-gaucher-disease