5 Facts About Enlarged Liver And Spleen – Gaucher disease is a rare inherited metabolic disorder, in which a deficiency of the enzyme glucoserebrosidase causes the accumulation of dangerous amounts of certain fats (lipids), particularly glycolipid glucoserebrosides throughout the body, especially in the bone marrow, spleen, and liver.
Based on information from the National Organization for Rare Disorders (NORD), Gaucher’s disease is categorized as a lysosome storage disorder (LSD). The lysosome is the main digestive unit in the cell. The enzymes in lysosomes break down or digest nutrients, including certain complex carbohydrates and fats.
In Gaucher’s disease, certain fats that contain sugar (glucose), known as glycolipids, abnormally accumulate in the body due to a deficiency in the enzyme glucoserebrosidase.
This accumulation or storage of lipids causes various symptoms associated with lysosome storage disease. Gaucher disease is the second most common type of lysosome storage disorder after Fabry disease.
According to information from the National Gaucher Foundation (NGF), Gaucher disease can affect anyone and occurs in 1 in 40,000 live births in the general population. In addition, it is also said that this disease is more common in the Jewish population of Ashkenazi (Eastern European) descent, and occurs in about 1 in 450 in this population. As many as 1 in 10 of the population may carry the mutated gene responsible for Gaucher disease.
1. Causes of Gaucher’s disease
Humans usually have two copies of a gene that tells the body to produce the enzyme glucoserebrosidase and both copies are working correctly. Gaucher’s disease occurs when the two copies are damaged.
If only one copy is damaged, then the person will not develop Gaucher disease, because one functioning gene can produce enough enzymes.
A person with one faulty gene will not get sick, but they do become carriers and can pass the gene on to their children. A carrier can pass genes, but not necessarily the disease.
2. Gaucher’s disease is of three types
Type 1: is the most common type of Gaucher disease. This type affects about 90 percent of patients with this disease. In this type, the patient does not have enough platelets in his blood. This can make the person bruise easily and feel very tired. Symptoms of this type can start at any age. People with this type of Gaucher disease may have an enlarged liver or spleen. In addition, they may also have kidney, lung, or bone problems.
Type 2: this type affects babies aged 3 to 6 months. This type is very fatal. In most of the cases identified, children did not live more than the first 2 years of life.
Type 3: Symptoms of this type include bone problems, impaired eye movement, seizures that become more pronounced over time, blood disorders, breathing problems, and enlarged liver and spleen.
3. Enlarged liver and spleen are common symptoms of Gaucher’s disease
The symptoms of Gaucher’s disease vary from person to person. However, many patients develop symptoms of the disease from childhood.
In addition, some patients may experience mild symptoms, while others have more severe symptoms.
Symptoms of Gaucher’s disease include:
- Enlarged spleen
- Enlarged heart
- Eye movement disorders
- Yellow spots on the eyes
- Lack of healthy red blood cells or anemia
- Extreme fatigue
- Lung problems
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4. Gaucher disease can cause growth retardation and puberty in children, joint pain, and Parkinson’s disease
Gaucher’s disease is a progressive disease that is, it develops gradually. The complications of this disease depend on the type of symptoms experienced by the patient and how severe the symptoms are.
- Delays in growth and puberty in children
- Gynecological and obstetric problems
- Parkinson’s disease
- Cancers such as myeloma, leukemia, and lymphoma
- Weak bones
- Bone pain
- Joint pain
- Brain damage
- Lack of healthy red blood cells (anemia)
- Trouble walking or getting around
- Extreme fatigue
5. Diagnosis of Gaucher’s disease
If the patient shows signs and symptoms of Gaucher’s disease or has a family history of the disease, the doctor will refer the patient to a genetic specialist. In addition, blood tests can also identify low levels of glucoserebrosidase.
However, this test is not completely reliable, because the entire range of genetic mutations that may be associated with Gaucher disease is not yet known. Genetic testing for these four mutations is between 90 percent and 95 percent accurate in diagnosing Gaucher disease in the Ashkenazi Jewish population, and 50 percent to 60 percent accurate in the general population.
A genetic test combined with an enzyme test will aid in the accurate diagnosis of Gaucher disease. If a woman with one of the wrong genes is pregnant, prenatal testing can help predict whether the fetus is likely to have the condition. Prenatal examinations that your doctor will likely perform include:
Amniocentesis, tests the cells in the amniotic fluid
Chorionic villus sampling (CVS), examines the tissue from the placenta
Genetic testing prior to conception can predict a partner’s chance of having a child with Gaucher’s disease. In addition, those who have a family history of Gaucher disease and are of Ashkenazi Jewish descent should also ask about genetic counseling about the possibility of developing this genetic disease.