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Gaucher disease: symptoms, causes and types

Gaucher disease: symptoms, causes and types

June 25, 2022

Lysosomal storage diseases are associated with a deficient functioning of certain enzymes, which causes lipids and proteins to accumulate in the cells.

In this article we will analyze Symptoms, causes and three types of Gaucher's disease , the most frequent of disorders of this kind, which affects multiple functions of the organism.

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What is Gaucher's disease?

Gaucher disease is a disorder caused by genetic mutations that are transmitted by autosomal recessive inheritance. It affects the blood, the brain, the spinal cord, the bones, the liver, the spleen, the kidneys and the lungs, and the severe forms of the alteration cause death or significantly reduce life expectancy.


It was described by Philippe Gaucher, a French physician specializing in dermatology, in the year 1882. Initially Gaucher believed that the symptoms and signs were manifestations of a specific class of spleen cancer; until 1965 the true underlying causes, related to biochemical and non-immune aspects, were not identified.

Gaucher disease belongs to a set of alterations that are known as "Lysosomal storage diseases" or "by lysosomal storage" , related to a deficit in the function of enzymes. It is one of the most common in this group, since it occurs in approximately 1 in 40 thousand births.


The prognosis of this disease depends on which of the three variants that exist we refer to. Type 1, the most frequent in the West, can be managed by enzyme replacement therapies and of reducing the concentration of the accumulated substances that cause the pathology, while the neurological signs of types 2 and 3 are not treatable.

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Symptoms and main signs

Gaucher disease causes alterations in many different organs and tissues, as well as in the blood; this explains the appearance of signs of varied character. A fundamental criterion in determining the severity of the disease is the presence or absence of neurological damage, which endangers life and significantly interferes with development.

Among the most common symptoms and signs and highlights of Gaucher disease we find the following:


  • Enlargement of the liver and spleen (hepatosplenomegaly) that causes inflammation of the abdomen
  • Pain in bones and joints, arthritis, osteoporosis and increased frequency of bone fractures
  • Anemia (decrease in the number of red blood cells) which causes fatigue, dizziness or headache
  • Increase the ease with which bruises form and bleed
  • Increased risk of developing diseases in the lungs and other organs
  • Yellowish or brown pigmentation of the skin
  • Brain injuries, altered brain development, apraxia , seizures, muscular hypertonia, abnormal eye movements, apnea, olfactory deficits (if there are neurological alterations)

Causes and physiopathology

Gaucher's disease appears as a consequence of a deficiency in the enzyme glucocerebrosidase , which is located in the membranes of lysosomes (cellular organelles that contain a large number of enzymes) and has the function of breaking down the fatty acids of the class of glucocerebrosides, as well as others of different types.

Alterations in the function of glucocerebrosidase mean that certain substances can not be adequately eliminated in lysosomes. Consequently they accumulate in the body, giving rise to the symptoms of Gaucher's disease. There are other disorders with similar causes, such as Tay-Sachs disease, Hunter disease or Pompe disease.

In the case of Gaucher's disease, these alterations are due to a genetic mutation that is transmitted by autosomal recessive inheritance . Therefore, to affect a person this must have inherited the genetic defect of both his father and his mother; if both parents present it, the risk of suffering from the disease is 25%.

The mutation that causes the symptoms varies depending on the variant of Gaucher's disease, but it is always related to the beta-glucosidase gene, which is located on chromosome 1 . We have found about 80 different mutations that have been grouped into three categories; to these we will dedicate the following section.

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Types of Gaucher disease

In general, Gaucher disease is divided into three types depending on the severity of the neurological disorders: type 1 or non-neuropathic, type 2 or acute neuropathic infantile and type 3 chronic neuropathic .

It is important to emphasize that the validity of this categorization has been questioned and accused of reductionism by various experts.

1. Type 1 (not neuropathic)

Type 1 is the most common variant of Gaucher's disease in Europe and the United States; in fact, approximately 95% of the cases detected in these regions are grouped in this category. The term "non-neuropathic" refers to the absence or mildness of central nervous system involvement .

In people with type 1 of Gaucher's disease, no alterations in brain development are observed, unlike what happens in types 2 and 3. The most notable symptoms include the sensation of fatigue, the enlargement of the spleen and the liver and the problems related to the bones.

2. Type 2 (acute neuropathic infant)

Acute neuropathic-type Gaucher disease in children is the most severe form of the disorder. Causes brain damage and irreversible neurological abnormalities , including the malformation of the brainstem, for which there is no treatment at present, and generally causes the death of the affected baby before he reaches 2 years.

3. Type 3 (chronic neuropathic)

Although the chronic neuropathic type is rare in Western countries, it is the most common variant in the rest of the world. The severity of type 3 is at an intermediate point between those of types 1 and 2 : causes the symptoms of class 1 but also some neurological alterations, and reduces the life expectancy to less than 50 years.


Being screened for Gaucher disease (June 2022).


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