Gaucher Disease (Gaucher Syndrome)

Gaucher’s disease is one of the most common lipid storage diseases and is due to a genetic deficiency in the enzyme glucocerebrosidase. In a large number of cases, the disease can be treated with enzyme replacement therapy, which causes a regression of the symptoms characteristic of Gaucher disease.

Gaucher Disease (Gaucher Syndrome)

What is Gaucher disease?

Gaucher disease (Gaucher syndrome) is a genetically determined fat metabolism disorder that is caused by a deficiency in the enzyme glucocerebrosidase. As a result of the degradation disorder caused by this, increased glucocerebroside accumulates in the organism, especially in the reticulum cells (fibroblasts in the connective tissue), which leads to an enlargement of the affected organs. See homethodology for CRPS Overview.

Gaucher disease is divided into three forms, which differ in terms of symptoms and course. The visceral or non-neuronopathic form is primarily characterized by organic impairments such as enlarged liver and spleen (hepatosplenomegaly), anemia (anemia), bone and joint disorders and coagulation disorders.

In the presence of acute neuropathic Gaucher disease, those affected also show damage to the nervous system. This form of the disease has a severe and strongly progressive course and leads to death in the first years of life. The chronic neuropathic form is characterized by a weakly progressive course with manifestations later in life.


Gaucher disease is an autosomal recessive inherited deficiency of the enzyme glucocerebrosidase, which is due to mutative changes in the genome. Glucocerebrosidase is an enzyme that aids in the breakdown of glucocerebroside, a fatty component produced by the breakdown of used blood cells.

The cells of those affected by Gaucher’s disease are not able to produce this enzyme in sufficient quantities or produce glucocerebrosidase in reduced quality. As a result, there is an accumulation of glucocerebroside in the macrophages (scavenger cells).

The macrophages accumulate with the undigested glucocerebroside mainly in the spleen, liver and bone marrow and cause the organ enlargement typical of Gaucher disease, which restricts the function of the affected organs.

Symptoms, Ailments & Signs

Gaucher disease can occur in three different forms, each with different symptoms. The mildest form of the disease is type I with a non-neuronopathic course. Type II characterizes the acute neuronopathic course, while type III of the disease represents the chronic neuronopathic course. With type I Gaucher disease, the first symptoms usually do not appear until adulthood. In contrast to the other forms of the disease, no neurological symptoms occur here.

However, the internal organs are affected. The spleen in particular enlarges and causes such complaints as enlarged abdomen, upper abdominal pain and constant feeling of satiety. At the same time, the blood cells are broken down more quickly and blood formation in the bone marrow is impeded.

This results in increasing anemia, which manifests itself in tiredness and exhaustion. The immune system is weakened by the lack of white blood cells. Blood clotting is also reduced because too few platelets are formed. There is also deformation of the bones, increased fractures and frequent infections.

Bone pain, chronic joint pain and circulatory disorders are also among the possible symptoms of the non-neuronopathic form. In type II Gaucher syndrome, the disease begins in infants with severe symptoms that can be traced back to nerve breakdown processes.

Increasing brain damage leads to swallowing difficulties and severe seizures. Death occurs within two years. In the chronic neuronopathic form, slow nerve degradation processes take place with progressive mental degradation, movement disorders, behavioral problems and increasing seizures.

Diagnosis & History

Gaucher disease is diagnosed on the basis of the symptoms characteristic of the disease, such as enlarged spleen and liver (hepatosplenomegaly), bone and joint pain, spontaneous fractures, decreased muscle tone, anemia, symptoms of fatigue, seizures and changes in the fundus (white spots).

The diagnosis is confirmed by a blood test and an enzyme test, in which the enzyme activity in the leukocytes or fibroblasts is determined. If an increase in phosphatase and a reduced concentration of glucocerebrosidase in the blood are detected and Gaucher cells can be detected in the bone marrow, the diagnosis is considered confirmed.

If therapy is started in good time in the visceral and chronic neuropathic form of Gaucher disease, slowing down of the progressive course of the disease and alleviation of the symptoms can be expected in most cases. The acute neuropathic form, on the other hand, has a strongly progressive course and those affected by this form of Gaucher disease often die in early childhood.


First and foremost, Gaucher’s disease leads to a severe enlargement of the spleen. This can also lead to pain, which can significantly reduce the patient’s quality of life. In most cases, patients also suffer from abdominal enlargement and abdominal pain.

In addition to the pain, there is also a loss of appetite, which can further lead to malnutrition or a lack of nutrients. Anemia also promotes exhaustion and fatigue in the patient. The quality of life is significantly reduced by Gaucher disease. Pain in the joints or seizures can also occur and make everyday life difficult for those affected.

It is not uncommon for very young children in particular to die from the symptoms of this disease, which can lead to psychological problems or depression in the parents and relatives of the patients. Treatment of this disease can take place with the help of infusions and other drugs.

Complications usually do not arise. However, it is not possible to completely limit Gaucher’s disease, so that in most cases patients are dependent on lifelong therapy. Whether there is a reduction in life expectancy depends heavily on the treatment and the severity of this disease.

When should you go to the doctor?

In the case of the hereditary fat storage disease Gaucher disease, those affected must reckon with the fact that this rare enzyme defect will be misdiagnosed several times. Currently only about 2,000 patients are registered with it in Germany. Therefore, every trip to the doctor that becomes necessary due to this genetic defect is initially a problematic trip. The fact that the symptoms are different for each person is already difficult.

People who are affected by Gaucher’s disease often become ill as children. Some sufferers have hardly any symptoms. As a result, you don’t visit a doctor. In the event of a precarious complaint due to the enzyme defect, a specialist should be consulted. There are enough tests and symptom lists on the Internet to make a corresponding comment to the doctor if Gaucher disease is suspected. This tip is probably the trigger for a blood test.

There is no cure for Gaucher disease. However, it can be easily treated with enzyme replacement therapy or substrate reduction therapy. Therefore, after the diagnosis has been made, those affected have to go to a designated Gaucher center several times to initiate appropriate treatment. In addition, regular check-ups at intervals of three to six months are necessary.

The necessary examinations should be carried out in a clinical Gaucher center. The enzyme replacement therapy is also started here as an infusion therapy. Later, the family doctor can take over further treatment.

Treatment & Therapy

In principle, there are two forms of therapy available for Gaucher disease: enzyme replacement therapy (enzyme replacement therapy – EET) and substrate reduction therapy. Because Gaucher disease is caused by an enzyme deficiency, treatment focuses on eliminating this deficiency through enzyme replacement therapy.

Here, genetically engineered glucocerebrosidase (recombinant imiglucerase) is infused intravenously. Since the modified enzyme substrate has a relatively long half-life, two-week infusions are sufficient. The substrate is taken up by the macrophages and can thus catalyze the breakdown of glucocerebroside. Enzyme replacement therapy is the standard therapy for the non-neuronopathic and chronic neuropathic form of Gaucher’s disease and causes a gradual improvement in the symptoms characteristic of Gaucher’s disease.

In addition, with a mild course of Gaucher’s disease, a therapeutic approach is pursued in which the accumulation of glucocerebroside is partially inhibited by the orally administered active ingredient miglustat (substrate reduction therapy). Due to severe side effects, this drug is only used in those affected by Gaucher disease for whom enzyme replacement therapy is not indicated.

In addition, accompanying measures can be taken that contribute to the reduction or elimination of the respective symptoms. For example, if the bones are severely damaged, additional orthopedic measures up to and including a joint replacement may be necessary.

Outlook & Forecast

Without treatment, all types of Gaucher disease show a slowly progressive course. With treatment, the prognosis depends on the type of disease present. Type I Gaucher disease is usually easily treatable with early and timely therapy. The quality of life here is primarily impaired by the bone and joint changes. During childhood, growth disorders and bone crises are often the focus. Some sufferers require a wheelchair after broken bones (fractures) and necrosis of the femoral head.

In contrast, in Gaucher disease type II (acute neuronopathic form), the prognosis is poor due to the pronounced involvement of the nervous system. Despite treatment, most affected children die within the first two years of life. Type III Gaucher disease (chronic neuronopathic form) is treatable, but can be associated with noticeable mental impairments and a limited life expectancy. However, there is not enough data from clinical studies for this type so that a conclusive assessment is not possible.

All those affected by Gaucher’s disease have an increased risk of bleeding complications and ruptures of the spleen (spleen ruptures) throughout the course of the disease. A definitive cure can only be achieved through gene therapy. Fetal gene therapy for type II has been successfully carried out by British researchers, at least in mice. It is not yet possible to say whether and when such a therapy will be available to those affected by Gaucher disease.


Since Gaucher’s disease is a genetic lipid storage disease, it cannot be directly prevented. However, as part of a heterozygote test and prenatal diagnostics, it can be checked during pregnancy whether the child will be affected by Gaucher disease.


As a genetic disease, Gaucher disease has not yet been cured. Those affected are dependent on taking medication for life. Once patients have received a diagnosis and are ready for therapy, regular follow-up is required to monitor the success of the treatment. As a rule, the doctor calls in those affected to have their blood drawn once a quarter in order to check the most important values.

Depending on the severity of the disease and its course, thorough examinations in a specialized Gaucher competence center are also required every six to twelve months. Depending on the type and stage of the disease, the disease can lead to severe pain and movement disorders and signs of paralysis. Experts advise keeping a pain diary and beginning pain therapy in order to largely maintain quality of life.

In addition, exercises that can be easily integrated into everyday life help to improve and maintain mobility. In principle, a healthy and balanced diet is also highly recommended for Gaucher syndrome. There is an increased need for calcium and iron.

Dairy products and oatmeal, lentils or broccoli are therefore a valuable part of the diet. If your condition allows it, regular exercise is also useful. However, those affected should avoid contact sports, as there is an increased risk of a ruptured spleen with this disease.

You can do that yourself

Gaucher disease patients can do a lot themselves to improve their quality of life. Actively coping with the disease and dealing with the disease on your own responsibility strengthen self-confidence. Those affected do not get into a depressive downward spiral so quickly. It is important to first accept the illness. Rebelling against it only costs unnecessary strength.

It is also advisable to research as much as possible about the clinical picture. The more knowledge there is, the smaller the fear and uncertainty. Open questions can be discussed with the trusted doctor. It is also advisable to join a self-help group. In exchange with other patients, those affected feel understood and no longer so lonely. It is also advisable to seek psychotherapeutic help.

A healthy, balanced diet is generally recommended. Gaucher disease patients can benefit from this in a special way. Calcium strengthens muscles and bones. Iron helps against anemia. Natural foods such as dairy and whole grain products, fish, spinach, nuts and legumes contain many times the required nutrients. In addition, dietary supplements can be taken to meet daily needs. Of course only after medical consultation.

Exercise can also have a positive effect on health. Most sports can be carried out without any problems. To be on the safe side, the doctor treating you should be consulted.