A Diet for Gaucher Disease: Foods to Include and Avoid

What is Gaucher Disease?

Glucocerebroside, a sphingolipid also known as glucosylceramide, accumulates in cells and some organs in Gaucher’s disease (/oe/) (GD), a hereditary condition. The hereditary lack of the enzyme glucocerebrosidase, also known as glucosylceramidase, which works on glucocerebroside, results in the condition, which is characterized by bruising, exhaustion, anemia, low blood platelet count, and enlargement of the liver and spleen. Glucocerebroside increases when the enzyme is damaged, especially in macrophages and white blood cells (mononuclear leukocytes, which is often a target for intracellular parasites). The spleen, liver, kidneys, lungs, brain, and bone marrow can all accumulate glucosylcerebroside.

Swollen lymph nodes and (rarely) adjacent joints, a distended abdomen, a brownish tint to the skin, anemia, a low blood platelet count, and yellow fatty deposits on the white of the eye are just a few possible symptoms. Other symptoms may include enlarged spleen and liver, liver dysfunction, painful skeletal disorders or bone lesions, severe neurological complications, swelling of lymph nodes and (occasionally) adjacent joints, and swelling of lymph nodes (sclera). People who are extremely ill may also be more prone to infection. Enzyme replacement therapy may be used to treat some types of Gaucher’s disease.


Gaucher Disease

Types of Gaucher disease

  • Gaucher disease type 1

Type 1 Gaucher disease is the most prevalent variety of illnesses. This form is present in 90% of those who have the illness. The degree of severity of these symptoms and indicators can vary. The symptoms could not show up until adulthood or they might. This variety is occasionally referred to as non-neuronopathic, indicating that the disease does not impact nerve cells, because the brain and spinal cord, or central nervous system (CNS), are often not harmed by the illness.

  • Gaucher disease type 2 (acute neuronopathic form)

Neuronopathic Gaucher disease is the name given to this uncommon form of Gaucher disease, which affects the neurological system. Seizures, issues with how your eyes move, and brain damage are all signs and symptoms. Extremely serious Type 2 Gaucher disease frequently causes illnesses that are life-threatening and start in infancy.

  • Gaucher disease type 3 (chronic neuronopathic form)

Type 3 Gaucher disease affects the nervous system in a similar manner as Type 2 Gaucher disease, although the symptoms do not advance as quickly. Infants and young children may experience the signs and symptoms.

  • Type 4 Perinatal lethal Gaucher disease

The most severe type of Gaucher illness is perinatal fatal Gaucher disease. With this kind of, potentially fatal problems may develop before delivery. The foetus (hydrops fetalis) may expand excessively and accumulate fluid before delivery. Severe neurological impairments, unusual facial features, hepatosplenomegaly, and dry or scaly skin are possible additional symptoms. The majority of newborns with this type of disease barely survive a few days after delivery.

  • Type 5 Cardiovascular Gaucher disease

The heart is largely affected by this type of Gaucher disease, which is regarded as a rare subset of type 3 disease and results in the calcification or hardening of the heart valves. There may occasionally be additional Gaucher disease symptoms and indications.

Symptoms of Gaucher Disease

The following are the primary Gaucher disease signs and symptoms:

  • Anemia (low red blood cell count) (low red blood cell count)
  • Fatigue (tiredness) (tiredness)
  • Low platelet count, which can make bruising more likely
  • spleen and liver growth (hepatosplenomegaly)
  • Larger Liver, Lung Issues
  • abnormalities of eye movement
  • eyes with yellow spots
  • Simple bleeding that is challenging to stop
  • Bone crises or excruciating bone pain sometimes accompanied by fever, as well as the potential for easily fractured bones

People with type 1  disease frequently experience bleeding and bruising due to low platelet counts, anemia, or painless splenic enlargement as their first symptoms. The energy needed to support the expanding spleen might cause the spleen enlargement to become severe and impede a child’s growth. Additional telltale signs include an enlarged liver and abnormal liver function tests. Gaucher disease frequently affects the skeleton, which can result in bone discomfort, bone fractures, and a thigh bone deformity (femur).

Food to avoid in Gaucher Disease


A prior study from 2007 found that individuals with thyroid dysfunction have a greater incidence of Celiac disease than does the general population. This might have some genetic component to it. Foods with gluten may make therapy more challenging. a Reliable Source for those with Graves’ disease and other autoimmune thyroid disorders. Gluten is present in many foods and beverages. It’s crucial to read labels and keep an eye out for substances that contain gluten. These consist of:

wheat and wheat-based products

  • Triticale
  • Rye
  • Barley
  • brewer’s yeast

Consuming iodine

There is some data that suggests that elderly folks or those with thyroid conditions who consume too much iodine may develop hyperthyroidism. Getting the proper quantity of iodine is crucial for maintaining health because it is a micronutrient. With your doctor, go through how much iodine you require.

Foods enriched with iodine include:

  • dairy goods
  • such as milk
  • Cheese
  • yogurt
  • salt bread

Staying away from meat and other animal goods

According to one study, vegans have a lower incidence of hyperthyroidism than people who eat meat and other animal products. According to the study, those who abstained from eating any animal products, such as meat, poultry, pork, and fish, benefited the most.

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What is the treatment for Gaucher disease?

Although there is no known cure for Gaucher’s disease, there are effective medication options. The main form of treatment for patients with type 1 Gaucher disease as well as for the non-neurologic symptoms of type 3 Gaucher illness is enzyme replacement therapy (ERT). The medication is administered intravenously, often every two weeks. Imiglucerase (Cerezyme), velaglucerase alfa (VPRIV), and taliglucerase alfa are the three ERT medications that are currently accessible (Elelyso).

Drugs that prevent the generation of the sphingolipids that build up in cells and produce symptoms are also available to treat Gaucher’s disease. These medications referred to as glucosylceramide synthase inhibitors are administered orally. Miglustat (Zavesca) and eliglustat are two medications in this class (Cerdelga).

The ailment used to frequently be treated surgically by removing the spleen (splenectomy). Given the availability of ERT, this is often not necessary.

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