Gaucher disease: causes, symptoms, treatment

Health SGNODLOL August 8, 2016 0 0
About one in fifty people affected by Gaucher disease. In this condition, large amounts of glucocerebroside hope located at, in particular in the spleen, liver, bone marrow, lung and sometimes in the brains. The condition is of a lysosomal diseases. There are three forms of Gaucher disease. Type 2 and 3 are more serious than type 1. What is the cause of Gaucher disease, what are the symptoms and what are the options for treatment. What is the prognosis?

Content Article

  • Gaucher's disease
  • Other names which are used for Gaucher's disease
  • Sick Gaucher, hereditary disorder
  • Forms of Gaucher disease
  • Cause of Gaucher disease
  • Symptoms of Gaucher disease
  • Diagnosis of Gaucher disease
  • Treatment and Prognosis of Gaucher disease
  • Substrate Inhibition
  • Gaucher Registry

Gaucher's disease

Gaucher disease is the lysosomal storage disease that occurs most frequently, at about one in forty to fifty thousand babies. In certain populations, the disease is more common, for example in Ashkenazi Jews. Gaucher disease is named after the French physician Philippe Charles Ernest Gaucher, he has inherited disorder first described in 1882.

Other names which are used for Gaucher's disease

  • Acid beta-glucosidase deficiency
  • Cerebroside lipidosis
  • Cerebrosidosis
  • Family Milt Anemia
  • Gaucher disease-Schlagenhaufer
  • Glucocerebrosidase deficiency
  • Glucocerebrosidosis

Sick Gaucher, hereditary disorder

Gaucher's disease is an autosomal recessive disorder. The glucocerebrosidase genes sit on an autosomal chromosome. Gaucher disease only occurs when both copies of the gene are mutated. Has anyone one defective gene and one normal gene than the one carrier of Gaucher disease. A carrier gets the disease but does have a 50 percent chance to pass on the defective gene to his or her children. Parents who are carriers, with each pregnancy have a probability of 75 percent in order to have a baby without Gaucher disease and a probability of 25 percent to obtain a child with Gaucher disease. The risk is the same for men and women.

Forms of Gaucher disease

There are three distinct forms of Gaucher disease, the difference between these forms must be sought in the presence or not of a brain disorder and the age at which first symptoms develop.
Gaucher disease type 1
  • The symptoms can arise at any age.
  • Symptoms are limited in most cases to the liver, spleen, and / or bones.
  • Type 1 never affects the brains.
  • Enzyme therapy and supportive treatments.

Gaucher disease type 2
  • Is less common than type 1 but is more serious.
  • Faster than type 3.
  • Affects the brains to.
  • Develops during the first year of life.
  • Supportive treatments.
Gaucher disease type 3
  • Is less common than type 1 but is more serious.
  • Slower than type 2.
  • Affects the brains to.
  • Reveals itself in childhood or in early adulthood.
  • Enzyme therapy and supportive treatments

Cause of Gaucher disease

A hallmark of Gaucher's disease is that there is too little beta-glucosidase is present. This is an enzyme that is necessary for the degradation of glucosylceramide. In particular, some cells of the spleen, liver and bone marrow are affected by the disorder. Especially the macrophages have to endure. The glucosylceramide that is not broken, will accumulate in the macrophages, they swell. The swollen macrophages are also known as Gaucher cells.

Symptoms of Gaucher disease

Accumulation of glucosylceramide may cause the following symptoms:
  • About 95 percent of people with Gaucher disease leads to the accumulation of Gaucher cells to splenomegaly: enlargement of the spleen. The spleen may be enormous, up to 25 times its normal size, this could seem like someone is very obese. But in addition to the 'beauty' aspect, the spleen is also hyperactive: the destruction of red blood cells is much faster, it may lead to anemia. Furthermore, platelets are destroyed. Someone is bleeding more quickly and bruising. Finally, destruction of white blood cells, this is a person susceptible to infections.
  • In 80 percent of cases, hepatomegaly, this is an enlargement of the liver. Magnification of this body can ensure that the liver cells are further affected, which can lead to liver cirrhosis.
  • If both spleen and liver are affected, it is called hepatosplenomegaly.
  • Deterioration of the bones: brittle bones, the risk of fracture is thus increased. Because the supply of blood is less, there may be a part of the bone withering away. This is also referred to as necrosis. Some bones may change shape: the flask-shaped deformity is common. Named after a kind of laboratory bottle, here, the shape looks like: advancing flat shape instead of a circular shape which is normal. Bone crises may occur if there is a sudden lack of oxygen occurs in the little area where Gaucher cells prevent the flow of blood. This makes for a very severe pain that occurs suddenly that do hours or even days may persist.
  • If a child is not treated with Gaucher disease, then the growth may be slower than normal. In girls, puberty often starts later and menstruation usually begins in the late teens.
  • Skin discoloration: yellow-brown. It may also be spots: flat, round, purple-red in color.
  • If the liver and / or spleen are enlarged, it may ensure that, for pressure on the stomach. This may result in that a person has very quickly feel full.
  • Intestinal problems.
  • Eyes can move jerky and erratic.
  • In type 2 and type 3 can occur seizures.
  • In type 2 and type 3: increasing problems with sucking and swallowing.

Diagnosis of Gaucher disease

An enzyme assay is most often used to make the diagnosis of Gaucher disease. Through a blood test determines the activity of the beta-glucosidase. For confirmation of the diagnosis is sometimes made a genetic test.

Treatment and Prognosis of Gaucher disease

Since 1991 enzyme replacement therapy available, a breakthrough. Someone who suffers from Gaucher disease gets life with regular breaks administered glucocerebrosidase. It can keep the symptoms in the hand and sometimes the symptoms disappear even. The sooner you can start treatment, the better the prognosis. Enzyme replacement therapy has little effect on the neurological problems. In the Netherlands, the treatment is reimbursed for people with Gaucher disease type 1 and type 3 Gaucher disease.
In addition to enzyme replacement therapy treatment is also aimed to ease the symptoms, think of bed rest, analgesics, anti-inflammatory agents. In severe anemia or platelet composition which is low, you can decide to partially or completely remove the spleen by surgery. This is called a splenectomy. The brain damage that you see in type 2 and type 3 is not reversible.
People with Gaucher disease type 1 basically have a normal life expectancy. Most children with type 2 will not be older than two years, this is due to the increasing neurological symptoms. In type 3, a person gradually more and more problems. Life expectancy depends on the pace at which these problems are announcing.

Substrate Inhibition

This is also a treatment, the production of the stapelingsvet is delayed. It can be given as a pill, so there is no need infusion. At this time, the preference goes out to treatment with enzyme therapy. A study of enzyme therapy in combination with substrate inhibition is ongoing.

Gaucher Registry

The Gaucher Registry has been around for more than ten years. It is a global information, but also a resource for physicians and the community of patients. One of the goals is to improve the treatment outcomes.