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Gucher disease; Types, symptoms, methods of diagnosis and treatment

Study guide

Gutcher’s disease is a rare genetic disorder that is passed from parent to child. People with this disease do not have the enzyme to break down lipids, or fat-making substances. As a result, lipids accumulate in certain organs, such as the spleen, liver, or bone. Accumulation of lipids in the bone will weaken the bone and increase the chance of fracture. What causes gout? What are its types? How can this disease be diagnosed and treated? Follow us to the end of the article to answer these questions.

The cause of Gucher disease

In answer to what is the cause of Gucher disease, it should be said that this disease is an inherited disease that is transmitted from parent to child and the cause is a defect in the GBA gene. It is an autosomal recessive disorder, meaning that a defective gene must reach a child from both parents before the disease can be seen. If the parent has the GBA gene, he or she has no symptoms but carries the disease. Gutcher’s disease can have different symptoms. The spleen and liver may become very large and not function normally. In addition, gout can affect a patient’s lungs, brain, eyes, and bones.

Types of gout

There are three main types of gut disease, each of which is described below.

1. Gucher type 1

The most common type of disease is gout and it affects about 90% of people with gout. In this type of disease, there is not enough platelets in the blood, so the person easily bruises and feels extremely tired. Symptoms can occur at any age, and a person may have a large spleen or liver. The patient may also have kidney, lung or skeletal problems. Gutcher type 1 is more common among Ashkenazi Jews because many of them carry the defective gene.

۲. Gucher type 2

The disease affects children from 3 to 6 months. This disease is fatal and usually the infected child does not live more than 2 years. These children do not gain enough weight and growth and suffer severe brain and spinal cord injuries.

3. Gucher type 3

It is similar to type 2, but it occurs at older ages and gets worse over time. The disease usually affects the brain and spinal cord and its symptoms include:

  • Skeletal problems;
  • Eye movement disorders;
  • Convulsions;
  • Blood disorders;
  • Respiratory problems;
  • Enlargement of the liver and spleen.

Other types of gutters

  • Lethal fatal around childbirth: This is the most severe type of disease. An infected baby usually only survives a few days. Symptoms include high birth weight due to fluid accumulation in the abdomen, dry skin, enlarged liver and spleen, and severe brain and spinal problems.
  • Cardiovascular gout: It is a rare disease that affects the heart. Symptoms include hardening of the heart valves and blood vessels, bone disease, enlarged spleen, and eye problems.

Symptoms of gout

These symptoms vary from person to person. In some people, the symptoms start in childhood and in others, the symptoms are mild. Symptoms of the disease include the following:

  • Convulsions;
  • Bruising;
  • fatigue;
  • Enlarged liver;
  • Pulmonary problems;
  • Muscle stiffness;
  • Enlarged spleen;
  • Enlargement of the abdomen;
  • Yellow spots in the eyes;
  • Eye movement disorders;
  • Anemia or lack of healthy enough red blood cells.
Bone marrow involvement can impair the ability of blood to clot.

Diagnosis of gout

In addition to a physical exam, you and your family have a medical history and a blood or saliva test. The disease has very different symptoms, so it may take time to make an accurate diagnosis. Your doctor may also look at the size of your baby’s abdomen, spleen, liver, and weight and height, and use MRI imaging and genetic counseling to diagnose the condition.

Treatment of gout

There is no cure for gout, but the symptoms can be controlled. This treatment varies depending on the disease and can include the following:

  • Enzyme replacement therapy and the use of drugs such as imigloserase, taligloserase and velagloserase which are effective for types 1 and 3;
  • Use of drugs such as miglostat to interfere with fat products, oliglostat to inhibit the production of fat products and osteoporosis;
  • Surgery to remove all or part of the spleen;
  • Regular physical examinations and checking of bone density;
  • Joint replacement surgery;
  • bone marrow transplant;
  • blood transition.

Complications of Gucher disease

This disease can have the following complications:

  • Growth retardation;
  • Puberty delay;
  • Joint pain;
  • Brain damage;
  • Bone weakness;
  • fatigue;
  • Parkinson’s disease;
  • Difficulty walking or dodging;
  • Cancers such as myeloma, leukemia and lymphoma;
  • Problems with obesity and obstetrics;
  • Deficiency of healthy red blood cells (anemia).

Prevention of gout

If the disease is common in your family, talk to a genetic counselor. He or she will assess if you and your child are likely to get the disease. ارزیابیAssessing the siblings of a person with gout also helps in diagnosing their disease early.

When to see a doctor?

See your doctor in the following cases:

  • Convulsions;
  • Fatigue;
  • Reduced mobility;
  • Feeling confused;
  • Respiratory problems;
  • Abnormal bone fracture or bone pain.

Talk to your doctor if you have new symptoms of joint pain and seizures, and tell your doctor if treatment does not help reduce the symptoms. Your doctor may also ask about bruising, bleeding, bloating, and other symptoms you may have.

Living with Gucher

People with gout should pay special attention to these points:

  • Follow your doctor’s advice;
  • Timely use of medications;
  • Continue treatment sessions.

You say

It is difficult to have chronic diseases and it is harder to have a rare disease like gout. However, few people are familiar with the disease and understand the condition of the person with gout. How familiar are you with Gutcher’s disease ‌ What other points can you add to this article ‌? ‌ If you wish, you can share your experience and opinion with us in the comments section and send this article to your friends through social networks. Learn more about this rare genetic disease.

Warning! This article is for educational purposes only and you need to consult your doctor or specialist to use it. more information






Gucher disease; Types, symptoms, methods of diagnosis and treatment

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