GAUCHER-SCHLAGENHAUFER

Overview and Facts

Gaucher-Schlagenhaufer is caused by an overgrowth of particular fatty substances, mainly in your liver and spleen, in particular organs. These organs may expand as a result, which may change how they work.

The buildup of fatty substances can potentially harm bone tissue and make fractures more likely. If the bone marrow is damaged, your blood’s ability to clot may be affected.

An enzyme that burns down these fatty molecules does not operate properly in people with Gaucher-Schlagenhaufer. Treatment typically involves the use of enzyme replacement therapy.

Types and Symptoms

TYPES

  • Gaucher disease type 1. This affects the spleen, liver, blood, and bones and is the most prevalent kind in the United States. 
  • Gaucher disease type 2: This is an uncommon variant that affects infants younger than six months. 
  • Gaucher disease type 3: This is the most prevalent form that manifests before the age of ten and leads to neurological (brain) issues as well as bone and organ abnormalities. 

SYMPTOMS

Gaucher-schlagenhaufer disease comes in various types, and even within a single type, the disease’s indications and symptoms can range significantly. The symptoms differ from person to person. Other people’s symptoms may result in critical health issues and even death. 

These symptoms may include the following:

  • Skeletal abnormalities
  • Abdominal problems
  • Blood disorders 

Gaucher disease types 2 and 3 neurological symptoms include:

  • Developmental delays and difficulties with feeding.
  • Cognitive difficulties
  • Issues with the eyes, particularly when shifting them side to side.
  • Coordination and gross motor skill issues.
  • Seizures, spasms of the muscles, and jerky, rapid movements.

Diagnosis & Medications

DIAGNOSIS

Your doctor will apply pressure on the abdomen of you or your child during a physical examination to measure the size of the liver and spleen. The doctor will assess your child’s weight and height to establish growth charts to discover if they have Gaucher disease.

Additionally, he or she might suggest particular testing such as:

  • Imaging tests
  • Prenatal and preconception testing
  • Lab tests

TREATMENT

Although there is no specific remedy for Gaucher-schlagenhaufer, there are a number of options that can assist manage symptoms, hinder long-term damage, and boost quality of life. Some individuals don’t require treatment since their symptoms are so mild. 

Your doctor will probably advise regular checkups to look for illness progression and problems. The form of the disease and your circumstances will determine how frequently you need to be monitored.

  • Medications
  • Surgical and other methods

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