What is Gaucher Disease?
Gaucher disorder is an inherited disorder that results from the deficiency of an enzyme responsible for breaking down a fatty substance within the organelles of cells, called lysosomes. Low levels of an enzyme (glucocerebrosidase) allow lipid-laden cells, called Gaucher cells, to build up in tissues like the spleen, liver, and bone marrow, resulting in inflammation, immune dysfunction, and progressive organ involvement.
How to diagnose?
A simple blood test showing a low level of enzyme activity followed by DNA sequencing will help physicians diagnose the disorder accurately. Invasive procedures such as bone marrow aspiration and biopsy or splenectomy are not required to confirma the diagnosis.
What is the treatment?
Enzyme replacement and oral substrate reduction therapies are the available treatments for GD1. More treatment options are in the pipeline, including gene therapy. Appropriate care and adjunct therapies will lead to the alleviation of symptoms and improvement of quality of life.
Gaucher Disease
Type 1
The most common form of the disorder is more prevalent in individuals of Ashkenazi Jewish origin. It does not primarily affect the brain. This type has a broad spectrum of severity and presentations. Some individuals may remain symptom free or develop only mild symptoms.
Symptoms include: Spleen and liver enlargement, bone problems, fatigue, swollen stomach, easy bruising, tiredness, bone pain, easily broken bones, and nosebleeds.
Type 2
It affects newborns and infants, and babies present with rapid neurological complications.
Symptoms include: Poor growth and development, crossing of the eyes, seizures, spasticity, jerking movements, inability to suck and swallow, breath holding and cyanotic spells, enlarged liver and spleen.
Type 3
The severity of organ involvement is more pronounced than Type 1 GD. Children may develop progressive neurological involvement with seizures, cognitive problems, and progressive kyphoscoliosis.
Symptoms include: Significant enlargement of the liver and spleen in early childhood, failure to gain weight and growth, nosebleeds, easy bruising, paleness, slowing of the horizontal eye movements, cognitive problems, poor coordination, respiratory problems. The bone disease is progressive with spine and chest deformities.
Gaucher Disease (Type I, II,II) Read More
30% of Rare Disorders
Listlessness
Weightloss
Bone problems
Liver and spleen issues
*See details for each type
