What is Gaucher Disease?
Gaucher disease 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 confirm 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 and small molecule therapy that can penetrate the brain. Appropriate care and adjunct therapies will lead to the alleviation of symptoms and improvement of quality of life.
This is the most common clinical type in US and 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.
It affects newborns and infants who 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, and enlarged liver and spleen.
On presentation, the severity of organ involvement may be 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, and respiratory problems. The bone disease is progressive with spine and chest deformities.
The most common Lysosomal Disorder in the US
Pain (bone pain)
Failure to gain weight or grow
Liver and spleen enlargement
Decreased platelet count
*See details for each type