Type I Gaucher Disease

Common symptoms and physical findings of type 1 Gaucher disease include:

• Enlargement of the liver and spleen.
• Bleeding and bruising problems.
• Low blood counts (anemia).
• Extreme fatigue and lack of energy.
• Bone disease.
• Loss of appetite.
• Delayed puberty and skeletal maturation.

The severity and combination of symptoms can vary among people with type 1 Gaucher disease. The symptoms can affect different systems of the body and may start to appear at any time in life.

The diagnosis of type 1 Gaucher disease can take many years after the first signs. It is suspected in individuals who have anemia, easy bleeding and bruising, or organ enlargement (specifically, liver and spleen).⁵

Confirming a Gaucher disease diagnosis involves an enzyme test that helps identify individuals that may have Gaucher disease, as they typically have low glucocerebrosidase enzyme activity.⁵ If the enzyme test results show a small decrease, the individual will probably get genetic testing to detect mutations in the GBA gene. Genetic testing, which is done using blood or saliva samples, may confirm a diagnosis when used alongside enzyme testing. The enzyme test may not always detect carriers of the disease. ^3,4

Enzyme replacement therapy is the standard of care and involves supplying the patient with the deficient enzyme by intravenous infusion, typically every two weeks.⁵ Enzyme replacement therapy can prevent the progression of disease and often reverses its symptoms. Substrate reduction therapy involves medications taken by mouth that reduce the amount of fatty substances to prevent build up and provide another treatment option to enzyme replacement therapy for patients.⁴

The treatment of type 1 Gaucher disease is lifelong and requires routine monitoring for progression and complications. Patients with severe symptoms may require additional therapy, such as pain management, blood transfusions and bone marrow transplant.