Having access to supportive care is important for Gaucher disease patients as there is no definitive cure. There are several treatment approaches that can alleviate symptoms; supportive care by way of regular monitoring can go a long way toward improving patients’ quality of life.

Identifying Gaucher disease specialists

If Gaucher disease is confirmed, it is important to consult a clinician who specializes in its treatment as the implications can be severe if the disease is not treated properly. Gaucher disease specialists come from diverse clinical backgrounds. The National Gaucher Foundation recommends that Gaucher disease specialists meet criteria such as having actively treated at least 10 patients with Gaucher disease and having researched the disease for at least five years.

Gaucher disease specialists can personalize long-term care and monitoring while also taking into account the hereditary aspects of the disease.

Monitoring and treating bone health

The skeletal system is often affected in Gaucher disease patients because of the infiltration of cells with excess glucocerebrosidase (the molecule that accumulates to toxic levels inside cells because of the disease) into the bone marrow.

Imaging tests, especially magnetic resonance imaging (MRI), can help identify the extent of bone damage and assess how well the bones are healing with enzyme replacement therapy (ERT) or substrate reduction therapy (SRT). Restoration of normal bone mineral density can take as long as eight years under continuous administration of ERT. Medications such as bisphosphonates can help increase bone density.

Sometimes, orthopedic surgery might be required if joint damage or fractures are observed, or if there are any issues with mobility. To ease pain, non-steroidal anti-inflammatory drugs (NSAIDs) can be administered. Opioids may also be prescribed if bone pain is very severe.

Monitoring and treating liver and spleen volume

Enlargement of the liver and spleen (hepatosplenomegaly) is a common symptom of Gaucher disease. Regular administration of ERT should help in bringing the liver and spleen back to their normal size within six months. A partial or total splenectomy might be prescribed in extreme cases. Liver transplantation might be required if liver function is found to be severely impaired.

The size of the liver and spleen must be assessed every 12 to 24 months if the patient is not undergoing ERT. Even if the size of the organs has returned to normal during ERT, an annual assessment is required. The dosage of ERT might need to be altered if no significant change in liver and spleen size are observed.

Monitoring and treating neurological aspects

Type 2 and type 3 Gaucher disease are neuronopathic variants for which SRT is a better therapeutic option than ERT as enzymes cannot cross the blood-brain barrier. Regular monitoring of neuromotor functions such as eye movement, speech, eating, posture, hand grip, and reflexes is needed to assess the effect of SRT. SRT might also be used in conjunction with ERT depending on symptom severity.

It is important to monitor these neuronal functions every six months whether the patient is on ERT or not.

Networking with other Gaucher disease patients and help groups

There are many resources that can offer support, advice, and information for Gaucher disease patients. Networks such as the Caregiver Action Network, E-Pal Connection Program, and Lysosomal Disease Network offer great opportunities to network with patients and clinicians to get support, medical advice, and information.


Gaucher Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.