At the American Society of Hematology Annual Meeting in 2020 (ASH 2020), the latest info and data related to Gaucher disease, a form of lysosomal storage disease, was presented. It is an illness that requires coordination between a team of physicians in order to manage it effectively. This info is critical for caregivers and professionals that are caring for people that are living with Gaucher disease. Click here to watch a 15 minutes summary video of this information.

About Gaucher Disease

Gaucher disease is a genetic disorder which is most characterized by the abnormal buildup of the substance glucocerebroside in different areas of the body. This buildup can lead to a variety of symptoms. The disease is caused by a genetic abnormality affecting the GBA gene, which is responsible for the normal function of the enzyme that normally breaks down glucocerebroside. Symptoms of Gaucher disease include enlarged spleen and liver, discolored skin, anemia, increased risk of infection and bleeding, osteoporosis, reduce sense of smell, impaired cognition, severe joint and bone pain, muscle twitches, dementia or intellectual disability, apnea, and convulsions. Neurological symptoms vary depending on the type of disease present. Gaucher disease patients are also more likely to have Parkinson’s disease. Therapies for Gaucher include enzyme replacement therapy, Miglustat, and Eliglustat. To learn more about Gaucher disease, click here.

The Latest Research

While hematologists may be the lead caregiver for Gaucher disease, the full care team may include experts in other fields such as rheumatology, genetics, orthopedics, and bone metabolism. Diagnosis can be a challenge in this disease as symptoms can vary and onset may begin at different ages. A study was presented at ASH 2020 that focused on developing a machine learning approach in order to speed up diagnosis. Earlier diagnosis could have significant improvement in outcomes for patients.

Another study focused on screening for the disease in high-risk populations, following up on an earlier study published in 2016. This high-risk group had symptoms of splenomegaly and thrombocytopenia that could not be attributed to other conditions. 

While Gaucher patients face an increased risk of blood cancer, other cancers, such as melanoma, liver cancer, and renal cancer are more likely to appear as well. Rates of monoclonal gammopathy of undetermined significance (MGUS) are also unusually high in these patients. Cancer screening can be an important part of monitoring in Gaucher patients.

Parkinson’s disease is also associated with Gaucher. A study found that some other neurological problems were linked to the illness as well, such as sensorineural hearing loss, anxiety/depression, excessive daytime sleepiness, and cognitive problems.