Available disease-modifying therapies (DMTs) for Gaucher disease can decrease the levels of lyso-Gb1, a biomarker of disease burden, but levels remain significantly above the normal range in treated patients, a study found. “We speculate that the persistently increased lyso-Gb1 levels may have been driven by underlying mechanisms, such as…
There’s a kind of vulnerability in living with a chronic illness that isn’t talked about enough. It’s not just the big procedures; it’s the constant, quiet ways you’re asked to open yourself up. As someone with Gaucher disease, I feel it in every appointment, every explanation, every moment of…
Coexistent genetic conditions may contribute to unusual symptoms in people with Gaucher disease, potentially affecting disease progression and management, a study suggested. Researchers found that 17 Gaucher patients with atypical symptoms all had other genetic conditions, showing that understanding genetic factors is important for developing personalized treatments. “This study reframes…
