Since the existence of treatments for Gaucher Disease (GD), patients have improved overall survival and quality of life. Read more about the latest findings from our working groups around the world.
With aging, patients with stable GD may develop other common cardiovascular risk factors, such as hypertension and metabolic syndrome; these factors are a target for dietary and lifestyle interventions intending to prevent comorbidities.
Skeletal manifestations constitute a significant cause of morbidity in patients with GD (7). It was shown that bone changes might cause chronic pain, limit the independence of patients with GD and significantly reduce their quality of life.
Eliglustat, an SRT available as first-line treatment for selected adult patients with type I GD, is usually well tolerated; however, it is mandatory to assess the concomitant use of medications, herbal supplements, and fruits that might affect cytochrome P450 (CYP) 2D6 and CYP3A metabolism and thus alter eliglustat plasma levels (9).
Some patients with GD have gastrointestinal symptoms caused by organomegaly, mainly early satiety, abdominal bloating, and stomach heaviness. These symptoms can be improved by dividing meals into smaller, more frequent portions and reducing food volume at each meal.
Patients with GD have increased resting energy expenditure, which may contribute to their growth delay and cause them to be underweight (2). Therapies normalize children with GD growth and positively affect metabolism in all patients with GD.
