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. However, evaluating the effectiveness of nutritional therapy is complicated by the possible overlapping effects of lifestyle and enzyme replacement therapy (ERT) or SRT on metabolic factors (1).

GD is characterized by hypermetabolism, insulin resistance, and dyslipidemia, with markedly reduced serum high-density lipoprotein (HDL) cholesterol and increased triglycerides. Resting energy expenditure and growth rate almost normalizes during GD-related treatment, and patients tend to gain weight. However, increased body weight observed in untreated patients with aging suggests that weight gain and metabolic syndrome development may also be associated with dietary habits and a sedentary lifestyle (2). Celiac disease has been reported in association with GD, like other autoimmune disorders. Cholelithiasis is frequent in patients with GD due to the biliary secretion of sphingolipids.

• Dietary patterns beneficial for cardiovascular health are predominantly plant-based, consisting of high consumption of whole grains, vegetables, fruits, legumes, nuts, and seeds; moderate consumption of fish, lean poultry, and eggs; and limited consumption of red and processed meat, sweets, salt, energy-dense food, alcohol, and sugar-sweetened beverages. The Mediterranean Diet (with olive oil and nuts), the Portfolio Diet, the fish-vegetarian diet, and the Dietary Approach to Stop Hypertension (DASH) diet are well-known examples of healthy dietary patterns. Although the benefit of these dietary patterns was not specifically investigated in adults with GD, we would see no detriment in having similar recommendations as for the general population.
• Everyday tips: increase vegetables, fruits, and berries, fish, nuts, and seeds, exchange refined cereals with whole grain cereals, replace butter and spreads with vegetable oils, exchange high-saturated dairy with low-fat dairy; limit red and processed meat, alcohol, sweet food and beverages, salt and salty snacks.
• Nutritional supplements are not usually necessary and are not recommended:  a balanced, varied diet can provide all minerals, nutrients, and trace elements needed. Many scientific societies warn against supplements, especially for cancer prevention: vitamins A and E used as antioxidant agents can be liver toxic when added at a high dose. Dietary sources of vitamin A are liver, sweet potatoes, carrots, milk, and egg yolks. Vegetable oils (wheatgerm oil), avocados, nuts, seeds, and whole grains are a source of vitamin E. Vitamin C is abundant in oranges, blackcurrants, kiwifruit, mangoes, broccoli, spinach, cruciferous veggies, and strawberries.
• Natural antioxidants, and antiaging agents from organic sources are preferred and recommended, such as polyphenols of olive oil and oregano; lycopene of tomatoes and watermelon; allium sulfur compounds of leeks, onions, and garlic; anthocyanins of eggplant, grapes, and berries; beta-carotene of pumpkin, mangoes, apricots, carrots, spinach, and parsley; catechins of tea. Seafood, lean meat, whole cereals, milk, and nuts provide copper, selenium, manganese, and zinc; green tea, citrus fruits, red wine, onion, and apples provide flavonoids; pumpkin and mangoes are a font of cryptoxanthins; cruciferous vegetables such as broccoli, cabbage and cauliflower are a source of indoles; soybeans, tofu, lentils, peas, and milk are rich in isoflavonoids; lutein is abundant in green, leafy vegetables like spinach and in corn (5). A well-balanced diet, which includes dietary antioxidants from whole foods, is best. Although the benefit of these dietary patterns was not specifically investigated in adults with GD, we would see no detriment in having similar recommendations as for the general population.
• Novel diets, such as “time-restricted eating diet,” “intermittent fasting,” and ketogenic diets, have not been studied in patients with GD. In obese people, short-term evidence is available on their effectiveness in reducing body weight and glycemia but not in reducing cardiovascular and cancer risk in the long term. Keto diets are unbalanced, poor in fiber and calcium, and they increase blood cholesterol levels. Their claimed efficacy against neurodegenerative disorders and aging is mainly indirect. These special diets should not be recommended; their adverse metabolic, renal, and skeletal effects have been shown. In specific patients, therapeutic diets (such as keto diets for refractory epilepsy) have to be carefully managed and followed up by nutritional therapy experts in collaboration with neurologists experienced in the field of neurometabolomics.
• Regular exercise can alleviate or prevent diabetes, hypertension, overweight and obesity, cancer, heart attacks, and overall cardiovascular risk and improve the condition of the osteoarticular system. Reducing sedentary time and increasing physical activity is a relevant intervention to improve public health. Exercise duration and goals have arbitrarily been set: walking about 30-40 min per day (150 min per week), practicing sports and attending gyms, and taking stairs instead of elevators are all considered effective cardiovascular risk preventive measures. Aerobic and anaerobic exercise are both beneficial in preventing or reducing overweight and obesity. Exercise may prevent fracture risk and osteoporosis and favor psychological well-being and quality of life.The panel suggests regular annual checking of vitamin B12 and folic acid in patients with GD to guide supplementation when needed.

 
1. Nascimbeni F, Dalla Salda A and Carubbi F: Energy balance, glucose and lipid metabolism, cardiovascular risk and liver disease burden in adult patients with type 1 Gaucher disease. Blood Cells Mol Dis 68: 74-80, 2018.

 

2. Carubbi F, Barbato A, Burlina AB, et al.: Nutrition in adult patients with selected lysosomal storage diseases. Nutr Metab Cardiovasc Dis 31: 733-744, 2021.

 

3. de Fost M, Langeveld M, Franssen R, et al.: Low HDL cholesterol levels in type I Gaucher disease do not lead to an increased risk of cardiovascular disease. Atherosclerosis 204: 267-272, 2009.

 

4. Langeveld M, Ghauharali KJ, Sauerwein HP, et al.: Type I Gaucher disease, a glycosphingolipid storage disorder, is associated with insulin resistance. J Clin Endocrinol Metab 93: 845-851, 2008.

 

5. Petersen KS, Flock MR, Richter CK, Mukherjea R, Slavin JL and Kris-Etherton PM: Healthy Dietary Patterns for Preventing Cardiometabolic Disease: The Role of Plant-Based Foods and Animal Products. Current Developments in Nutrition 1, 2017.

 

6. Gielchinsky Y, Elstein D, Green R, et al.: High prevalence of low serum vitamin B12 in a multi-ethnic Israeli population. Br J Haematol 115: 707-709, 2001.

 

7. Hughes D, Mikosch P, Belmatoug N, et al.: Gaucher Disease in Bone: From Pathophysiology to Practice. J Bone Miner Res 34: 996-1013, 2019.

 

8. Gregson CL, Armstrong DJ, Bowden J, et al.: UK clinical guideline for the prevention and treatment of osteoporosis. Arch Osteoporos 17: 58, 2022.

 

9. Belmatoug N, Di Rocco M, Fraga C, et al.: Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe. Eur J Intern Med 37: 25-32, 2017.

 

10. Belmatoug N, Burlina A, Giraldo P, et al.: Gastrointestinal disturbances and their management in miglustat-treated patients. J Inherit Metab Dis 34: 991-1001, 2011.