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Bone health 

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Introduction

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. Almost 20% of patients have mobility reduced by joint lesions, including bone deformation, osteopenia/ osteoporosis, aseptic necrosis, or pathological fractures. ERT and SRT can reduce bone pain and bone crisis, and long-term treatment can also increase bone mineral density (BMD) and prevent bone complications; however, some changes are irreversible, and arthroplasty may be needed.

Evidence

Although there are no studies on the effect of diet or lifestyle on the progression of skeletal damage, patients with GD should receive bone health instructions similar to those given to patients with osteopenia or osteoporosis. Nutritional therapy is very important to ensure proper growth and achieve peak bone mass in young patients with GD.

Recommendations

The panel suggests that patients with GD receive bone health instructions as part of their regular visit to the Gaucher clinic.
Patients with osteoporosis may benefit from a consultation with osteoporosis experts to evaluate for non-GD-related causes and intervention options.

Details

  • It is advised for patients with GD to exercise regularly, avoid smoking, and limit alcohol intake, as these factors are important regulators of bone turnover.
  • An adequate intake of vitamin D and dietary calcium should be provided (8). Drinking water (at least 1-2 liter a day) and regularly eating legumes, nuts, and fresh dairy products, which are rich in calcium, are recommended daily. Low-dose calcium supplements are usually needed only during pregnancy, lactation, and in menopausal women, if their diet does not provide the required daily allowance of 1-2 grams.
The panel suggests regular annual checking of vitamin DOH blood levels in patients with GD to guide supplementation when needed. 
  • Vitamin D supplements may be required, depending on the light exposure and the dietary intake of individual patients. As high blood levels of vitamin D may be toxic, minor refracted weekly supplementation is preferred to a high monthly supplement. Most GD clinics assess vitamin D levels routinely, usually once a year. In case of significant level deficiencies, it may be necessary to follow up after 3-6 months. Some GD clinics evaluate vitamin D levels  in specific cases, not routinely, particularly in wintertime and in patients with an unbalanced diet or insufficient hydration and outdoor life.
  • Vitamin D and calcium supplements at physiological doses are recommended as a first-line treatment for patients with osteoporosis on diphosphonate therapy (8).
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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.

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References 

  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.
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