Longitudinal retrospective study on bone health in adults with RDEB


Investigator: Lynne Hubbard

Institution: St Thomas’ Hospital, London

Grant: £12,000

Starting date: September 2015 for 3 months - Completed

Lay summary

DEBRA UK allocated funding towards a retrospective longitudinal study of bone health in adults with recessive dystrophic epidermolysis bullosa (RDEB), which was led by Senior Specialist EB Dietician Lynne Hubbard at St Thomas’ Hospital.

Whilst bone mass studies have been done in children with RDEB, no studies have been undertaken in adults with EB, especially longitudinal studies for more than 1 year. Research in to bone mass in children suggest that it may be due to lack of development of bone mass, rather than loss. This is a serious concern as it can lead to increased risk of fractures, particularly in the spine and affect mobility and ultimately quality of life.

Data collected retrospectively in 34 adults with RDEB included age, sex, height centile reached, Body Mass Index (BMI), as well as dual energy x-ray absorptiometry (DXA) scans. This was assigned to age categories from 16 years to 35 years. Calcium intake, Vitamin D status, mobility score, puberty attainment and bisphosphonate intake were also recorded.

The results recorded from this study showed that half were female. Being wheelchair bound was associated with the increased risk of osteoporosis as was a delay in puberty. However, it was found that Calcium intake was adequate in 32 (94%) patients, and 2 patients had optimal blood levels of Vitamin D without supplementation.

The conclusions that can be drawn from this study are that mobility and reaching puberty are found to be significant factors associated with osteoporosis in adults with RDEB. After puberty, adults with RDEB who are mobile are able to accumulate bone and improve Bone Mineral Density (BMD). For people with RDEB, maintaining mobility is important for independence and quality of life. Further prospective studies are needed to see if more can be done to improve mobility and BMD in people with EB.