Endocrine Abstracts

Introduction: Low bone mass in young patients is often poorly managed. There is little guidance/consensus in investigating and managing this condition among specialists. There are numerous causes of low bone mass including genetic, hormonal disturbances, nutritional disorders, chronic diseases of childhood or adolescence, medications, etc. Coeliac disease is one of many secondary causes of osteopenia and osteoporosis. It is under-diagnosed and often not diagnosed until adulthood.

Case: A 41-year-old female with a history of non-osteoporotic fracture and low bone mass was referred for specialist review. She was on bisphosphonate therapy for 1 year before the specialist consultation. Her diet predominantly consisted of salads. Most foods caused her abdominal discomfort and bloating.

Investigations: Bone mineral density (BMD) revealed a normal bone profile with Vitamin D of 49.3 nmol/L. Her BMD revealed a Z-score of -2.1 in the lumbar spine, -2.1 in the left femoral neck and -1.8 in the left total hip. She had a coeliac screen which was positive with normal IgA levels. Subsequent duodenal biopsy demonstrated villous atrophy.

Discussion: The patient had confirmed coeliac disease. Her vitamin D deficiency was treated. She was advised about a gluten-free diet. Following her diagnosis, her children were also diagnosed with vitamin D deficiency and coeliac disease. The diagnosis had a life-changing impact on the patient and her family. This case highlights the importance of good history-taking and the importance of considering secondary causes in young patients presenting with low vitamin D and low bone mass. Vitamin D is the most common vitamin deficiency in the developed world. Currently, there is no guidance on the treatment of vitamin D insufficiency/deficiency in adults and children without CKD. Establishing national/international guidance is suggested.