Vitamin D deficiency in patients with Ehlers-Danlos syndrome

Poprawa Iga; Babula Emilia; Żuk-Łapan Aleksandra; Podstawka Jakub; Julia Latocha; Zuzanna Szymańska; Domański Jan; Bernadetta Kaluza; Franek Edward

doi:10.1530/endoabs.99.EP545

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Endocrine Abstracts (2024) 99 EP545 | DOI: 10.1530/endoabs.99.EP545

ECE2024 Eposter Presentations Calcium and Bone (102 abstracts)

Vitamin D deficiency in patients with Ehlers–Danlos syndrome

Poprawa Iga ^1,2 , Babula Emilia ^1,2 , Żuk-Łapan Aleksandra ^1,2 , Podstawka Jakub ^1,2 , Julia Latocha ^1,2 , Zuzanna Szymańska ^1,2 , Domański Jan ^1,2 , Bernadetta Kaluza ^1,2 & Franek Edward ^1,2,3

Err

Author affiliations

¹National Medical Institute of the Ministry of the Interior and Administration, Department of Internal Medicine, Endocrinology and Diabetology, Warsaw, Poland; ²National Medical Institute of the Ministry of the Interior and Administration, Students Scientific Group of the Medical University of Warsaw at the Department of Internal Medicine, Endocrinology and Diabetology, Warsaw, Poland; ³Mossakowski Medical Research Centre Polish Academy of Sciences, Warsaw, Poland, Department of Human Epigenetics, Warsaw, Poland

Background : Ehlers–Danlos syndrome encompasses a group of genetic conditions characterized by alterations in connective tissue structure, with the consequent increased risk of developing osteopenia, osteoporosis, and incurring fractures. Maintaining vitamin D levels within normal limits is known to play an important role in preventing these complications, which seems to be particularly important in patients with Ehlers–Danlos syndrome. The purpose of this study was to assess serum 25-hydroxyvitamin D, or 25(OH)D, levels in women with Ehlers–Danlos syndrome.

Material and methods: The study involved a prospective assessment of 30 female patients, aged 20–53 years, with hypermobile or classical Ehlers–Danlos syndrome. All patients underwent calcium and phosphorus metabolism testing and bone mineral density (BMD) scans of the femoral neck and lumbar spine. The patients were divided into two groups: those with vitamin D deficiency, defined as serum 25(OH)D levels of < 30 ng/ml (group 1, n=18) and those with normal (> 30 ng/ml) 25(OH)D levels (group 2, n=12).

Results: Eighteen patients (60%) showed vitamin 25(OH)D deficiency, with three of those (16.7%) showing secondary hyperparathyroidism. Study groups 1 and 2 showed no significant differences in terms of serum levels of calcium (2.4±0.09 mmol/l vs 2.39±0.07 mmol/l, P=0.88), phosphorus (3.51±0.7 mg/dl vs 3.42±0.51 mg/dl, P=0.86), bone-specific alkaline phosphatase (10.36±3.06 µg/l vs 8.28±1.31 µg/l, P=0.007), beta-CrossLaps (0.39±0.19 ng/ml vs 0.39±0.17 ng/ml, P=0.69), or osteocalcin (20.14±8 ng/ml vs 21.23±6.67 ng/ml, P=0.46), femoral neck BMD (0.95±0.12 g/cm² vs 0.92±0.13 g/cm², P=0.57), or lumbar spine BMD (0.12±0.16 g/cm² vs 0.13±0.11 g/cm², P=0.14).

Conclusions: Sixty percent of patients with Ehlers–Danlos syndrome showed vitamin 25(OH)D deficiency. Parameters of calcium–phosphorus metabolism in these patients were not significantly different from those in patients with normal serum vitamin 25(OH)D levels.