ECEESPE2025 ePoster Presentations Bone and Mineral Metabolism (142 abstracts)
Sjögren’s syndrome revealing familial hypocalciuric hypercalcemia: a case report
Kouloud Boujelben 1 , Mariam Akacka 1 , Mouna Elleuch 1 , Mohamed Khairi Arous 1 , Mouna Mnif 1 , Faten Haj Kacem Akid 1 , Mohamed Abid 1 , Nadia Charfi 1 , Dhoha Ben Salah 1 & Nabila Rekik Majdoub 1
1Hedi Chaker University Hospital, Endocrinology Department, Sfax, Tunisia
JOINT3398
Introduction: Familial hypocalciuric hypercalcemia (FHH), also known as Marx syndrome, is a benign hereditary condition with autosomal dominant transmission. Here, we describe a case of FHH diagnosed in the context of the management of Sjögren’s syndrome.
Case Report: A 41-year-old female patient with no significant medical history presented with ocular and oral dryness. The diagnosis of Sjögren’s syndrome was confirmed based on a Grade 4 Chisholm lymphocytic sialadenitis found on labial biopsy and the presence of positive anti-SSA antibodies. A phosphocalcium assessment repeatedly showed hypercalcemia (2.7–2.83 mmol/l) with normal phosphatemia and alkaline phosphatases, along with hypocalciuria confirmed on multiple occasions (0.45–1.3 mmol/24h). Given this moderate and asymptomatic hypercalcemia, an etiological investigation was conducted, ruling out:Primary hyperparathyroidism (normal PTH, unremarkable ultrasound), Multiple myeloma (normal serum immunoelectrophoresis), Sarcoidosis (normal angiotensin-converting enzyme levels), Drug-induced hypercalcemia (no relevant medication history) The presence of hypocalciuria further supported the diagnosis of familial hypocalciuric hypercalcemia (FHH).
Discussion: Renal involvement in Sjögren’s syndrome can lead to hypercalciuria due to tubular dysfunction. The uniqueness of this case lies in the unexpected finding of hypocalciuria, which, after an extensive workup, was attributed to FHH. FHH is associated with an inactivating mutation of the calcium-sensing receptor (CaSR) gene, located on chromosome 3, necessitating screening of other family members
Volume 110
Article tools
My recent searches
My recently viewed abstracts
Authors
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2025 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more