ECE2024 Rapid Communications Rapid Communications 10: Calcium and Bone | Part II (5 abstracts)
Clinical features of a multicenter Italian cohort of adult patients with X-linked hypophosphatemia
Silvia Carrara 1 , Silvia Vai 2 , Simone Della Valentina 3 , Gaetano Arcidiacono 4 , Marco Torres 4 , Federica Giambo 5 , Alessia Pusterla 6 , Federica Fraire 6 , Andrea Palermo 7 , Francesca Pigliaru 8 , Valentina Camozzi 9 , Cristina Eller Vainicher 10 , Elena Castellano 11 , Laura Gianotti 12 , Filomena Cetani 13 , Massimo Procopio 14 , Marco Barale 15 , Sandro Giannini 4 , Giuseppe Vezzoli 5 & Sabrina Corbetta 16
1Bone Metabolism Disorders and Diabetes Unit, IRCCS Istituto Auxologico Italiano, Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy; 2Bone Metabolism Disorders and Diabetes Unit, IRCCS Istituto Auxologico Italiano, Milan, Italy; 3Department of Translational Researche and Innovative Technology in Medicine and Surgery, University of Pisa, Pisa, Italy; 4UOC Clinica Medica 1, Dipartimento di Medicina, Università degli Studi di Padova, Padua, Italy; 5Nephrology Unit, IRCCS Ospedale San Raffaele, Università Vita Salute San Raffaele, Milan, Italy; 6Endocrinology, Diabetes and Metabolism; Department of Medical Sciences, University of Turin, Turin, Italy; 7Unit of Endocrinology and Diabetes, Department of Medicine, Campus Bio-Medico University of Rome, Rome, Italy; 8Endocrinology Unit, AOU Cagliari, Cagliari, Italy; 9UOC Endocrinologia Endo-Ern, Azienda Ospedale, Università degli Studi di Padova, Padua, Italy, 10SC Endocrinologia, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy, 11Division of Endocrinology, Diabetology and Metabolism, Department of Internal Medicine, Santi Croce & Carle Hospital, Cuneo, Italy, 12Struttura Complessa di Endocrinologia e Diabetologia Territoriale, ASL Cuneo 1, Cuneo, Italy, 13Endocrine Unit, University Hospital of Pisa, Pisa, Italy, 14Endocrinology, Diabetes and Metabolism, Department of Medical Sciences, University of Turin, Turin, Italy, 15Oncological Endocrinology, Department of Oncology, University of Turin, Turin, Italy, 16Bone Metabolism Disorders and Diabetes Unit, IRCCS Istituto Auxologico Italiano, Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy
X-linked hypophosphatemia (XLH) is a rare genetic disease due to inactivation of the PHEX gene, which results in enhanced secretion of the phosphaturic hormone fibroblast growth factor 23 (FGF23); the latter induces renal phosphate wasting and hypophosphatemia. Skeletal and dental anomalies and recently described increase in cardiovascular risk are typical clinical findings. We retrospectively evaluated 58 adult patients with XLH from 9 Italian tertiary centres [34 females, 24 males, aged 42.6±14.5 (19-72, min-max) years]. Median age at diagnosis was 4.0 (IQR, 2.0-14.0; min-max, 1-66) years; 12 patients (20.7%) were diagnosed in their adulthood. Twenty-six patients (44.8%) reported a family history of XLH and two females passed the condition on to their child. PHEX gene mutations or deletions were identified in 95% of patients. Circulating FGF23 levels were assayed in 23 patients (111.5±71.5 pg/ml); FGF23 was increased in only 11 (47.8%) patients. Fractures or pseudofractures were reported in 30 patients (51.7%); 45 patients (77.6%) had marked signs of skeletal deformities, mainly varus of the lower limbs, or underwent multiple orthopedic surgeries; 18 (31.0%) patients had marked osteophytosis particularly affecting the spine. Enthesopathies were described in 16 (27.6%) patients, mostly affecting the knees. About two third of patients had severe dental disease, especially abscesses. Kidney stones/nephrocalcinosis developed in 6 patients. Regarding their cardiometabolic profile, 10 patients (aged 59.4±10.6 years) had hypertension, and 7 patients were dyslipidemic. None of the patients had diabetes mellitus or a history of major adverse cardiovascular events. In the present series, 5 patients were diagnosed with hypoacusia. Autoimmune diseases, namely rheumatoid arthritis, Sjogren syndrome, thyroid diseases, and inflammatory bowel diseases, occurred in 17% of patients. About two third of patients were on conventional therapy with phosphate supplements and/or calcitriol, whereas 22 patients were on burosumab, a recombinant human IgG1 anti-FGF23 monoclonal antibody. Most patients proposed for treatment with burosumab, had experienced previous fractures/pseudofractures compared with patients on conventional therapy (82.6 vs 34.4% P=0.0008), while they did not differ for age, age at diagnosis, and FGF23 levels. In conclusion, Italian adult XLH patients include lower limb deformities and severe dental disease as major clinical features; the presence of enthesopathies and ossifications that limit patients’ quality of life is significant. Conversely, major cardiovascular events did not appear to be prevalent. Finally, Italian bone specialists propose burosumab to adult XLH patients with prevalent fractures/pseudofractures.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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