X-Linked hypophosphatemia. Data from a Spanish adult population cohort.

Autors de IIS La Fe

• Luis Carlos López Romero

  Autor

• Jose Jesus Broseta Monzo

  Autor

• Julio Hernández Jaras

  Autor

Autors aliens a IIS La Fe

• Munoz-Castaneda, Juan R

Grups d'Investigació

• Farmacogenética

  Investigador Principal

  María José Herrero Cervera

• Unidad Mixta de Investigación en Nanomedicina y Sensores

  Leader

  Ramón Martínez Máñez

Abstract

BACKGROUND: X-linked hypophosphatemia (XLH) represents the most prevalent cause of hereditary hypophosphatemia. X-linked hypophosphatemia causes an elevation of fibroblast growth factor 23 (FGF23), a hormone responsible for inducing hyperphosphaturia, and reduced active vitamin D synthesis. Challenges in diagnosis and the absence of well-defined clinical guidelines have resulted in higher rates of late diagnoses. While numerous reports focus on pediatric X-linked hypophosphatemia patients, studies in adults are limited. METHODS: Multicenter, cross-sectional, observational study of a cohort of adult patients diagnosed with X-linked hypophosphatemia. The study identified demographic, clinical, genetic, laboratory variables, treatments used, comorbidities, and complications. RESULTS: Twenty patients diagnosed with X-linked hypophosphatemia were collected. The median age at diagnosis was 11 (1-56) years and at data collection was 44 (21-68) years. Fifty percent of cases were diagnosed in adulthood. Main clinical manifestation was osteoarticular pain, in 75% of cases, and no relation to age at diagnosis, height, phosphorus, or parathyroid hormone (PTH) levels was observed (p>0.05). Lower limb deformities were associated with reduced stature and earlier diagnosis (p<0.05). Sixty percent of patients reported pain requiring chronic medication and no significant correlation was found with other variables. Anxiety and depression were found in an important number of patients. FGF23 levels were not related to any of the clinical variables studied (p>0.05). DISCUSSION: This is the largest study on adult patients with X-linked hypophosphatemia in southern Europe. It mayoffer valuable insights into the natural progression and course of the condition in adults, which can aid in better clinical management.

Keywords

• X-linked hypophosphatemia; XLH; Fibroblast growth factor 23; FGF23; Tubulopathy; Hypophosphatemia