Hipofosfatemia

Abstract

Phosphate is a mineral essential for key functions such as bone mineralization and proper muscle function. Its homeostasis is mainly regulated by parathyroid hormone (PTH), active vitamin D (calcitriol), and fibroblast growth factor 23 (FGF23). Hypophosphatemia can lead to skeletal abnormalities such as rickets or osteomalacia, and systemic symptoms like proximal muscle weakness. The causes are grouped into three mechanisms: intracellular redistribution, decreased intestinal absorption, and increased renal excretion. Diagnosis requires a structured evaluation, including medical history, physical examination, laboratory studies, and eventually FGF23 measurement. Treatment depends on the cause, severity, and symptoms. In hereditary forms such as X-linked hypophosphatemia (XLH), chronic treatment with oral phosphate, calcitriol, and eventually the anti-FGF23 monoclonal antibody, burosumab, is required. A multidisciplinary approach and close follow-up are key to preventing skeletal and systemic complications. The objective of this review is to recognize hypophosphatemia as a relevant metabolic disorder in clinical practice, understanding its pathophysiology, causes, clinical manifestations, diagnosis, and therapeutic options, in order to optimize its detection and timely management.