X-Linked Hypophosphatemia

Abstract

Linked Hypophosphatemia (XLH) is a genetic disorder that affects the bones and teeth, primarily characterized by low levels of phosphate in the blood. XLH is a rare disorder but is considered the most common inherited form of rickets. The clinical presentation of XLH varies widely with the most common symptoms of XLH being short stature, bowing of the legs, and dental defects. Diagnosis of XLH is typically made through clinical evaluation and genetic testing. Treatment options include monoclonal antibody therapy, oral phosphates, and bisphosphonates. This article will discuss the general clinical presentation of XLH, including the common symptoms and signs, the age of onset, diagnosis and treatment options, and the importance of primary care physician screening.