Adult hypophosphatasia

Area of Science:

• Endocrinology
• Metabolic Bone Disease

Background:

• Hypophosphatasia (HPP) is a rare metabolic bone disorder.
• Adult HPP manifestations include fractures (metatarsal, femoral) and crystal-related arthropathies.
• Low serum alkaline phosphatase (ALP) levels are a key diagnostic indicator but can be overlooked.

Purpose of the Study:

• To highlight the clinical presentation of hypophosphatasia in adults.
• To emphasize the diagnostic importance of low ALP levels in this population.
• To underscore the need for appropriate management to prevent bone resorption.

Main Methods:

• Review of clinical cases and diagnostic criteria for adult HPP.
• Analysis of fracture patterns and joint disease associations.
• Evaluation of current treatment paradigms and their implications.

Main Results:

• Fractures, particularly of the metatarsals and femur, are common in adult HPP.
• Crystal-induced joint diseases can be presenting features of HPP.
• Suboptimal diagnosis may lead to the prescription of bone-resorbing therapies.

Conclusions:

• Adult hypophosphatasia requires increased clinical awareness for timely diagnosis.
• Identifying low ALP is critical for accurate HPP diagnosis in adults.
• Avoiding bone-resorptive treatments is essential for managing bone fragility in HPP.