ADULT-ONSET HYPOPHOSPHATASIA: BEFORE AND AFTER TREATMENT WITH ASFOTASE ALFA

Area of Science:

• Biochemistry
• Genetics
• Endocrinology

Background:

• Hypophosphatasia (HPP) is a rare metabolic bone disease caused by mutations in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP).
• Adult-onset HPP presents with diverse symptoms, including bone pain, muscle weakness, and fractures, often leading to misdiagnosis.
• Low serum alkaline phosphatase (ALP) levels are a hallmark of HPP, but diagnosis can be challenging.

Observation:

• This case report details a woman with debilitating adult-onset HPP.
• Diagnosis was confirmed by low ALP and elevated vitamin B6 levels.
• The patient received enzyme replacement therapy (ERT) with asfotase alfa.

Findings:

• Asfotase alfa treatment led to significant improvement in the patient's chronic bone pain.
• Daily mobility, measured by pedometer step count, quadrupled post-treatment.
• Whole-body scans indicated reduced focal uptake, suggesting enhanced fracture healing.

Implications:

• Asfotase alfa ERT offers a promising therapeutic option for adult-onset HPP.
• The study highlights the importance of recognizing HPP symptoms for timely diagnosis and intervention.
• Further research is needed to understand the clinical significance of ALP level changes post-treatment.