Hypophosphatasia: from birth to adulthood

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Hypophosphatasia (HPP) is an inherited disorder characterized by deficient tissue-nonspecific alkaline phosphatase activity.
• This deficiency leads to the accumulation of metabolites that impair bone mineralization and cause various clinical symptoms.

Purpose of the Study:

• To review the key aspects of Hypophosphatasia (HPP).
• To highlight the specific clinical features and management of HPP in adult patients.

Main Methods:

• Literature review of Hypophosphatasia (HPP).
• Summary of clinical manifestations and treatment strategies.

Main Results:

• HPP presents with a wide spectrum of severity, impacting bone, muscle, and organ systems.
• Enzyme replacement therapy (ERT) with asfotase alfa has transformed HPP prognosis, improving bone health and other functions.
• Off-label use of teriparatide and anti-sclerostin antibody shows promise in adult HPP patients with fractures and osteoporosis.

Conclusions:

• HPP is a serious inherited condition requiring specialized management.
• Asfotase alfa ERT offers significant clinical benefits for HPP.
• Further research into adult HPP management is warranted.