HYPOPHOSPHATASIA: CLINICAL ASSESSMENT AND MANAGEMENT IN THE ADULT PATIENT-A NARRATIVE REVIEW.

OBJECTIVE

To review literature and present a schematic approach to hypophosphatasia (HPP) evaluation and management applicable to practicing physicians to ease its recognition and diagnosis.

METHODS

Studies were obtained from online databases PubMed and MEDLINE using keyword 'hypophosphatasia.'

RESULTS

HPP is a rare disease characterized by low serum alkaline phosphatase along with diverse musculoskeletal symptoms that mimic different disorders. To date, the prevalence of HPP and its impact on adults has been unrecognized. There is lack of evidence from larger and long-term studies examining the adult type of this condition.

CONCLUSION

It is essential to increase awareness on the complexity of the pathophysiology and clinical features of HPP, which causes debilitating physical conditions that severely affects quality of life. A better comprehension of adult forms of HPP is essential to reduce a delay in diagnosis as well as ensure suitable management.

ABBREVIATIONS

ALP = alkaline phosphatase; HPP = hypophosphatasia; PEA = phosphorethanolamine; PLP = pyridoxal-5-phosphate; PPi = inorganic pyrophosphate; TNSALP/TNAP = tissue-nonspecific alkaline phosphatase.