2021 ACMG Annual Clinical Genetics Meeting - Product Theaters-Recognizing the Clinical Consequences of Low ALP, Diagnosing Hypophosphatasia (HPP)

Recognizing the Clinical Consequences of Low ALP, Diagnosing Hypophosphatasia (HPP)

Video Transcription

Video Summary

The video provides information about hypophosphatasia (HPP), a progressive and potentially life-threatening inherited disorder. It discusses three case studies to illustrate the symptoms and diagnosis of HPP.<br /><br />The first case study focuses on a 21-year-old college student who experiences joint pain, fatigue, and previous fractures. Although her lab results show low alkaline phosphatase (ALP) levels, it is overlooked as insignificant. However, further examination reveals ankle pain and decreased mineralization in X-rays, indicating HPP.<br /><br />The second case study features a 7-year-old girl with short stature and fatigue. Despite normal ALP levels, her symptoms and delayed development should have prompted a diagnosis of HPP.<br /><br />The third case study involves a 42-year-old mother with fatigue, difficulty walking, and low bone density. With a history of fractures and persistently low ALP levels, she is diagnosed with HPP and her family members are tested for the disorder.<br /><br />The video emphasizes the importance of recognizing the signs and symptoms of HPP, including persistently low ALP levels, to ensure a timely and accurate diagnosis. It also highlights the need to consider age and sex-adjusted ALP reference intervals in diagnosing HPP in children. The presentation concludes by discussing the life-threatening consequences of HPP in infants and the significance of early diagnosis.

Asset Subtitle

Alexion

Keywords

hypophosphatasia

inherited disorder

symptoms

diagnosis

case studies

persistently low ALP levels