HPP diagnosis current state of the art and proposed diagnostic criteria for children and adults

Article published Open Source in: Osteoporosis International (2023) 35:431-438 (Springer)

Authors: Aliya A. Khan, Maria Luisa Brandi, Eric T. Rush, Dalal S. Ali, Hatim Al‑Alwani, Khulod Almonaei, Farah Alsarraf, Severine Bacrot, Kathryn M. Dahir, Karel Dandurand, Chad Deal, Serge Livio Ferrari, Francesca Giusti, Gordon Guyatt, Erin Hatcher, Steven W. Ing, Muhammad Kassim Javaid , Sarah Khan, Roland Kocijan, Agnes Linglart, Iman M’Hiri, Francesca Marini, Mark E. Nunes, Cheryl Rockman‑Greenberg, Christian Roux, Lothar Seefried, Jill H. Simmons, Susan R. Starling, Leanne M. Ward, Liang Yao, Romina Brignardello‑Petersen, E. Michael Lewiecki

What is this article about: 
Hypophosphatasia (HPP) is a rare inherited disorder that affects bone and tooth health due to mutations in the alkaline phosphatase gene (ALPL). Symptoms can vary widely, from severe bone issues to mild dental problems. Unfortunately, diagnosing HPP can take a long time—averaging about 5.7 years—because its signs are often missed or mistaken for other conditions. To improve diagnosis, experts have proposed new criteria based on clinical features, lab tests, and genetic analysis. An International Working Group has developed major and minor criteria to help healthcare providers identify HPP earlier, which is crucial for effective treatment. Ongoing research aims to enhance our understanding of the disease and refine these diagnostic guidelines.

Key Take Aways:
This article will provide valuable insights into:

1. HPP is a rare genetic disorder impacting bones and teeth.
2. Symptoms vary, from serious health issues to minor dental problems.
3. Diagnosis often takes years, leading to complications and misdiagnosis.
4. New diagnostic criteria have been proposed to help identify HPP more quickly.
5. Early diagnosis is essential for effective management and treatment.