Article published Open Source in: Journal of Bone and Mineral Research (JBMR), Vol. 35, No. 11, November 2020, pp 2171-2178
Authors: Lothar Seefried, Kathryn Dahir, Anna Petryk, Wolfgang Högler, Agnès Linglart, Gabriel Angel Martos-Moreno, Keiichi Ozono, Shona Fang, Cheryl Rockman-Greenberg and Priya S Kishnani
What is this article about?
The study “Burden of Illness in Adults With Hypophosphatasia” examines how HPP, a rare genetic disease, affects adults. It included 304 adults, mostly women, with an average age of 48.6 years. About 45% had symptoms that started in adulthood, while 33% had symptoms from childhood.
Many reported multiple issues, with 38% experiencing five or more symptoms and 62% having fractures. On average, pain levels were moderate, with a score of 3.5, and the disability score was 0.3, indicating difficulties in daily activities.
Health-related quality of life scores were significantly lower than those of the general population, showing that living with HPP is challenging. More symptoms were linked to worse pain and disability. There were no major differences in experiences between those with childhood and adult-onset HPP, but childhood-onset patients reported more severe pain.
Overall, the study highlights the significant challenges faced by adults with HPP, emphasizing the need for better diagnosis and treatment.
Key Take Aways:
This article will provide valuable insights into:
- Study Population: 304 adults with HPP, mostly women (74%), median age 48.6 years.
- Symptoms: 38% reported five or more clinical manifestations; 62% had fractures/pseudofractures.
- Pain and Disability: Median pain severity was 3.5; disability score (HAQ-DI) averaged 0.3.
- Quality of Life: HRQoL scores were significantly lower than the general population.
- Burden of Illness: Findings underscore the high disease burden in adults with HPP, necessitating improved management strategies.