XLH Matters: an evolving programme to discuss new advances and share clinical experiences to improve patient outcomes

A 36-item short-form (SF-36) was constructed to survey health status in the Medical Outcomes Study. The SF-36 was designed for use in clinical practice and research, health policy evaluations, and general population surveys. The SF-36 includes one multi-item scale that assesses eight health concepts: 1) limitations in physical activities because of health problems; 2) limitations in social activities because of physical or emotional problems; 3) limitations in usual role activities because of physical health problems; 4) bodily pain; 5) general mental health (psychological distress and well-being); 6) limitations in usual role activities because of emotional problems; 7) vitality (energy and fatigue); and 8) general health perceptions. The survey was constructed for self-administration by persons 14 years of age and older, and for administration by a trained interviewer in person or by telephone. The history of the development of the SF-36, the origin of specific items, and the logic underlying their selection are summarized. The content and features of the SF-36 are compared with the 20-item Medical Outcomes Study short-form.

According to the 36-Item Short Form Health Survey questionnaire developers, a global measure of health-related quality of life such as the “SF-36 Total/Global/Overall Score” cannot be generated from the questionnaire. However, studies keep on reporting such measure. This study aimed to evaluate the frequency and to describe some characteristics of articles reporting the SF-36 Total/Global/Overall Score in the scientific literature. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses method was adapted to a scoping review. We performed searches in PubMed, Web of Science, SCOPUS, BVS, and Cochrane Library databases for articles using such scores. We found 172 articles published between 1997 and 2015; 110 (64.0%) of them were published from 2010 onwards; 30.0% appeared in journals with Impact Factor 3.00 or greater. Overall, 129 (75.0%) out of the 172 studies did not specify the method for calculating the “SF-36 Total Score”; 13 studies did not specify their methods but referred to the SF-36 developers’ studies or others; and 30 articles used different strategies for calculating such score, the most frequent being arithmetic averaging of the eight SF-36 domains scores. We concluded that the “SF-36 Total/Global/Overall Score” has been increasingly reported in the scientific literature. Researchers should be aware of this procedure and of its possible impacts upon human health.

X-linked hypophosphataemia (XLH) is the most common cause of inherited phosphate wasting and is associated with severe complications such as rickets, lower limb deformities, pain, poor mineralization of the teeth and disproportionate short stature in children as well as hyperparathyroidism, osteomalacia, enthesopathies, osteoarthritis and pseudofractures in adults. The characteristics and severity of XLH vary between patients. Because of its rarity, the diagnosis and specific treatment of XLH are frequently delayed, which has a detrimental effect on patient outcomes. In this Evidence-Based Guideline, we recommend that the diagnosis of XLH is based on signs of rickets and/or osteomalacia in association with hypophosphataemia and renal phosphate wasting in the absence of vitamin D or calcium deficiency. Whenever possible, the diagnosis should be confirmed by molecular genetic analysis or measurement of levels of fibroblast growth factor 23 (FGF23) before treatment. Owing to the multisystemic nature of the disease, patients should be seen regularly by multidisciplinary teams organized by a metabolic bone disease expert. In this article, we summarize the current evidence and provide recommendations on features of the disease, including new treatment modalities, to improve knowledge and provide guidance for diagnosis and multidisciplinary care.