Exploring the Burden of X-Linked Hypophosphataemia: An Opportunistic Qualitative Study of Patient Statements Generated During a Technology Appraisal

Abstract

Introduction: Capturing the patient experience of living with a rare disease such as X-linked hypophosphataemia (XLH) is critical for a holistic understanding of the burden of a disease. The complexity of the disease coupled with the limited population makes elicitation of the patient burden methodologically challenging. This study used qualitative information direct from patient and caregiver statements to assess the burden of XLH. Methods: A thematic analysis was conducted on statements received during a National Institute for Health and Care Excellence (NICE) online public open consultation from 15 June to 6 July 2018. Researchers and clinical experts generated themes and codes based on expected aspects of XLH burden. Statements were independently coded by two reviewers, adding additional codes as required, and analysed by frequency and co-reporting across age groups. Results: The majority of responses were submitted from UK-based patients with some from the USA and Australia, and the statements related to children, adolescents and adults. The findings suggest that the greatest burden experienced by children is associated with conventional therapy, co-reported with dosing regimen, adherence, distress and pain. During adolescence, the burden becomes increasingly complex and multi-factorial, with an increasing psychological burden. In adults, conventional therapy co-reported with bone deformity and Enhanced Digital Features To view enhanced digital features for this article go to https://doi.org/10.6084/ m9.figshare.11336099.

X-Linked Hypophosphatemia: A New Era in Management

“…The observation of worsened QoL in female patients is noteworthy considering the trend toward more significant manifestations in male patients. Despite low levels of depression reported for adults with XLH in existing studies [ 12 , 67 ], in our experience, depression and anxiety are not uncommon [ 68 ].…”

Patient-Reported Complications, Symptoms, and Experiences of Living With X-Linked Hypophosphatemia Across the Life-Course

“…As a result, most children with XLH have an abnormal gait, some delayed motor milestones, and experience pain [ 4 ]. Overall emotional wellbeing may be affected, and children may have difficulties with attendance and participation in school [ 5 ].…”

“…During adolescence, the burden became increasingly complex and multifactorial, with psychological factors dominating. In adults, the burdens of conventional therapy are discussed with frequency, along with bone deformity and orthopedic surgery, pain, mobility, fatigue, and dental problems [ 5 ].…”

Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium

“…A trial of conventional treatment is therefore justified in symptomatic adults ( 137 ), although in many cases, symptoms of fatigue, low back pain, osteoarthritis, enthesopathy and spinal ligament calcifications may dominate, which generally do not respond to conventional therapy, nor does hearing loss ( 13 ). Furthermore, conventional medical therapy is often unpleasant, burdensome ( 14 ), and costly, requires monitoring and may be associated with side effects such as gastrointestinal symptoms, arterial hypertension or nephrolithiasis/nephrocalcinosis. There is consensus however that insufficiency fractures or pseudofractures, planned surgical procedures are indications for medical therapy in adults, while treatment may be considered in case of raised (bone) ALP and/or bone pain ( 13 ).…”

“…During this phase, conventional therapy with phosphate supplements and active vitamin D analogues is often stopped, because subjective and skeletal benefits are thought to be lacking ( 13 ). During adolescence, the psychological burden increases ( 14 ), which may contribute to poor adherence and lack of follow-up. The historic perception of therapeutic futility in adults has probably contributed to the dearth of transitional care programs between pediatric and adult specialty care for XLH patients.…”