Evidence map›Paper›PMID 32710160›Full record

SynthesisOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2021

Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review.

L Seefried, M Smyth, R Keen, P Harvengt

Open access · hybridAbstract readSystematic Review
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
56citing papers in PubMed, 1 pooled it
5.7field-weighted citation impact, top 3% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

56 citing papers in PubMed, 1 synthesis or guideline pooled it, 75 citations in OpenAlex.

  1. Guideline
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  7. Observational
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  12. Article
  13. Switching from active vitamin D and phosphate supplementation to burosumab significantly corrects lower limb malalignment in pediatric X-linked hypophosphatemia.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2025
    Observational
  14. Article
  15. Article
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  20. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 3 institutions in 2 countries.

L SeefriedOrthopedic Institute, König-Ludwig Haus, University of Würzburg, Würzburg, Germany.
M SmythKyowa Kirin International, Galashiels, UK.
R KeenRoyal National Orthopaedic Hospital, Stanmore, UK.
P HarvengtRVRH-XLH, French association of patients with XLH (a member of the International XLH Alliance), 20 rue Merlin de Thionville, Appt 120, 92150, Suresnes, France. pol.harvengt@gmail.com.
Kyowa Kirin International (United Kingdom) · GBUniversity College London · GBUniversity of Würzburg · DE

Funding

Kyowa Kirin International NA
6 · The paper itself

Abstract

This systematic review collated evidence on the burden of XLH in adults. Data captured highlight the substantial ongoing burden of XLH in adulthood and identified unmet needs. Greater awareness and understanding of the impact of XLH in adulthood are needed to improve care and outcomes in adults with XLH.

introductionX-linked hypophosphataemia (XLH) is a rare metabolic bone disease characterized by renal phosphate wasting and musculoskeletal manifestations. Whilst the disease's impact in children is well documented, information on the effects of this progressive, debilitating condition on adults is lacking. This systematic review aimed to collate existing evidence on the burden of XLH in adulthood to identify unmet needs.

methodsMEDLINE, Embase and Cochrane Library databases and recent congress reports were searched on 19 February 2019 for English-language publications describing the medical, humanistic and socio-economic impact of XLH in adults (≥ 18 years old). In addition, a structured Internet search was conducted.

resultsOf the 2351 articles identified, 91 met the selection criteria along with 44 congress abstracts. Data show that adults with XLH experience a range of clinical manifestations, particularly skeletal deformities and (pseudo)fractures, along with pain, dental abnormalities and impaired physical function and mobility. XLH in adulthood impacts on quality of life and places limitations on daily activities. The level of healthcare resource utilization among adults with XLH is indicative of substantial socio-economic burden; further research is needed to quantitate the economic impact on the healthcare system, society and patients. Adults with XLH may not receive appropriate care and treatment; a possible explanation for this is a lack of awareness among healthcare professionals.

conclusionXLH in adults is associated with considerable disease burden and unmet needs. Forthcoming studies and increased awareness of the impact of XLH in adulthood should help to improve management of XLH in adulthood and patient outcomes.

Indexed as

Cost of IllnessFamilial Hypophosphatemic RicketsAdolescentAdultCase-Control StudiesChildCohort StudiesDouble-Blind MethodFemaleHumansMaleQuality of LifeFamilial hypophosphataemic ricketsIllness burdenQuality of lifeSystematic reviewUnmet needsX-linked hypophosphataemia

Identifiers

PMID32710160
PMCPMC7755619
OpenAlexW3045393849

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.