{
  "abstract": "Background: Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder caused by gain-of-function variants in ACVR1 , characterized by congenital great-toe malformations, recurrent inflammatory soft-tissue swellings, and progressive heterotopic ossification (HO). Early lesions may resemble neoplastic, inflammatory, infectious, or trauma-related conditions, whereas invasive procedures can trigger additional HO.\n\nMethods: We performed a cross-sectional analysis of 114 patients with molecularly confirmed FOP enrolled in the National Rare Diseases Registry System of China. The diagnostic journey was reconstructed to evaluate diagnostic delay, misdiagnosis, missed diagnostic opportunities, and patient-reported outcomes after high-risk procedures.\n\nResults: Patients were recruited from 23 provinces or regions. Diagnostic delay exceeded 3 years in 34.5% patients and 10 years in 9.7% patients. FOP was not considered at the first hospital visit in 85 of 114 patients (74.6%), and 72 of 114 (63.2%) reported misdiagnosis. Among misdiagnosed patients, tumor-related diagnoses were most common (36/72, 50.0%), followed by orthopedic or congenital (13/72, 18.1%) and inflammatory or infectious diagnoses (12/72, 16.7%). 102 of 114 patients (89.5%) reported congenital great-toe malformation. Biopsy was reported by 51 patients (44.7%), of whom 41 (80.4%) reported subsequent worsening; 22 of 25 patients (88.0%) who underwent HO excision reported recurrence or new lesions at the surgical site.\n\nConclusion: Diagnostic errors remained common in FOP. Biopsy and HO excision were also frequently reported in FOP patients and were often followed by patient-reported worsening or recurrence. These findings provide a rationale for prospective evaluation of an early-recognition pathway emphasizing examination of the great toes, avoidance of invasive procedures when FOP is suspected, ACVR1 testing, and specialist referral.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Endocrinology, National Health Commission (NHC) Key Laboratory of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College",
    "State Key Laboratory of Complex, Severe, and Rare Diseases, Institute of Clinical Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College",
    "Department of Orthopedic Oncology, Beijing Jishuitan Hospital, Capital Medical University"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 15,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Lijia Cui"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Quanshi Ouyang"
    },
    {
      "affs": [
        1
      ],
      "name": "Jian Guo"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Wanping Cai"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Qianqian Pang"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Yue Chi"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Ruizhi Jiajue"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Xiang Li"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Wei Liu"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Yan Jiang"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Ou Wang"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Mei Li"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Xiaoping Xing"
    },
    {
      "affs": [
        2
      ],
      "name": "Qiming Xu"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Weibo Xia"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/fnbw9d7q1g7fr.bib",
  "cited_by": 0,
  "doi": "10.3389/fendo.2026.1941326",
  "fulltext_url": "https://europepmc.org/articles/PMC13713263",
  "id": "fnbw9d7q1g7fr",
  "issns": [
    "1664-2392"
  ],
  "landing_url": "https://www.frontiersin.org/articles/10.3389/fendo.2026.1941326/full",
  "language": "eng",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Original Research"
    ],
    [
      "openalex",
      "2745|Heterotopic Ossification and Related Conditions"
    ]
  ],
  "openalex": "W7221800990",
  "pdf_url": "https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2026.1941326/pdf",
  "pmcid": "PMC13713263",
  "pmid": "42952475",
  "published": "2026-10-14",
  "publisher": "Frontiers Media SA",
  "ris": "https://research.draconitic.com/paper/fnbw9d7q1g7fr.ris",
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    {
      "first_seen": "2026-10-30T12:20:20Z",
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  "subjects": [
    {
      "field": "medicine",
      "origin": "issn:1664-2392",
      "subfield": "endocrinology-metabolism"
    }
  ],
  "title": "The diagnostic journey of fibrodysplasia ossificans progressiva: evidence from a national cohort of 114 patients",
  "title_text": "The diagnostic journey of fibrodysplasia ossificans progressiva: evidence from a national cohort of 114 patients",
  "type": "peer-reviewed",
  "updated_at": "2026-11-01T12:20:58Z",
  "url": "https://research.draconitic.com/paper/fnbw9d7q1g7fr",
  "venue": "Frontiers in Endocrinology",
  "versions": []
}