{
  "abstract": "Primary hypertrophic osteoarthropathy (PHO) is a rare genetic disorder characterized by digital clubbing, pachydermia, and periostosis that frequently mimics acromegaly. Autosomal recessive pathogenic variants in SLCO2A1 cause PHO type 2 (PHOAR2) and are uniquely associated with chronic enteropathy associated with SLCO2A1 (CEAS). We report a 39-year-old male evaluated for acromegaly due to progressive coarse facies, cutis verticis gyrata, and profound limb clubbing. Endocrine workup demonstrated a normal growth hormone (GH) suppression test (GH nadir 0.76 ng/mL [SI: 0.76 µg/L]; reference range, <1 ng/mL [SI: <1 ug/L]) and a low-normal insulin-like growth factor 1 of 78 ng/mL (SI: 10.2 nmol/L) (reference range, 80-220 ng/mL [SI: 10.5-28.8 nmol/L]), attributable to nutritional suppression from chronic enteropathy, definitively excluding acromegaly. Severe microcytic anemia (hemoglobin 5.9 g/dL [SI: 59 g/L]; reference range, 13.0-17.0 g/dL [SI: 130-170 g/L]) resulted from gastrointestinal bleeding. Deliberate terminal ileoscopy identified an ulcerated ileocecal valve confirming CEAS. Radiography showed extensive periostosis and a normal sella turcica. Next-generation sequencing identified a homozygous SLCO2A1 pathogenic variant (c.764G>A, p.Gly255Glu), confirming PHOAR2-CEAS syndrome. Etoricoxib (120 mg daily) provided partial symptomatic relief. This case illustrates that digital clubbing in a patient with acromegaloid features mandates SLCO2A1 genetic evaluation, avoiding unnecessary pituitary investigation.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Internal Medicine, Armed Forces Medical College, Pune 411040, India.",
    "Department of Medicine, Armed Forces Medical College, Pune 411040, India.",
    "Department of Medicine, Command Hospital, Southern Command, Pune 411040, India."
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 6,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Sandeep Kumar",
      "orcid": "0000-0001-5243-8942"
    },
    {
      "affs": [
        1
      ],
      "name": "Samir Jung Khatri",
      "orcid": "0009-0008-1425-3363"
    },
    {
      "affs": [
        2
      ],
      "name": "T Sreevatsa",
      "orcid": "0000-0003-4478-4065"
    },
    {
      "affs": [
        2
      ],
      "name": "Amit Kumar"
    },
    {
      "affs": [
        0
      ],
      "name": "S K Singh"
    },
    {
      "affs": [
        0
      ],
      "name": "Suman Kumar",
      "orcid": "0009-0003-6772-5604"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/bbt4n5yxcht5v.bib",
  "cited_by": 0,
  "doi": "10.1210/jcemcr/luag342",
  "fulltext_url": "https://europepmc.org/articles/PMC13740697",
  "id": "bbt4n5yxcht5v",
  "issns": [
    "2755-1520"
  ],
  "landing_url": "https://europepmc.org/article/MED/42996629",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2745|Hypertrophic osteoarthropathy and related conditions"
    ]
  ],
  "openalex": "W7225398523",
  "pdf_url": "https://europepmc.org/articles/PMC13740697?pdf=render",
  "pmcid": "PMC13740697",
  "pmid": "42996629",
  "published": "2026-11-06",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/bbt4n5yxcht5v.ris",
  "sources": [
    {
      "first_seen": "2026-11-09T15:20:34Z",
      "native_id": "MED:42996629",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42996629"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "journal-openalex:2712|Pituitary Gland Disorders and Treatments",
      "subfield": "endocrinology-metabolism"
    }
  ],
  "title": "Primary hypertrophic osteoarthropathy type 2 presenting as an acromegaly mimic with enteropathy.",
  "title_text": "Primary hypertrophic osteoarthropathy type 2 presenting as an acromegaly mimic with enteropathy.",
  "type": "peer-reviewed",
  "updated_at": "2026-11-09T15:20:34Z",
  "url": "https://research.draconitic.com/paper/bbt4n5yxcht5v",
  "venue": "JCEM case reports",
  "versions": []
}