Primary hypertrophic osteoarthropathy type 2 presenting as an acromegaly mimic with enteropathy.
- 1Department of Internal Medicine, Armed Forces Medical College, Pune 411040, India.
- 2Department of Medicine, Armed Forces Medical College, Pune 411040, India.
- 3Department of Medicine, Command Hospital, Southern Command, Pune 411040, India.
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.
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BibTeX
@article{kumar2026primary,
title = {{Primary hypertrophic osteoarthropathy type 2 presenting as an acromegaly mimic with enteropathy.}},
author = {Sandeep Kumar and Samir Jung Khatri and T Sreevatsa and Amit Kumar and S K Singh and Suman Kumar},
journal = {JCEM case reports},
year = {2026},
month = nov,
doi = {10.1210/jcemcr/luag342},
url = {https://europepmc.org/article/MED/42996629},
note = {CC BY},
}
RIS
TY - JOUR
TI - Primary hypertrophic osteoarthropathy type 2 presenting as an acromegaly mimic with enteropathy.
AU - Sandeep Kumar
AU - Samir Jung Khatri
AU - T Sreevatsa
AU - Amit Kumar
AU - S K Singh
AU - Suman Kumar
PY - 2026
DA - 2026/11/06
JO - JCEM case reports
DO - 10.1210/jcemcr/luag342
UR - https://europepmc.org/article/MED/42996629
AB - 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.
SN - 2755-1520
ER -