A 31-year-old man was admitted to our hospital due to recurrent abdominal pain and
intermittent melena for 9 years. He also suffered from skin thickening and digital clubbing
since adolescence (Fig. 1
A and B). He denied intake of non-steroidal, anti-inflammatory drugs. Blood tests revealed
normocytic normochromic anemia (hemoglobin, 110 g/dL). Other examinations such as
T-SPOT.TB, autoantibody biomarkers, cytomegalovirus, Epstein-Barr virus, and growth
hormone level were normal. X-ray showed irregular cortical thickening of the tibiofibular
and hand (Fig. 1
C). Computed tomography enterography (CTE) demonstrated the segmental wall thickening
of the ileum (Fig. 1
D). Gastroscopy and colonoscopy were performed, with no abnormalities noted. Double-balloon
enteroscopy revealed multiple, superficial, eccentric oblique or circular ulcers,
with mild luminal stricture in the middle and lower parts of ileum (Fig. 1
E). Biopsy samples confirmed chronic non-specific mucosal inflammation. During the
multidisciplinary discussion, the clinical diagnosis of primary hypertrophic osteoarthropathy
(PHO) was suggested. Further genetic analysis identified a homozygous mutation of
SLCO2A1 gene: c.290G>A
(p.Arg97His) in exon 3. Therefore, the patient was definitely diagnosed as chronic
enteropathy associated with SLCO2A1 gene (CEAS) and PHO [
- Tran T.H.
- Luu B.T.
- Pham A.D.
- et al.
Diagnosis and management of a patient with primary hypertrophic osteoarthropathy with
SCLO2A1 Pathogenic Variants in Vietnam.
]. CEAS is a rare genetic disease related to SLCO2A1 mutations, which can involve the
gastrointestinal tract, skin and bone [
Primary hypertrophic osteoarthropathy.
]. There is no effective treatment for CEAS at present. CEAS is a different entity
from other inflammatory gastrointestinal diseases.