Table 1.
Clinical Characteristics of Patients Diagnosed with Chronic Enteropathy Associated with SLCO2A1 Gene
| Characteristics | Value (n=14) |
|---|---|
| Female sex, No. (%) | 12 (85.7) |
| Age at diagnosis, median (IQR), yr | 44.5 (30.2–50.2) |
| Age at symptom onset, median (IQR), yr | 18.0 (11.7–32.5) |
| Interval from symptom onset to diagnosis, median (IQR), yr |
13.5 (10.7–19.2) |
| Family history of CEAS, No. (%) | 5 (35.7) |
| History of taking NSAIDs, No. (%) | 4 (28.6) |
| Positive for tuberculosis tests, No. (%)* | 1 (7.1) |
| Symptoms, No. (%) | |
| Abdominal pain | 14 (100.0) |
| Loose stool | 7 (50.0) |
| Weight loss | 3 (21.4) |
| GI bleeding | 3 (21.4) |
| History of bowel resection, No. (%) | 7 (50.0) |
| Involved GI tract, No. (%) | |
| Esophagus | 0 |
| Stomach | 2 (14.3) |
| Duodenum | 5 (35.7) |
| Jejunum | 6 (42.9) |
| Ileum | 13 (92.9) |
| Terminal ileum-saved | 3 (21.4) |
| Colon | 2 (14.3) |
| Clinical manifestations of PHO, No. (%) | |
| Digital clubbing | 5 (35.7) |
| Pachydermia | 3 (21.4) |
| Periostosis | 4 (28.6) |
| Joint pain | 4 (28.6) |
| Laboratory data, median (IQR) | |
| Hemoglobin, g/dL | 9.6 (7.9–10.0) |
| Protein, g/dL | 5.2 (4.6–6.0) |
| Albumin, g/dL | 2.7 (2.1–3.0) |
| ESR, mm/hr | 7.0 (3.0–8.0) |
| CRP, mg/dL | 0.4 (0.1–0.8) |
| Fecal calprotectin, µg/g | 789 (211–1,297) |
IQR, interquartile range; CEAS, chronic enteropathy associated with SLCO2A1 gene; NSAIDs, nonsteroidal anti-inflammatory drugs; GI, gastrointestinal; PHO, primary hypertrophic osteoarthropathy; ESR, erythrocyte sedimentation rate; CRP, C-reactive protein.
*Tuberculosis tests included a tuberculin skin test, interferon-gamma release assay, tuberculosis-specific ELISPOT assay, and acid-fast bacilli stain, Mycobacterium tuberculosis culture and polymerase chain reaction of intestinal biopsy tissue.