PMC7807103_01
a: Erosion of the small intestine was revealed by video capsule endoscopy (VCE) (white arrow). b: Small intestinal ulcers surrounded by erythematous mucosal changes were revealed by VCE (yellow arrow).
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TP, 7.4 g/dL, alb 4.1 g/dL, CRP, 0.26 mg/dL, and at the time of relapse were Hb, 9.9 g/dL; TP, 6.5 g/dL, alb 3.6 g/dL, CRP, 2.3 mg/dL. The time-course changes of hemoglobin and albumin are demonstrated in Fig. 1. However, as shown in Fig. 1, the effect of oral mesalazine for albumin and Hb fluctuated during the time course. The albumin, Hb as shown in Fig. 1, and inflammation fluctuated during the time course, and the patient occasionally has diarrhea.
a, b: Double balloon enteroscopy (DBE) demonstrated oblong or longitudinal ulcers in the mid-ileum. c, d: DBE demonstrated an amelioration following mesalazine treatment (201X+2/2), showing residual small ulceration in the ileum after mesalazine treatment, but a marked improvement compared to that before mesalazine treatment.
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Video capsule endoscopy (VCE) revealed multiple nonspecific ileal ulcers of various sizes and shapes (Fig. 2).
a: Long bones of the limb demonstrated primary hypertrophic osteoarthropathy (PHO). b: Brain-CT showed skin hypertrophy.
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Double balloon enteroscopy (DBE) and VCE showed multiple longitudinal and spiral ulcers in the ileum except in the terminal ileum (Fig. 3a, b). Although the multiple longitudinal and spiral ulcers in the ileum remained, those ulcers showed improvement, with evidence of granulation, after treatment with mesalazine 3,000 mg/day per oral (p.o.) (Fig. 3c, d).
a, b: Hematoxylin and Eosin staining of tissue specimens from ileal ulcers showed a small granuloma (a: x20, b: x100) (white arrow). c: Immunohistochemistry demonstrated that this small granuloma had CD68-positive histiocytes (x20) (white arrow).
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Bone radiography indicated periostosis of the fingers and long bones in the limb (Fig. 4a). Brain-CT revealed skin hypertrophy (Fig. 4b).
a: The patient had digital clubbing. b: The patient had a deeply wrinkled forehead and a chiseled face.
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A pathological examination of the ileal ulcers showed non-specific inflammation (Fig. 5a, b). Immunohistochemistry demonstrated CD68-positive histiocytes of a small granuloma (Fig. 5c).
Immunohistochemistry for SLCO2A1 protein in the vascular endothelium of the ileal mucosa. The patient did not express normal SLCO2A1 protein (upper: white arrow). Normal SLCO2A1 protein was expressed in the vascular endothelium of healthy control tissue (lower: white arrow).
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The patient exhibited digital clubbing (Fig. 6a), a deeply wrinkled forehead, and a chiseled face (Fig. 6b).
Next-generation sequencing (Sanger sequencing) for SLCO2A1 gene mutation in the patient and a healthy control. The homozygous mutation c.1807C>T was detected in SLCO2A1 in this case.
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Immunohistochemical studies of SLCO2A1 expression in the vascular endothelial cells of ileal ulcers showed that the patient did not express normal SLCO2A1 protein (Fig. 7).
Clinical course of treatment and responsiveness. Time course changes of albumin (a) and hemoglobin (b) showing responsiveness to mesalazine and iron agent.
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In addition, next-generation sequencing revealed a point mutation of the 1807C>T homo-mutation in the 13 exon allele of SLCO2A1 (Fig. 8).