Autoimmune Polyglandular Syndrome Type II Associated with Jejunal Gastrointestinal Stromal Tumor: Diagnosis by Capsule Endoscopy

A 49-year-old woman with autoimmune polyglandular syndrome type II (Addison’s disease and hypothyroidism) was referred to our department, as she was suffering from persistent iron-deficiency anemia and had positive results from fecal occult blood test. The history of bleeding was approximately 3 years during which period she had been treated with iron supplementation. Mean Hb concentration was 8.4 g/100 ml (range 6.1-11.7). Previous diagnostic investigations had included two esophagogastroduodenoscopies, two total colonoscopies, a ⁹⁹Tc-labeled red cells scan, a ⁹⁹Tc-pertechnetate scan, a small-bowel follow-through investigation, and a computed tomography (CT) scan. All these tests had failed to identify the source of bleeding.

Capsule endoscopy was performed and identified a small-bowel mass. Rapid^R location showed the lesion to be in the upper left midline, and it was estimated to be in the proximal jejunum area (Figure [1]). Push enteroscopy was subsequently carried out and confirmed an ovoidal umbilicate protruding mass of the proximal jejunum (size 4 cm) (Figure [2]). The lesion was resected laparoscopically. The gross specimen of resected small bowel showed that the tumor had a large extraluminal component. No pathological lymph nodes or liver metastases were found. Histopathological investigation demonstrated a highly cellular spindle-cell tumor which turned out to be a gastrointestinal stromal tumor (GIST) expressing Kit (CD117 antigen) (Figure [3]).

Tumors of the small bowel comprise 5 % to 7 % of all gastrointestinal tumors. The most important symptom in cases of small-bowel neoplasia is undoubtedly obscure bleeding with secondary iron-deficiency anemia. Indeed, small-bowel tumors are the second most common cause of obscure gastrointestinal bleeding, accounting for 5 % to 10 % of all cases of chronic blood loss. Among patients with obscure gastrointestinal bleeding, small-bowel tumors are the single most common lesion in patients younger than 50 years [1]. The median time to diagnosis for patients with obscure bleeding has been estimated as 2 years [2]. Delays in diagnosis may alter the outcome, and should be minimized whenever possible. Careful utilization of diagnostic examinations may lead to early identification of a potential small-bowel bleeding source and may help improve the diagnostic outcome while decreasing the cost of hospitalization.

Our patient was ultimately diagnosed by means of capsule endoscopy to have a small-bowel tumor and underwent curative surgery. If capsule endoscopy is carried out early in the course of the work-up of these patients (i. e. immediately after negative esophagogastroduodenoscopy and colonoscopy), it could shorten considerably the time necessary to reach a diagnosis and allow the early institution of definitive treatment in a significant proportion of patients [3].

Figure 1 Capsule endoscopy revealed a mass in the proximal jejunum.

Figure 2 Push enteroscopy confirmed an ovoidal umbilicate protruding jejunal mass.

Figure 3 Histopathological examination revealed a highly cellular spindle-cell gastrointestinal stromal tumor (GIST) expressing Kit (CD117 antigen).

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References

• 1 Rossini F P, Risio M, Pennazio M. Small bowel tumors and polyposis syndromes.  Gastrointest Endosc Clin N Am. 1999;  9 93-114
• 2 Zuckerman G R, Prakash C, Askin M P, Lewis B S. AGA technical review on the evaluation and management of occult and obscure gastrointestinal bleeding.  Gastroenterology. 2000;  118 201-221
• 3 Ell C, Remke S, May A, Helou L. et al . The first prospective controlled trial comparing wireless capsule endoscopy with push enteroscopy in chronic gastrointestinal bleeding.  Endoscopy. 2002;  34 685-689