[Recurrent hemolysis and iron overload of unclear origin]. / Rezidivierende Hämolysen und Eisenüberladung unklarer Genese.

The case of a 33-year-old male with recurrent icterus and hemolysis since childhood that was long mistaken for Gilbert disease is presented. Subsequently, the patient also developed splenomegaly and gallstones together with iron overload. Genetic testing revealed the diagnosis of hereditary xerocytosis, which is an erythrocyte membrane disorder causing recurrent hemolysis. Xerocytosis is often challenging to diagnose and the frequency of the condition might be underestimated as there are often no typical findings in the microscopic differential blood count, and Eosin-5-maleimide dye (EMA) test, which is used to diagnose other erythrocyte membrane disorders, is normal. In cases of splenomegaly, iron overload and recurrent hemolysis, or in the case of a clinical diagnosis of Gilbert disease together with one of the above-mentioned symptoms, further investigations and possibly also genetic testing should be considered.

Bleeding Dieulafoy lesions of the small bowel: a systematic study on the epidemiology and efficacy of enteroscopic treatment.

BACKGROUND: Dieulafoy lesions consist of aberrant submucosal arteries, which can cause severe GI bleeding. The predominant location of Dieulafoy lesions is the upper GI tract. OBJECTIVE: To our best knowledge, this is the first systematic study on the frequency of bleeding from Dieulafoy lesions in the small bowel and the efficacy of enteroscopic therapy regarding primary hemostasis and long-term follow-up. DESIGN: Multicenter, retrospective, observational study. SETTING: Nine Austrian centers doing double-balloon enteroscopy or single-balloon enteroscopy. PATIENTS: This study involved 284 consecutive patients who were referred for double-balloon enteroscopy or single-balloon enteroscopy because of suspicion of mid-GI bleeding. INTERVENTION: A total of 317 double-balloon enteroscopy and 78 single-balloon enteroscopy procedures were performed in 284 patients with suspected mid-GI bleeding. MAIN OUTCOME MEASUREMENTS: Demographic, clinical, procedural, and outcome data were collected. RESULTS: A Dieulafoy lesion in the small bowel was identified as the source of mid-GI bleeding in 3.5% of patients, with a mean of 1.5 enteroscopy sessions required per diagnosis. In 9 cases the Dieulafoy lesion was found by enteroscopy from an oral approach, and in 1 patient the lesion was found by an anal approach. In all patients primary endoscopic hemostasis was successful. Eight of 10 patients were free from rebleeding episodes (median follow-up 14.5 months, interquartile range 10.0-17.5 months). In 2 of 10 patients, rebleeding occurred, and a surgical intervention was necessary. LIMITATIONS: Retrospective study. CONCLUSION: Bleeding from Dieulafoy lesions of the small bowel seems to occur more frequently than previously estimated. Most of these lesions are located in the proximal jejunum and can be managed successfully by enteroscopy. After successful endoscopic hemostasis, rebleeding episodes occur in only 20% of patients.