Susana Mão de Ferro

Aggressive phenotype of MYH-associated polyposis with jejunal cancer and intra-abdominal desmoid tumor: report of a case.

ABSTRACT: MYH-associated polyposis is an inherited autosomal recessive disease, linked to biallelic germline MYH mutations, which predisposes to the development of multiple colorectal adenomas and cancer. The colonic and extracolonic phenotype of this syndrome is very heterogeneous. We report the case of a young male patient with an aggressive MYH-associated polyposis phenotype. He presented at aged 30 years with more than 100 colonic polyps and 4 colonic adenocarcinomas. At aged 35 years, Spigelman Stage IV duodenal adenomatosis was detected. When he was 39 years old, he developed three synchronous jejunal adenocarcinomas and a mesenteric desmoid tumor. Based on this report, we believe that screening of the entire small bowel should be recommended in MYH-associated polyposis patients, especially in those with duodenal adenomas. Similar to patients with familial adenomatous polyposis, desmoid tumors also may be part of the clinical spectrum of MYH-associated polyposis and may prove to be a significant clinical problem in patients submitted to prophylactic colectomy.

Endoscopic Scores for Evaluation of Crohn's Disease Activity at Small Bowel Capsule Endoscopy: General Principles and Current Applications

The small bowel is affected in the vast majority of patients with Crohns Disease (CD). Small bowel capsule endoscopy (SBCE) has a very high sensitivity for the detection of CD-related pathology, including early mucosal lesions and/or those located in the proximal segments of the small bowel, which is a major advantage when compared with other small bowel imaging modalities. The recent guidelines of European Society of Gastrointestinal Endoscopy (ESGE) and European Crohns and Colitis Organisation (ECCO) advocate the use of validated endoscopic scoring indices for the classification of inflammatory activity in patients with CD undergoing SBCE, such as the Lewis Score or the Capsule Endoscopy Crohns Disease Activity Index (CECDAI). These scores aim to standardize the description of lesions and capsule endoscopy reports, contributing to increase inter-observer agreement and enabling a stratification of the severity of the disease. On behalf of the Grupo de Estudos Português do Intestino Delgado (GEPID) – Portuguese Small Bowel Study Group, we aimed to summarize the general principles and clinical applications of current endoscopic scoring systems for SBCE in the setting of CD, covering the topic of suspected CD as well as the evaluation of disease extent (with potential prognostic and therapeutic impact), evaluation of mucosal healing in response to treatment and evaluation of post-surgical recurrence in patients with previously established diagnosis of CD.

Adenoma incidence decreases under the effect of polypectomy

AIM To investigate whether, under the influence of polypectomy, the incidence of adenoma decreases with age. METHODS Consecutive patients with colonic adenomas identified at index colonoscopy were retrospectively selected if they had undergone three or more complete colonoscopies, at least 24 mo apart. Patients who had any first-degree relative with colorectal cancer were excluded. Data regarding number of adenomas at each colonoscopy, their location, size and histological classification were recorded. The monthly incidence density of adenomas after the index examination was estimated for the study population, by using the person-years method. Baseline adenomas were excluded from incidence calculations but their characteristics were correlated with recurrence at follow-up, using the χ(2) test. RESULTS One hundred and fifty-six patients were included (109 male, mean age at index colonoscopy 56.8 ± 10.3 years), with follow-up that ranged from 48 to 232 mo. No significant correlations were observed between the number, the presence of villous component, or the size of adenomas at index colonoscopy and the presence of adenomas at subsequent colonoscopies (P = 0.49, 0.12 and 0.78, respectively). The incidence of colonic adenomas was observed to decay from 1.4% person-months at the beginning of the study to values close to 0%, at 12 years after index colonoscopy. CONCLUSION Our results suggest the sporadic formation of adenomas occurs within a discrete period and that, when these adenomas are removed, all neoplasia-prone clones may be extinguished.

Efficacy of Long-Term Oral Vitamin B12 Supplementation after Total Gastrectomy: Results from a Prospective Study.

Background/Objectives: Vitamin B12 (VB12) deficiency is a common complication after total gastrectomy which may be associated with megaloblastic anemia and potentially irreversible neurologic symptoms. Intramuscular supplementation of VB12 has been considered the standard treatment, although it is associated with high costs and patient discomfort. Patients/Methods: We performed a prospective uncontrolled study (ACTRN12614000107628) in order to evaluate the clinical and laboratory efficacy of long-term oral VB12 supplementation in patients submitted to total gastrectomy. All patients received daily oral VB12 (1 mg/day) and were evaluated every 3 months (clinical and laboratory evaluation: hemoglobin, VB12, total iron, ferritin, and folate). Results: A total of 26 patients were included with a mean age of 64 years (29-79). Patients were included with a mean period of 65 months (3-309) after total gastrectomy. At inclusion time, 17/26 patients were under intramuscular VB12, and 9 had not started supplementation yet. There were normal serum VB12 levels in 25/26 patients (mean VB12 serum levels: 657 pg/mL). The mean follow-up period was 20 (8.5-28) months. During follow-up, all patients had normal VB12 levels and there was no need for intramuscular supplementation. The patient with low VB12 levels had an increase to adequate levels, which remained stable. There were no differences with statistical significance among VB12 levels at 6 (867 pg/mL), 12 (1,008 pg/mL), 18 (1,018 pg/mL), and 24 (1,061 pg/mL) months. Iron and folate supplementation was necessary in 21 and 7 patients, respectively. Conclusions: Oral VB12 supplementation is effective and safe in patients who underwent total gastrectomy and should be considered the preferential form of supplementation.

Management of Severe Radiation Proctitis with Radiofrequency Ablation

We report the case of a 74-year-old female with a uterine carcinosarcoma with lung metastasis, who underwent pelvic radiotherapy (RT) followed by chemotherapy. Four months after RT, she presented with multiple episodes of rectal bleeding and anemia, requiring regular transfusions. Upper endoscopy was unremarkable and colonoscopy showed erythema, telangiectasias with coalescing patches, friability, and sparse ulcers, extending from the dentate line to the distal sigmoid colon, consistent with severe radiation proctitis (RP). The patient underwent two sessions of argon plasma coagulation (APC) therapy with clinical inefficacy, and required a total of 27 red blood cell transfusions and intravenous iron. Chemotherapy was suspended due to clinical deterioration. Six months after RT, she was admitted with profuse rectal bleeding, hypotension, and severe anemia (hemoglobin of 4.2 g/dL), requiring hemodynamic resuscitation. Colonoscopy revealed several telangiectasias, with multiple clots and oozing bleeding (Fig. 1). Considering the severity and extension of the disease and the limited efficacy of APC therapy, we performed radiofrequency ablation (RFA). Standard bowel preparation with 4 L of polyethylene glycol was done. After cleaning and aspiration of the blood content, the focal Halo90 catheter (Halo® system, Covidien GI Solutions, Sunnyvale, CA, USA) was placed at the 6 o’clock position onto the distal end of the gastroscope (GIF-190, Olympus). The catheter was pressed against the rectal mucosa and 2 energy pulses were applied per site (Fig. 2) (energy of 12 J/cm2, power density of 40 W/cm2). The ablated tissue was not removed after the first energy pulse to promote the hemostatic effect. The treatment was repeated from the proximal border of the radiation changes to the lower rectum. The distal rectum was ablated in retroflexion. Full circumference ablation was avoided to minimize the risk of stenosis [1]. Hemostasis was achieved at the end of the procedure and

Jejunal Lipoma, an Uncommon Cause of Gastrointestinal Bleeding

A 46-year-old male with a past history of arterial hypertension presented with asthenia and melaena. On examination, he presented tachycardia and elevated blood pressure. His blood tests showed microcytic hypochromic anaemia (haemoglobin 6.9 g/ dL). After receiving 2 units of red blood cells, the patient underwent upper endoscopy, which was unremarkable except for gastric fundic gland polyps. Ileocolonoscopy revealed only terminal ileum nodular lymphoid hyperplasia. A capsule endoscopy was done according to the diagnosis of obscure gastrointestinal bleeding. In the 2nd tercile, after a period of 30 min of slow progression, a large polypoid ulcerated mass causing significant luminal deformation was identified (Fig. 1). Antegrade double-balloon enteroscopy was performed and, in the proximal jejunum, a large diverticulum with an ulcerated border adjacent to an ulcerated lesion suggestive of subepithelial origin with approximately 8 cm (Fig. 2) was detected. On the proximal end, a tattoo was made as a reference mark. Extensive biopsies of the ulcer borders revealed only oedema, capillary proliferation, and regenerative features. A CT scan revealed, in the proximal jejunum, a target sign with a central component compatible with adipose tissue, consistent

Buried Barrett’s Esophagus with High-Grade Dysplasia after Radiofrequency Ablation

Radiofrequency ablation therapy is an effective endoscopic option for the eradication of Barrett’s esophagus that appears to reduce the risk of esophageal cancer. A concern associated with this technique is the development of subsquamous/buried intestinal metaplasia, whose clinical relevance and malignant potential have not yet been fully elucidated. Fewer than 20 cases of subsquamous neoplasia after the successful radiofrequency ablation of Barrett’s esophagus have been reported to date. Here, we describe a new case of subsquamous neoplasia (high-grade dysplasia) following radiofrequency ablation that was managed with endoscopic resection. Our experience suggests that a meticulous endoscopic inspection prior to and after radiofrequency ablation is fundamental to reduce the risk of buried neoplasia development.