Sónia Fernandes

Erythema induratum and chronic hepatitis C infection

Erythema induratum, or nodular vasculitis, was initially described as a type of cutaneous tuberculosis. Currently, it is considered a multifactorial syndrome of lobular panniculitis of unknown cause. An association between erythema induratum and hepatitis C virus (HCV) has been suggested in previous reports. We report the case of a 49-year-old male presenting with a 3-year history of itchy, painful red to violaceous cutaneous nodules and plaques on both legs that had been unresponsive to topical dermatologic treatments. Evaluation of persistent serum transaminase elevations led to a diagnosis of chronic hepatitis C with bridging liver fibrosis. A thorough evaluation to exclude mycobacterial infection was performed, and anti-tuberculosis treatment was started based on a positive QuantiFERON test. There was no improvement in the skin lesions with this treatment. The patient then received standard antiviral therapy with pegylated interferon and ribavirin for 48 weeks. Treatment produced an early virologic response with significant improvement in the skin lesions, pain and pruritus. Six months after antiviral treatment, virologic relapse occurred without recurrence of the cutaneous lesions. There appears to be an association between erythema induratum and hepatitis C infection, probably mediated by circulating immune complexes. Interestingly, lesions improve with antiviral treatment and, as shown in this case, the effect may be sustained after stopping treatment despite virologic relapse.

Impact of Histological and Endoscopic Remissions on Clinical Recurrence and Recurrence-free Time in Ulcerative Colitis

Background: Clinical and endoscopic remissions constitute the therapeutic goals in ulcerative colitis (UC). Histological healing is currently not a target in UC. This study aims to determine the impact of the definition of endoscopic remission (Mayo endoscopic subscore [MSe] 0–1) and histological activity in the recurrence of UC and recurrence-free survival time. Methods: Patients with UC in clinical remission (partial Mayo score ⩽ 1) and endoscopic remission (MSe ⩽ 1) who underwent colonoscopy with biopsies between March 2010 and December 2013 were included. The validated Nancy score was used to evaluate histological activity, which considers inactivity if 0 to 1 and activity if 2 to 4. The recurrence-free time was evaluated and recurrence was defined as partial Mayo score ≥ 2, therapy to induce remission, hospitalization, or colectomy. Predictive factors associated with recurrence and time to recurrence were determined. Results: Sixty patients were included; 58.3% (n = 35) were women, with a mean age of 52.7 years. MSe = 1 was observed in 46.7% (n = 28) and histological activity in 38.3% (n = 23). Clinical recurrence occurred in 31.7% (n = 19) of patients, with a cumulative risk of 17.1%/24.5%/26.7%/40.1% at 12/24/36/48 months, respectively. MSe = 1 (P = 0.02) and histological activity (P = 0.007) were significantly associated with recurrence. Of these, only histological activity (P = 0.03) was an independent predictive factor of recurrence. Patients with MSe = 1 (P = 0.02) and with histological activity (P = 0.01) had a significantly shorter recurrence-free time in univariate analysis. In multivariate analysis, only histological activity (P = 0.02) was an independent predictive factor of lower recurrence-free time. Conclusion: The presence of histological activity represents an independent predictive factor of recurrence and time to recurrence, which was not verified with MSe 0 to 1.

Squamous cell carcinoma in enterocutaneous fistula associated with Crohn's disease: First case report

Dear Sir, Malignant transformation of fistulas in Crohns disease (CD) patients is rare. Prior studies mainly focused on perianal fistulas as a complication of CD, and little is known about carcinoma in enterocutaneous fistulas. There are increasing concerns that chronic immunosuppression with azathioprine, widely used for remission maintenance and post-operative recurrence prevention in CD, could increase the risk of cancer in this patients. A 38-year-old female, non-smoker was referred to our outpatient clinic in 2011, with penetrating ileocolic CD diagnosed at 16 (A1L3B3, Montreal classification). At age 19, she underwent a total colectomy with ileo-rectal anastomosis in the referring institution, which was complicated …

Endoscopic resection as a treatment for duodenal gangliocytic paraganglioma

An 80-year-old man was referred to our department due to a duodenal mass found on upper endoscopy, performed for evaluation of ferropenic iron anemia. History taking revealed no particular issues other than antihypertensive medication. He had no abdominal pain, weight or blood loses and his physical examination was uneventful. Laboratory blood tests revealed a hemoglobin of 9.3 g/dl, serum iron of 21 g/dl, ferritin of 12.3 ng/ml and transferrine of 9.1%. In our department, endoscopic re-evaluation showed, immediately proximal to the ampulla, a 3 cm pedunculated and ulcerated subepithelial lesion (Fig. 1). Endoscopic ultrasound (EUS) revealed a well-circumscribed, homogeneous and hypoechoic mass with origin in the submucosal layer, with no lymph nodes (Fig. 2). No lymph node or other organ affection was found on abdominal and pelvic CT. After a multidisciplinary discussion an endoscopic approach was decided. A snare polypectomy was performed (Fig. 3) and the histopathological and immunochemical evaluation revealed a gangliocytic paraganglioma (GP). No evidence of endoscopic and histological recurrence was observed on follow-up EGD after one year. No iron deficiency was present at this time. GP is a rare submucosal tumor that occurs most frequently in the second portion of the duodenum, near the ampulla of Vater. The most common clinical manifestation is gastrointestinal bleeding (45.1%), followed by abdominal pain (42.8%) and anemia (14.5%).1 There are no endoscopic or echoendoscopic pathognomonic findings of GP. The most common endoscopic features of GPs, such as ulcerations and the presence of a peduncle are also present in other types of submucosal tumors of the duodenum.2 In endoscopic ultrasound (EUS),

The Baveno VI criteria for predicting esophageal varices: validation in real life practice

BACKGROUND AND AIMS According to the Baveno VI consensus, patients with liver stiffness < 20 kPa and a platelet count > 150,000 ul have very low risk of clinically significant varices and do not need a screening endoscopy. The aim of this study was to evaluate non-invasive methods as predictors of esophageal varices according to the Baveno VI recommendations, in real life clinical practice. METHODS Retrospective evaluation of patients with chronic liver disease who underwent transient elastography between January 2013 and December 2015. RESULTS One hundred and four patients were included in the study, the median age was 56.8 years and 69.2% were male. The etiology of liver disease was hepatitis C in 80% of patients (including 20% with HIV co-infection), alcohol in 12%, hepatitis B in 4% and other causes in 5%. Varices were present in 25% of patients. A liver stiffness < 20 kPa had a sensitivity of 92.3% and a specificity of 84.6%. When considering high risk varices (small with red wales or large varices), a liver stiffness < 20 kPa had 100% sensitivity. A platelet count > 150,000/l had a sensitivity of 84.6% and a specificity of 64.1%. Four patients with a platelet count (PLT) > 150,000/l had esophageal varices. When both criteria were applied to the patient cohort, according to the Baveno VI consensus, the sensitivity was 100% and the specificity, 61.5%. CONCLUSION In this study, the Baveno VI criteria had 100% sensitivity but a relatively low specificity for the non-invasive diagnosis of esophageal varices. In clinical practice, all patients with varices are identified but many patients have a subsequent negative endoscopy.

Is H63D a ‘minor’ HFE polymorphism?

Iron overload is associated with a variety of genetic and acquired conditions. Of these, HFE-hemochromatosis is by far the most frequent, well-defined inherited cause, and the majority of patients are homozygotes for the C282Y polymorphism. H63D is considered a ‘minor’ HFE polymorphism1 but some clinical studies suggest an association between H63D homozygosity and iron overload. However, its role in the development of iron overload remains unclear. We aimed to study the prevalence and phenotypic expression of H63D homozygotes in a cohort of patients referred to our hepatology clinic.

A Large Gastric Inflammatory Fibroid Polyp

Inflammatory fibroid polyp (IFP) is an unusual benign gastrointestinal subepithelial tumor (SET). The endosonographic (EUS) features of IFPs were sporadically reported on imaging tips or small case series study. However, the differential diagnosis and optimal treatment of gastric IFP is still challenging. We report an unusual case of a large erosioned and prolapsing gastric submucosal lesion, presenting primarily with obstructive symptoms (“ball valve syndrome”) and anemia. On EUS examination, a 50 mm SET in the distal antrum was seen, with hypoechoic but heterogeneous echo-pattern, located in the second and third sonographic layers of the gastric wall (deep mucosal and submucosal). The fourth (muscle) layer was intact; no peri-lesional adenopathies were identified. A decision was made to proceed to endoscopic treatment because of the mentioned symptoms. Histopathologic evaluation of the resected specimen with immunohistochemical staining was consistent with the diagnosis of IFP. IFP rarely reach these large dimensions or cause symptoms. Despite its benign etiology, endoscopic resection was important in both establishing a histologic diagnosis and treatment. EUS was crucial in the differential diagnosis. The literature concerning IFP is also reviewed.

Symptomatic Duodenal Duplication Cyst Treated Endoscopically

A 21-year-old woman with no past relevant clinical history was admitted to the emergency department for acute abdominal pain. Physical examination revealed normal blood pressure, pulse and temperature with mild epigastric tenderness. Laboratory tests showed leukocytosis (16.35 × 103/μL) and elevated C-reactive protein (20.53 mg/dL) with normal cholestasis and pancreatic tests. An ultrasound and subsequently a computed tomography scan showed a duodenopancreatic cystic inflammatory lesion with 30 × 24 mm in the third portion of the duodenum with edema of the surrounding mucosa and fat. The common bile and pancreatic duct were normal. Antibiotics were initiated and she was discharged asymptomatic after 13 days. To clarify the diagnosis, a magnetic resonance cholangiopancreatography revealed a simple cystic lesion in the second portion of the duodenum without enhancement with contrast in the hepatocellular phase (Fig. 1) and endoscopic ultrasound showed a subepithelial anechoic, well-delimited lesion in the second portion of the duodenum with 18 × 11 mm arising from the submucosa (Fig. 2), compatible with duodenal duplication cyst. The papilla of Vater was in the base of the lesion and the biliary and pancreatic tree were normal with no communication with the cyst. After multidisciplinary discussion, it was decided to provide endoscopic treatment, which was performed 3 months after the acute episode. The patient was submitted to endoscopically guided fenestration by performing an incision of the cyst with a Mori knife (Fig. 3). A guidewire was placed into the cyst and the cyst wall was deroofed using a sphincterotome. The opening was further widened with a balloon with drainage of transparent fluid.

Terminal Ileitis Found Upon Imaging: Is It Always Crohn's Disease?

To the Editor: Terminal ileitis (TI), defined as inflammation of the terminal ileum, is a common condition in clinical practice and is classically associated with Crohns disease (CD). However, a wide variety of diseases may be associated with ileitis (1,2). Diagnosis of the specific cause of ileitis is of paramount importance because misdiagnosis may result in critical delays or errors in patient management (3,4,5). Nonetheless, distinguishing between the various forms of ileitis remains a test of clinical acumen. Accurate diagnosis is suggested by a detailed history and physical examination, by laboratory testing, and by ileocolonoscopy and/or radiological evaluation.

Multiple Liver Lesions of Unusual Benign Etiology Mimicking Metastatic Disease

Question: A 41-year-old woman was referred to our outpatient clinic after routine transabdominal ultrasonography revealing multiple liver nodules, up to 13 mm in diameter, scattered throughout both lobes, with hypoechoic to isoechoic center and hyperechoic peripheral halo, interpreted as suspicious for metastatic disease (Figure A). Abdominal computed tomography confirmed multiple widespread liver lesions, characterized by a hypodense donut-shaped appearance with a normodense center. No further pathologic findings were seen. Her past medical history was unremarkable. There were no relevant findings on physical examination. Laboratory investigation was only pertinent for mild iron overload (hyperferritinemia, 265.1 mg/mL; transferrin saturation, 57.5%). HFE gene mutation analysis revealed H63D homozygosity. Suspecting malignant disease, she had already been submitted to a thorough diagnostic workup with chest x-ray, gastroscopy, colonoscopy, and gynecologic examination that were unrevealing; tumor markers were within normal range. Subsequent magnetic resonance imaging confirmed the presence of multiple nodular, well-delineated lesions throughout the liver. On T2-weighted sequences these lesions appeared hyperintense to the surrounding liver parenchyma (Figure B), whereas no lesions could be seen on fat-suppressed T2-weighted images (Figure C). Furthermore, no signs of focal lesions on fat-suppressed T1-weighted sequence were found, after intravenous gadolinium-DTPA administration. To aid the differential diagnosis, ultrasound-guided percutaneous needle biopsy was held. Histologic examination revealed macrovesicular or microvesicular steatosis, chronic inflammatory infiltrate, pericellular fibrosis, or siderosis (Figure D, E). There was no evidence of malignancy. What is the diagnosis? See the Gastroenterology web site (www.gastrojournal.org) for more information on submitting your favorite image to Clinical Challenges and Images in GI.