Clinical Guidelines for Diagnosis and Management of Juvenile Polyposis Syndrome in Children and Adults­Secondary Publication

Juvenile polyposis syndrome (JPS) is a rare disease characterized by multiple hamartomatous polyps within the gastrointestinal tract. SMAD4 or BMPR1A is known as a causative gene of JPS. Approximately 75% of newly diagnosed cases have an autosomal-dominantly inherited condition, whereas 25% are sporadic without previous history of polyposis in the family pedigree. Some patients with JPS develop gastrointestinal lesions in childhood and require continuous medical care until adulthood. JPS is classified into three categories according to phenotypic features of polyp distributions, including generalized juvenile polyposis, juvenile polyposis coli, and juvenile polyposis of the stomach. Juvenile polyposis of the stomach is caused by germline pathogenic variants of SMAD4 with a high risk leading to gastric cancer. Pathogenic variants of SMAD4 are also associated with hereditary hemorrhagic telangiectasia-JPS complex, inducing regular cardiovascular survey. Despite growing concerns regarding the managing JPS in Japan, there are no practical guidelines. To address this situation, the guideline committee was organized by the Research Group on Rare and Intractable Diseases granted by the Ministry of Health, Labor and Welfare involving specialists from multiple academic societies. The present clinical guidelines explain the principles in the diagnosis and management of JPS with three clinical questions and corresponding recommendations based on a careful review of the evidence and involve incorporating the concept of the Grading of Recommendations, Assessment, Development, and Evaluation system. Herein, we present the clinical practice guidelines of JPS to promote seamless implementation of accurate diagnosis and appropriate management of pediatric, adolescent, and adult patients with JPS.

A case of Cronkhite-Canada syndrome with repeated linked color imaging observation of the subepithelial capillary network in the colon.

Cronkhite-Canada syndrome (CCS) is a non-hereditary disorder characterized by non-neoplastic gastrointestinal polyposis and ectodermal changes. While corticosteroids are considered effective, some cases are refractory. A 48-year-old woman presented with diarrhea, anorexia, and epigastralgia lasting for 3 months. She suffered from alopecia and nail dystrophy. Gastrointestinal endoscopy with histological examination confirmed non-neoplastic polyposis from the stomach to the rectum, confirming the diagnosis of CCS. Linked color imaging (LCI) with magnified endoscopy revealed a ribbon-like proliferation of capillaries surrounding the pits in the colonic mucosa. Histologically, the polyps had dilated glands, edematous stroma with inflammatory cell infiltrates and increased capillaries just beneath the epithelium. Immunohistochemical examination confirmed the expression of vascular endothelial growth factor (VEGF), mainly in the superficial epithelial and crypt cells. Steroid therapy was ineffective, and concomitant infliximab therapy provided symptomatic relief. Although symptoms rapidly improved with combination therapy, capillary hyperplasia and slight inflammation persisted in the colon mucosa after polyp resolution. Withdrawal of steroid treatment resulted in flare-ups of symptoms and polyps. Repeated magnified observations at LCI during post-relapse retreatment clearly captured the resolution process of both neovascularization and inflammation. Once the capillary hyperplasia and inflammation subsided, the steroid could be tapered off without relapse. To our knowledge, this is the first report describing the involvement of VEGF-induced angiogenesis and LCI findings in CCS; LCI observations are useful not only in the active phase of CCS, but also in determining subtle capillary hyperplasia and residual inflammation in remission, which may be an indicator of continued treatment.

Detección de pólipos en intestino delgado en pacientes con acromegalia mediante cápsula endoscópica / No disponible

ANTECEDENTES: se desconoce la prevalencia de pólipos en intestino delgado (ID) en pacientes acromegálicos. OBJETIVO: evaluar la prevalencia de pólipos/tumores en ID en pacientes acromegálicos. Material: estudio prospectivo observacional que compara la prevalencia de pólipos/tumores utilizando cápsula endoscópica con un protocolo estandarizado en pacientes asintomáticos con acromegalia y pacientes no acromegálicos con dolor abdominal, diarrea o anemia. RESULTADOS: se incluyeron 183 casos (61 acromegálicos y 122 no acromegálicos). Se encontraron seis (9,8%) y tres (2,5%) pólipos respectivamente (RR: 4 [IC 95%, 1,03-15,45; p = 0,038]). Sin diferencias en tumores (n = 4, 6,6% vs. n = 7, 5,7%). CONCLUSIONES: la acromegalia puede asociar más pólipos en ID

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Resección endoscópica mucosa en el tratamiento de la cap poliposis / No disponible

Cap-poliposis es un síndrome benigno poco frecuente caracterizado por la aparición de pólipos cólicos de aspecto inflamatorio cubiertos por un exudado fibrinopurulento. La diarrea mucosa y sangrado rectal son síntomas frecuentes. En ocasiones resulta difícil su diagnóstico y es necesario realizar el diagnóstico diferencial con otras entidades. Su patogenia es desconocida y su evolución variable. El tratamiento no está claramente establecido

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Poliposis linfomatosa pseudotumoral en íleon terminal secundaria a linfoma MALT gastrointestinal / Pseudotumor lymphomatous polyposis of the ileum in a patient with gastrointestinal MALT lymphoma

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Gastric cancer and paraneoplastic dermatomyositis as complications of an unrecognized juvenile polyposis syndrome.

Juvenile polyposis syndrome is a rare autosomal-dominant disorder characterized by multiple hamartomatous polyps in the gastrointestinal tract. It is associated with an increased risk of gastrointestinal cancer. We report the case of a 49-year-old woman presenting with proximal muscle weakness, weight loss, severe anemia, and melena. One year before, the diagnosis of a "fundic gland polyposis" was presumed after endoscopic evaluation for iron deficiency anemia had shown numerous polyps limited to the gastric mucosa. On admission, the diagnosis of dermatomyositis was made based on laboratory results with a marked elevated creatine kinase as well as the presence of characteristic clinical findings and muscle histology. Upper endoscopy revealed multiple pedunculated, edematous polyps in the stomach without apparent cancerous lesions intraluminally. Infiltration of the muscular layer was not detectable on endoscopic ultrasound. Histopathological examination of the polyps showed smooth outer surfaces and multiple dilated cystic glands, consistent with hamartomatous juvenile-type polyps. Magnetic resonance imaging revealed a peritoneal mass close to the greater curvature of the stomach, which was identified as a poorly differentiated adenocarcinoma by laparoscopic sampling. Immunohistochemical analysis of resected polyps was remarkable for a loss of SMAD4 expression, a finding that is very commonly observed in patients with gastric juvenile polyposis syndrome. Despite initial treatment response to glucocorticoids and chemotherapy, the patient died 5 months later due to progressive illness. Patients with gastric juvenile polyposis and SMAD4 mutations are at a high risk of developing gastric cancer; hence, early gastrectomy should be considered.

Negative video capsule enteroscopy - what's the next step? / Enteroscopia de videocápsula negativa: ¿cuál es el próximo paso?

Video capsule endoscopy (VCE) is a reliable noninvasive method for examination of small-bowel mucosa. However, it has some limitations. The aim of this article was to review the approach in patients with negative VCE. It is clear that a negative VCE should be interpreted based on the indication. In suspected small bowel bleeding (SSBB), patients with ongoing/recurrent overt bleeding, or occult bleeders who experience significant declines in hemoglobin after a negative VCE should proceed small bowel study; on the other hand, patients with occult SSBB and only mild-moderate anemia should be managed with supportive care. In inflammatory bowel disease, a normal VCE has a very high sensitivity and negative predictive value. In small bowel tumor suspicion there is a high risk of false negative results, so another imaging modality should be considered. In polyposis syndromes, if VCE is negative, patients should continue screening within 2-3 years

La videocápsula endoscópica (VCE) es un método fiable no invasivo para la exploración de la mucosa del intestino delgado. Sin embargo, presenta algunas limitaciones. El objetivo de este artículo fue revisar el abordaje de algunos pacientes con VCE negativa. Está claro que una VCE negativa debe interpretarse en función de la indicación. En la sospecha de hemorragia del intestino delgado (SSBB, por sus siglas en inglés), los pacientes con hemorragia manifiesta persistente/recurrente o sangradores ocultos que sufren descensos considerables de la hemoglobina después de una VCE negativa deben continuar con un estudio del intestino delgado; además, los pacientes con SSBB oculta y solo anemia de leve a moderada deben ser tratados con tratamiento de apoyo. En la enfermedad inflamatoria intestinal, una VCE normal presenta una sensibilidad muy alta y un valor pronóstico negativo. Cuando se sospecha de tumor de intestino delgado, se corre un elevado riesgo de resultados falsos negativos, por lo que se debe considerar otra modalidad de prueba de diagnóstico por la imagen. En los síndromes de poliposis, si la VCE es negativa, se debe volver a realizar la prueba en los pacientes dentro de 2-3 años

Polypoid angiodysplasia mimicking diverticular disease / Angiodisplasia polipoide que imita la enfermedad diverticular

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Long-lasting remission in a case of Cronkhite-Canada syndrome.

Cronkhite-Canada syndrome is a rare disease characterised by diffuse gastrointestinal polyposis, diarrhoea, weight loss, skin hyperpigmentation, onychodystrophy and alopecia. More than 500 cases have been described in the medical literature so far. The disease is probably caused by immune-mediated inflammatory mechanisms, and the diagnosis is based on clinical history, physical examination, endoscopic findings and histology. Differentiating this condition from other clinical entities presenting with similar signs and symptoms may be challenging. We present here the case of a 70-year-old Sardinian man where apparently the syndrome was induced by a mental strain triggered by a work-related accident. Continuous treatment with low-dose of antidepressant, anti-inflammatory and immunosuppressive medications in addition to nutritional support was remarkably effective and resulted in sustained (longer than 8 years) disappearance of clinical manifestations as well as the persistence of physical and psychological well-being. This case argues against the poor prognosis previously ascribed to patients with this syndrome.

[Two cases of the rare Cronkhite-Canada syndrome].

Cronkhite-Canada syndrome (CCS) is a rare non-heritable condition characterized by gastrointestinal polyposis, dysgeusia, malnutrition, total alopecia and onychodystrophia. Two Danish cases of CCS (an 88-year-old female and a 69-year-old male) presented with signs of malnutrition, dyspepsia, vomiting, dysgeusia and hair loss. An upper endoscopy revealed marked oedema and polyposis in the stomach. Both patients developed colonic adenocarcinomas which were radically operated. Treatment consisted of hyperalimentation, prednisolone and azathioprine. Both patients went into remission - the first patient totally.

Mass-forming lesions of the duodenum: A pictorial review.

Recent advances in imaging have resulted in marked changes in the investigation of the duodenum, which still remains primarily evaluated with videoendoscopy. However, improvements in computed tomography (CT) and magnetic resonance (MR) imaging have made detection and characterization of duodenal mass-forming abnormalities easier. The goal of this pictorial review was to illustrate the most common conditions of the duodenum that present as mass-forming lesions with a specific emphasis on CT and MR imaging. MR imaging used in conjunction with duodenal distension appears as a second line imaging modality for the characterization of duodenal mass-forming lesions. CT remains the first line imaging modality for the detection and characterization of a wide range of duodenal mass-forming lesions.