Small bowel adenocarcinoma arising in a patient with hereditary hemorrhagic telangiectasia: A case report

Abstract

Abstract. Patients with hereditary hemorrhagic telangiectasia (HHT) are reportedly at a lower overall risk of malignancies, and small bowel adenocarcinoma (SBA) arising in a HHT patient is extremely rare. In this study, the case of a 37-year-old female with HHT who developed a poorly differentiated jejunal adenocarcinoma five years after ileocecal resection for multiple colonic adenomas is presented. The patient underwent curative resection of the cancer invading the ileum and the mesentery of the transverse colon, but had to overcome critical complications perioperatively, stemming from HHT-associated peripheral capillary dilatation and arteriovenous malformation, including nosebleeds and possible infusion-induced air embolism through pulmonary shunts. The patient subsequently received adjuvant chemotherapy including capecitabine and oxaliplatin for 6 months, and currently remains alive without any evidence of recurrence 12 months after the second surgery. This patient with SBA was an instructive case demonstrating the necessity of careful attention during major surgery in HHT. IntroductionHereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, is an autosomal dominant disorder characterized by cutaneous and/or mucosal telangiectasias and arteriovenous malformations (AVMs), with a prevalence rate of 1-2 patients per 10,000 individuals worldwide (1). HHT is clinically diagnosed using the Curaçao criteria, which was established in 1999 (2). Approximately 80% of HHT patients exhibit a mutation in endoglin or activin A receptor-like kinase 1 genes. Repeated nosebleeds due to the mucosal telangiectasias are the most common somatic symptom and present a major HHT-related health concern that affects patient quality of life (3). At present, an optimal treatment strategy for HHT has not yet been established. However, in patients that exhibit severe bleeding, infection and hypoxia, surgery is usually required (3,4). The prognosis of HHT patients depends on the presence of the infection associated with AVMs, including organ abscesses and sepsis (1). Notably, the mean lifespan of HHT patients has been found to be shortened when compared with controls (63.2 vs. 70.0 years) (4). To date, only a few cases of tumors arising in the small bowel have been reported (5,6). In this study, the first case of a patient with HHT to develop cancer of the jejunum following surgical removal of multiple colonic adenomas is presented. Case reportA 32-year-old female underwent a laparoscopy-assisted ileocecal resection for multiple polyps in the cecum and appendix veriforme at the University of Tokyo Hospital, (Tokyo, Japan), as reported in a previous study (7). The patient was subsequently diagnosed with HHT. Five years later, she visited a local practitioner complaining of appetite loss which had lasted for two months, recent abdominal pain, and intermittent vomiting. Shortly thereafter, the patient was referred back to the University of Tokyo Hospital to receive treatment for obstructive ileus, which was manag...

Mortalidad atribuida a telangiectasia hemorrágica hereditaria y variabilidad geográfica en España (1981-2016)

“…La gravedad y la frecuencia de las hemorragias nasales por lo general aumenta con la edad 22 , y con ellas se hacen evidentes sus complicaciones mayores, como las malformaciones arteriovenosas pulmonares y las malformaciones arteriovenosas cerebrales, muchas de ellas mortales 9 . Por otro lado, existen estudios que refieren una mayor supervivencia de los pacientes con THH a determinados cánceres 23,24 , así como otros que observan una disminución de la incidencia de ciertos cánceres en las personas con THH 25 .…”