HHT and gastric telangiectasia.

نویسندگان

  • P-L Lay
  • T-Y Huang
  • C-H Hsu
چکیده

A 58-year-old Taiwanese married male presented to our emergency department with progressive dizziness and generalized weakness for 1 week. His blood pressure was 138/91 mmHg and heart rate was 74 bpm. He stated that nosebleeds occurred off and on for more than 20 years, and he had been diagnosed pulmonary arteriovenous malformation (AVM) and received coils embolization in April, 2009 (Figure 1a). He also received coronary artery bypass graft surgery due to coronary artery disease before. Besides, his mother, elder brother and son suffered from intermittent nosebleeds for a long time, and his son had the history of pulmonary AVM and received coils embolization before. There was no evidence of stroke or infectious disease for the patient. Routine laboratory tests revealed microcytic anemia with a hemoglobin level of 6.9 g/dL. There was positive finding in stool occult blood test. Esophagogastroduodenoscopy (EGD) and colonoscopy demonstrated telangiectases in stomach (Figure 1b) and colon, and endoscopic argon plasma coagulation therapy was performed for these lesions. Blood transfusion with packed red blood cells was also prescribed for his anemia. Hereditary Hemorrhagic Telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is a rare autosomal dominant vascular disease. The vascular malformations are arteriovenous shunts termed telangiectases (if small) or AVMs (if large). Clinical diagnosis of HHT is made when a person presents three of the following four criteria: family history, recurrent nosebleeds, mucocutaneous telangiectasis, and AVM in the brain, lung, liver and gastrointestinal (GI) tract. Epistaxis and skin telangiectasis are the most common presenting symptoms that appear in over 90% of HHT patients aged over 60 years. Most elderly HHT patients suffer from anemia due to epistaxis and GI bleeding. When a patient presented with anemia and gastric telangiectases in endoscopic examinations, careful history taking, including family history is crucial. Further studies to confirm the existence of AVM of brain, lung and liver are necessary if suspicion of HHT.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Successful treatment of thalidomide for recurrent bleeding due to gastric angiodysplasia in hereditary hemorrhagic telangiectasia.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder, which is uncommon anomaly to recurrent gastrointestinal bleeding. Although there are several forms of therapy ranging from local therapy to operations or drug therapy, there is a lack of more effective treatment for the disease. In this report, we presented a Chinese patient with recurrent melena due to gastric angio...

متن کامل

Hereditary hemorrhagic telangiectasia mimicking metastases in a patient with gastric carcinoma.

Hereditary hemorrhagic telangiectasia (HHT) is associated with arteriovenous malformation in multiple organs. The association of HHT with primary malignancy has rarely been reported. We describe the case of a 68-year-old man with gastric carcinoma who presented with abdominal fullness and cramping pain. Radiographic examination showed multiple pulmonary nodules and an osteolytic cervical spine ...

متن کامل

Long Non-Coding RNA Expression Profiles in Hereditary Haemorrhagic Telangiectasia

Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominantly inherited vascular disease characterized by the presence of mucocutaneous telangiectasia and arteriovenous malformations in visceral organs. HHT is predominantly caused by mutations in ENG and ACVRL1, which both belong to the TGF-β signalling pathway. The exact mechanism of how haploinsufficiency of ENG and ACVRL1 leads to ...

متن کامل

JP-HHT phenotype in Danish patients with SMAD4 mutations.

Patients with germline mutations in SMAD4 can present symptoms of both juvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (HHT): the JP-HHT syndrome. The complete phenotypic picture of this syndrome is only just emerging. We describe the clinical characteristics of 14 patients with SMAD4-mutations. The study was a retrospective, register-based study. SMAD4 mutations car...

متن کامل

Life expectancy in patients with hereditary haemorrhagic telangiectasia.

BACKGROUND There are few data on life expectancy in patients with hereditary haemorrhagic telangiectasia (HHT), a disorder with life-threatening complications. METHODS Seventy HHT patients provided data on age and age at death of their HHT-affected parent, which was compared with that of the parent's non-affected partner. RESULTS At the time of the study, 40 HHT parents (57.1%) vs. 36 (51.4...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • QJM : monthly journal of the Association of Physicians

دوره 109 1  شماره 

صفحات  -

تاریخ انتشار 2016