Genetic Mutation Analysis Can Supplement Clinically Confirmed Hereditary Hemorrhagic Telangiectasia Populations.
Genetic Mutation Analysis Can Supplement Clinically Confirmed Hereditary Hemorrhagic Telangiectasia Populations. Clin Exp Otorhinolaryngol. 2019 Nov;12(4):333-334 Authors: Kim ST PMID: 31575105 [PubMed]
ConclusionsNon-HHT PAVMs occur more commonly in females, are most commonly simple and single, and have lower lobe predominance and a high rate of neurologic complications. Potential predisposing risk factors were identified in about 40% of the cases. Clinicians should be aware of the risk of PAVM development in patients with history of chest trauma, congenital heart disease, lung infection/abscess, and thoracic surgery.
We describe a 48-year-old male who presented with acute onset giddiness, mild dysarthria, right hemiparesis, and ataxia. Clinical examinations indicated left cerebellar signs with right hemiparesis. Additionally, the patient had significant clubbing and mild cyanosis. A strong family history of epistaxis and hemoptysis was noted. His Magnetic resonance imaging of the brain showed acute left cerebellar and left frontal cortical infarct with normal vessels. The routine stroke and cardiac workup were normal. Chest X-ray showed bilateral lower zone opacities. Contrast-enhanced computerized tomogram (CT) of the chest showed bil...
The aim of our study is to study the association between eye lesions in Hereditary Hemorrhagic Telangiectasia (HHT) and other signs of the disease, as well as to characterize its genetics.
Publication date: Available online 24 June 2020Source: Respiratory Medicine Case ReportsAuthor(s): Saniye Girit, Ebru Senol, Özge Karatas, Ayşe İnci Yıldırım
CONCLUSION: This is the first case described of cerebral venous thrombosis treated with rivaroxaban revealing an HHT. PMID: 32565074 [PubMed - as supplied by publisher]
The anti-VEGF antibody has shown efficacy in the rare, underrecognized condition of hereditary hemorrhagic telangiectasia, demonstrating significant reductions in both nose and gastric bleeding.Medscape Medical News
AbstractA 14-year-old girl was diagnosed with hemothorax associated with pulmonary arteriovenous fistula rupture, and emergency surgery was performed. One week before her surgery, her mother at 32 weeks of gestation underwent emergency surgery for hemothorax caused by pulmonary arteriovenous fistula rupture. Both were diagnosed with hereditary hemorrhagic telangiectasia. The indications for treatment of pulmonary arteriovenous fistulas in young patients remain controversial because the risk of complications concerning pulmonary arteriovenous fistula is lower in young patients than in adult patients. We recommend that...
ConclusionsPatients with the combined JP –HHT syndrome remain at risk for life-threatening vascular complications and gastrointestinal malignancies; close follow-up is necessary to minimize morbidity and mortality in this patient population.
Publication date: Available online 13 June 2020Source: International Journal of Surgery Case ReportsAuthor(s): Dae Ro Lim, Da Bin Kim, Hee Kyung Kim, Eung Jin Shin
CONCLUSIONS: This study reinforces the use of MR imaging as a primary screening tool for cerebral AVMs in patients with hereditary hemorrhagic telangiectasia and suggests that 3D-T1 postgadolinium and 2D-T1 postgadolinium performed at 3T are the highest yield sequences.