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- Benefits of Treating Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Retrospective Analysis of 14 Patients. [Journal Article]
- WNWorld Neurosurg X 2019; 3:100029
- CONCLUSIONS: The risk of treatment of brain AVMs in patients with HHT is quite low for appropriately selected patients with treatment individualized to radiosurgery, microsurgery, or a combination of embolization and microsurgery.
- Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort. [Journal Article]
- CEClin Exp Otorhinolaryngol 2019 Jun 22
- CONCLUSIONS: Novel and published variants in ENG (37.5%) and ACVRL1 (62.5%) were exclusively identified as the cause of HHT in an Austrian patient cohort. Identification of novel causative genetics variants should facilitate the development of tailored therapeutical applications in the future treatment of autosomal dominant HHT.
- Radiological findings in the liver of a patient with Rendu-Osler-Weber syndrome. [Journal Article]
- RBRadiol Bras 2019 May-Jun; 52(3):200-201
- Pulmonary arteriovenous malformations: what the interventional radiologist needs to know. [Review]
- RMRadiol Med 2019 Jun 17
- Pulmonary arteriovenous malformations (PAVMs) or fistulas are rare direct pathological connections between pulmonary arterial and venous circulation. Most of PAVMs are congenital and closely associat…
Pulmonary arteriovenous malformations (PAVMs) or fistulas are rare direct pathological connections between pulmonary arterial and venous circulation. Most of PAVMs are congenital and closely associated with hereditary hemorrhagic telangiectasia, but acquired PAVMs have also been described in the literature. Diagnosis of PAVMs is a priority for clinicians, in order to prevent potentially fatal events such as cerebrovascular stroke, systemic septic embolization, hemoptysis and hemothorax. In this scenario, the radiologist plays a key role in both diagnostic and therapeutic workups of PAVMs: Chest X-ray, computed tomography and magnetic resonance are effective tools for PAVMs identification and confirmation of the suspected diagnosis. Furthermore, imaging modalities provide most of the elements for PAVMs classification according to their angioarchitecture (simple and complex) and help the clinicians in establishing which lesion requires prompt treatment and which one will benefit of imaging follow-up alone. Endovascular management of PAVMs has grown up as the first-line treatment in respect of surgery during last decades, showing lower risk of intra- and post-procedural complications and offering a wide number of treatment options and materials, ensuring effective management in virtually any clinical situation; interventional treatment aims to exclude PAVMs from pulmonary circulation, and specific technique and embolic agents should be selected according to pre-treatment imaging, in order to obtain the best procedural outcome. This paper proposes a review of the clinical and radiological features that a radiologist needs to know for PAVMs diagnosis and proper management, also showing an overview of the most common endovascular treatment strategies and embolization materials.
- Identification of Retinal Vascular Lesions Using Ultra-Widefield Angiography in Hereditary Hemorrhagic Telangiectasia Patients. [Journal Article]
- OROphthalmol Retina 2019; 3(6):510-515
- CONCLUSIONS: In the first FA and OCTA analysis of the retina of unrelated HHT patients, we found a high rate of temporal and nasal telangiectasias. These telangiectasias were more apparent in older patients, suggesting that they may appear in later stages of HHT development. No abnormalities of the macular vasculature and architecture were identified, explaining the generally well-preserved visual acuity. Temporal and nasal telangiectasias may have clinical significance in a patient's risk for retinal hemorrhage and likely warrant periodic surveillance by annual FA imaging.
- Rendu-Osler-Weber disease: a gastroenterologist's perspective. [Review]
- OJOrphanet J Rare Dis 2019 Jun 07; 14(1):130
- Hereditary hemorrhagic teleangectasia (HHT, or Rendu-Osler-Weber disease) is a rare inherited syndrome, characterized by arterio-venous malformations (AVMs or Telangiectasia). The most important and …
Hereditary hemorrhagic teleangectasia (HHT, or Rendu-Osler-Weber disease) is a rare inherited syndrome, characterized by arterio-venous malformations (AVMs or Telangiectasia). The most important and common manifestation is nose bleeds (epistaxis). The telangiectasias (small AVMs) are most evident on the lips, tongue, buccal mucosa, face, chest, and fingers, however; large arterio-venous malformations can also occur in the lungs, liver, pancreas, or brain. Telangiectasias in the upper gastrointestinal tract are known to occur, however data regarding possible small-bowel involvement is limited due to technical difficulties in visualizing the entire gastrointestinal tract. The occurrence of AVMs in the stomach and small bowel can result in chronic bleeding and anaemia. Less frequently, this may occur due to bleeding from oesophageal varices, as patients with HHT can develop hepatic parenchymal AVMs or vascular shunts which cause hepatic cirrhosis and portal hypertension. Gastroenterologists have a crucial role in the management of these patients, however difficulties remain in the detection and management of complications of HHT in the gastrointestinal tract.
- Pericytes in Hereditary Hemorrhagic Telangiectasia. [Journal Article]
- AEAdv Exp Med Biol 2019; 1147:215-246
- Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder characterized by multi-systemic vascular dysplasia affecting 1 in 5000 people worldwide. Individuals with HHT suffer from many compli…
Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder characterized by multi-systemic vascular dysplasia affecting 1 in 5000 people worldwide. Individuals with HHT suffer from many complications including nose and gastrointestinal bleeding, anemia, iron deficiency, stroke, abscess, and high-output heart failure. Identification of the causative gene mutations and the generation of animal models have revealed that decreased transforming growth factor-β (TGF-β)/bone morphogenetic protein (BMP) signaling and increased vascular endothelial growth factor (VEGF) signaling activity in endothelial cells are responsible for the development of the vascular malformations in HHT. Perturbations in these key pathways are thought to lead to endothelial cell activation resulting in mural cell disengagement from the endothelium. This initial instability state causes the blood vessels to response inadequately when they are exposed to angiogenic triggers resulting in excessive blood vessel growth and the formation of vascular abnormalities that are prone to bleeding. Drugs promoting blood vessel stability have been reported as effective in preclinical models and in clinical trials indicating possible interventional targets based on a normalization approach for treating HHT. Here, we will review how disturbed TGF-β and VEGF signaling relates to blood vessel destabilization and HHT development and will discuss therapeutic opportunities based on the concept of vessel normalization to treat HHT.
- Retrospective Comparison of Pulmonary Arteriovenous Malformation Embolization with the Polytetrafluoroethylene-Covered Nitinol Microvascular Plug, AMPLATZER Plug, and Coils in Patients with Hereditary Hemorrhagic Telangiectasia. [Journal Article]
- JVJ Vasc Interv Radiol 2019; 30(7):1089-1097
- CONCLUSIONS: PAVM embolization with MVP had a high technical success rate and a low persistence rate comparable to AVP and lower than coil embolization alone.
- Mystery Case: Missed diagnosis of hereditary hemorrhagic telangiectasia presenting with recurrent ischemia. [Journal Article]
- NeurNeurology 2019 May 28; 92(22):1068-1069
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- Loss-of-Function in SMAD4 Might Not Be Critical for Human Natural Killer Cell Responsiveness to TGF-β. [Case Reports]
- FIFront Immunol 2019; 10:904
- We characterized the NK cell phenotype and function in three family members with Hereditary Hemorrhagic Telangiectasia (HHT) due to heterozygous SMAD4 mutations. Loss-of-function mutation in this gen…
We characterized the NK cell phenotype and function in three family members with Hereditary Hemorrhagic Telangiectasia (HHT) due to heterozygous SMAD4 mutations. Loss-of-function mutation in this gene did not induce developmental effects to alter CD56bright or CD56dim NK cell subset proportions in peripheral blood; and did not result in major differences in either their IL-15-induced proliferation, or their cytokine secretion response to TGF-β1. These data suggest that SMAD4 plays a redundant role in downstream TGF-β signaling in NK cells.