Related Experiment Video
Updated: Jun 26, 2026
06:51
A Patient-Derived Xenograft Model for Venous Malformation
Published on: June 15, 2020
Hereditary haemorrhagic telangiectasia.
1Indiana Hemophilia and Thrombosis Center, Indianapolis, Indiana 46260, USA.
Summary
Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is an inherited vascular disorder causing abnormal blood vessel formation. Further research is needed for evidence-based management guidelines.
Area of Science:
- Genetics and Vascular Biology
Background:
- Hereditary haemorrhagic telangiectasia (HHT), or Osler-Weber-Rendu syndrome, is an autosomal-dominant disorder.
- It involves multisystem vascular dysplasia, leading to telangiectases and arteriovenous malformations (AVMs).
- HHT is relatively common but often under-recognized.
Purpose of the Study:
- To summarize the clinical manifestations of HHT.
- To review current management strategies for HHT.
- To highlight the need for evidence-based guidelines.
Main Methods:
- Literature review of clinical manifestations and management of HHT.
- Synthesis of existing knowledge on the disorder.
- Identification of research gaps.
Main Results:
- HHT presents with characteristic telangiectases and AVMs in various organs.
- Clinical features vary, impacting skin, mucosa, and internal organs.
- Current management approaches are discussed.
Conclusions:
- There is an urgent need for prospective, multicentre studies.
- Development of evidence-based management guidelines is crucial.
- Improved understanding and standardized care are required for HHT patients.
Related Concept Videos
01:17Hemorrhagic Stroke l: Introduction
A hemorrhagic stroke is an acute neurological event that occurs when a weakened cerebral blood vessel ruptures, allowing blood to accumulate within or around the brain. The sudden release of blood forms a focal hematoma that increases intracranial pressure, displaces neural tissue, and can obstruct cerebrospinal fluid pathways. These effects may be compounded by intraventricular extension of the hemorrhage, cerebral edema, or compression of adjacent structures, all of which contribute to...
01:21Huntington Disease l: Introduction
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
01:11Genetic Lingo
Overview
01:24Esophageal Varices-I: Introduction
Esophageal varices are dilated, tortuous veins which are found mainly in the submucosa of the lower esophagus but which may also appear higher up or extend into the stomach. They develop due to increased pressure in the portal venous system, often as a result of liver cirrhosis. This condition scars and damages the liver, impeding normal blood flow through the portal vein. To compensate, blood seeks alternative pathways, forming fragile new vessels (varices) in the esophagus and stomach. These...
01:24Regulation of Angiogenesis and Blood Supply
Rapidly dividing tumors, embryos, and wounded tissues require more oxygen than usual, lowering the oxygen concentration in the blood. At low oxygen or hypoxic conditions, an oxygen-sensitive transcription factor called the hypoxia-inducible factor 1 or HIF1 is activated. HIF1 is a dimeric protein of alpha (ɑ) and beta (β) subunits. Under optimal oxygen conditions, HIF1β is present in the nucleus while HIF1ɑ remains in the cytosol. HIF1ɑ is hydroxylated by prolyl hydroxylase and factor...
01:24Disorders of Hemostasis
Hemostasis, the process that stops bleeding after a blood vessel injury, is crucial for maintaining the integrity of the circulatory system. However, disorders of hemostasis can disrupt this delicate balance, leading to either excessive clotting or bleeding. These disorders can be broadly classified into thromboembolic disorders and bleeding disorders.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.