BACKGROUND The frequency of haemorrhage in individuals with hereditary haemorrhagic telangiectasia (HHT), 10% of whom will have cerebral arteriovenous (AV) malformations, could be high enough to justify screening. This would allow presymptomatic treatment to prevent early onset stroke in a condition that affects at least 1 in 8000 individuals. This is an important issue in view of the contrast ...

Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder that can lead to frequent and severe sequelae. Although the condition has no cure, many of its physical symptoms can be managed to improve the quality of life and lower the risk of life-threatening complications. This article discusses HHT presentation, genetic screening, diagnosis, and management. The management of HHT can in...

Cerebral arteriovenous malformations (AVMs) are associated with hereditary hemorrhagic telangiectasia (HHT). I report a case of a patient with HHT with four cerebral AVMs in whom one AVM spontaneously regressed during a 5-year period. The spontaneous regression of this AVM in this patient with HHT supports the theory that AVMs associated with this syndrome have a different natural history than ...

Telangiectasia-associated hepatic fibrosis (TAHF) in a 68-year-old woman with hereditary haemorrhagic telangiectasia (HHT) is described. The patient died of oat-cell carcinoma of the lung. In addition to the structural alterations which have been described previously in HHT, the liver exhibited focal midlobular hepatocytic necrosis and tumour metastases. The possibility that treatment of HHT wa...

Hereditary haemorrhagic telangiectasia (HHT), or Osler– Weber–Rendu syndrome, is inherited in an autosomaldominant fashion. There are two different forms of HHT: HHT type 1, caused by mutations in the endoglin gene, located in chromosome 9 (which encodes endoglin), and HHT type 2, caused by mutations in the gene encoding activin A receptor type II-like 1 (ALK1) on chromosome 12. Mucocutaneous t...

Background Juvenile Polyposis Syndrome (JPS) is defined by the presence of ≥ 5 colorectal juvenile polyps or any number of juvenile polyps in an individual with a family history of JPS. Genetic alterations including either point mutations or large rearrangements in BMPR1A or SMAD4 are found in 50% of affected individuals. Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant dise...

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant disorder characterized by the age-dependent development of focal arteriovenous malformations and telangiectases. HHT type 2 is caused by loss of function mutations in activin receptor-like kinase 1 (ACVRL1 or ALK1). However, the factors that initiate lesion formation and those that influence disease progression remain unknown....

Leukotriene B4 (LTB4) receptor type 2 (BLT2) is a G protein-coupled receptor (GPCR) for 12(S)-hydroxyheptadeca-5Z,8E,10E-trienoic acid (12-HHT) and LTB4. Despite the well-defined proinflammatory roles of BLT1, the in vivo functions of BLT2 remain elusive. As mouse BLT2 is highly expressed in epidermal keratinocytes, we investigated the role of the 12-HHT/BLT2 axis in skin wound healing processe...

The newly developed method known as Hilbert-Huang Transform (HHT) is ideal for nonlinear and nonstationary data analysis as it is totally adaptive in nature. This paper will discuss the fundamentals of HHT method which consists of the empirical mode decomposition and Hilbert spectral transform. As a part of analysis, the HHT method is applied on two different data sets in which one is the annua...

F ew systemic diseases present with such a diversity of cardiopulmonary manifestations as hereditary haemorrhagic telangiectasia (HHT), also known as Osler’s disease or Rendu–Osler–Weber syndrome. HHT is one of the most common inherited diseases, with a prevalence of one in 5,000–10,000, and has been linked to mutations in at least five different genes, including endoglin and activated-receptor...