Hereditary Hemorrhagic Telangiectasia: Diagnosis and Management—Part II

Dear Colleagues,

Due to the impact of the Special Issue on Diagnosis and Management on Hereditary Hemorrhagic Telangiectasia, JCM decided to start a second Special Issue.

Hereditary Hemorrhagic Telangiectasia (HHT), an autosomal dominant heritable disease, leads to vascular multi-organ system and ranges from mucocutaneous telangiectases to large arteriovenous malformations. HHT has a prevalence of 1 in 5,000, becoming one of the most prevalent RDs and its diagnosis is based on the Curaçao criteria. HHT disease presents subtypes, depending on the mutations in ENG or ACVRL1/ALK1 genes, both belonging to the TGF-β/BMP9 signaling pathway, or other locations to be determined. If no diagnosis or a wrong diagnosis happens, the disease leads to a decreased life expectancy since HHT is associated with a decreased quality of life and severe complications.

This Special Issue aims (again) to highlight not only the current knowledge regarding the diagnosis and management of HHT but also the newest sequencing strategies and/or mutation hot spots. It also encourages to the presentation of international collaborative works in the diagnosis and management of the disease or related circumstances such as the pandemic year we have suffered.

All this knowledge will dramatically contribute to a better quality of life by shorting the diagnosis and further medical assistance.

Dr. Angel M. Cuesta
Guest Editor

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