Hereditary Haemorrhagic Telangiectasia (HHT) is also known as Osler-Rendu-Weber syndrome. It is a rare inherited (autosomal dominant) disorder that affects blood vessels throughout the body and is characterised by a tendency for bleeding (haemorrhage), in particular recurrent epistaxis (nose bleeds) and skin telangiectasia.

There are several genetic mutations that have been associated with HHT including: ENG, ACVRL1 / ALK1 and SMAD4 among others. An inherited alteration in just one of these genes causes an abnormality in the formation of blood vessels, which may easily rupture and bleed. The abnormal dilated blood vessels are known as telangiectases, or arteriovenous malformations (AVM), if larger blood vessels are involved.

Most people with HHT can be treated symptomatically. AVMs may need active management. HHT should be treated if it is causing significant problems, such as severe and / or frequent nosebleeds. Ideally, a multidisciplinary clinical team should assist in the care of those with HHT.

Hereditary Haemorrhagic Telangiectasia – Family Day

In November 2018 , a family day was held as a collaborative, multidisciplinary group to discuss the current assessment, treatment, management and support options available to HHT patients and their families.

The following are presentations from key note speakers from November 2018.

Introduction

Professor Ingrid Winship, MB ChB, MD, FRACP, FACD, FAICD
Director of Genomic Medicine, The Royal Melbourne Hospital and Professor of Adult Clinical Genetics, University of Melbourne

Sara Taji (nee Violante)
Founder of Matty’s Soldiers

A haematologist’s perspective of HHT

Associate Professor Chris Barnes, MBBS FRACP FRCPA
Consultant Haematologist, The Royal Children’s Hospital, Melbourne

Medical and surgical treatment options for HHT

Dr Joanne Rimmer, MBBS MA(Hons) FRCS(ORL-HNS) FRACS
Consultant Ear, Nose & Throat Surgeon/ Rhinologist, Monash Health & The ENT Clinic


Results of the pilot study of intranasal avastatin

Mr Lachlan Healy, BSc(Hons)
HHT Research Fellow, Genomic Medicine, The Royal Melbourne Hospital and the Department of Medicine, University of Melbourne

Living with HHT: Stigma, coping with unpredictable symptoms and self-advocacy

Dr Michael Bogwitz, PhD FHGSA
Genetic Counsellor, Genomic Medicine & Parkville Familial Cancer Centre & Department of Genetic Medicine, The Royal Melbourne Hospital

Living with HHT - Reflection

Nick Masters, HHT Patient

HHT Gala “Gatsby Event” – Matty’s Soldiers