Introduction

HHT is a genetic vascular disorder characterised by disseminated vascular lesions in many organs including the lungs, liver and brain. For the ENT surgeon, the most relevant of these vascular malformations are telangiectasia of the nasal mucosa which are very friable and leave patients prone to recurrent and severe epistaxis.
HHT is an autosomal dominant inherited condition with an incidence of approximately 1 in 5000-8000 live births. Diagnosis is via the Curaçao criteria, an internationally recognised standard, with patients scoring from 0-4 based upon several categories (figure 1) . A score of 3-4 indicates ‘definitive’ HHT, whilst 2 is ‘suggestive’ and 0-1 is ‘unlikely’ . These scores are both diagnostic and particularly useful to rule in a possible HHT diagnosis in younger adults and children. Genetic testing can be performed to identify the causative genetic defect in an index case, thereby allowing a diagnosis amongst family members who do not fit diagnostic criteria. Genetic screening for HHT focuses on two primary gene mutations: ENG (HHT type 1) and ACVRL1 (HHT type 2). Together these two genes are responsible for approximately 96% of HHT cases. Whilst these two forms of HHT are the most common, genetic testing is complex. Some families have ‘private’ HHT mutations with compelling evidence of HHT without any identifiable genetic mutation, further emphasising the importance of thorough history and examination.
Epistaxis affects up to 90% of patients with HHT and can significantly impact these patients’ quality of life (QoL) both physically and psychologically. Most sufferers report epistaxis as the symptom that interferes most with their day-to-day activities, however, related symptoms such as fatigue from iron deficiency anaemia and nasal crusting or blockage cause additional distress. Frequency and duration of epistaxis are the most significant contributors to impaired QoL in patients with HHT.
Management of HHT is complex and multimodal; encompassing prophylactic, medical, and surgical methods. Importantly, treatment should be individually tailored and involve substantial collaboration between doctor and patient, considering physical and psychosocial aspects to improve patients’ perception of themselves and their illness .
Individualising care of patients with HHT can be challenging, particularly as the main end-points of assessing successful treatment and patient satisfaction are the frequency, duration, and quantity of nose bleeds. The reporting of these symptoms is susceptible to recollection biases ; the under or over-reporting of symptomatology by patients. This makes tailored treatment more challenging. We report the case of a 10-year-old girl who developed a nosebleed diary to accurately and effectively track her symptoms over time and against the initiation of different treatments.
Clark et. al recommends that the following should be recorded in a nosebleed diary: date and time, duration, intensity, severity, and the need for medical attention. Whist the authors discuss the development of an e-diary for patients with HHT, we have found no reports of a symptom diary being used to monitor care and adjust management in these patients.