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.