Hereditary hemorrhagic telangiectasia diagnosis: A case report

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu, is an autosomal dominant blood vessel disease. Patients with HHT have abnormal development of some blood vessels resulting in a direct connection between an artery and a vein or a fistula (Shovlin et al., 2000). These abnormal blood vessels, or arteriovenous malformations (AVMs), have potential to rupture and bleed (Zhang et al., 2022). Flow through an AVM causes a shunt which can lead to hemoptysis, anemia, hypoxemia, stroke, brain abscess, heart failure and early death. AVMs may be present in solid organs that include the spine, brain, liver, and lungs. Smaller AVMs, referred to as telangiectases, are characteristically found on fingertips, nailbeds, face, nose, and the gastrointestinal tract. In the United States, the incidence of HHT is approximately 1: 5000 (Kjeldsen et al., 1999). Brain AVMs are present in 10% to 15% of patients (Brinjikji et al., 2017) while the incidence of lung AVMs is 50% (Dupuis-Girod et al., 2017). Any child born to a parent with HHT has a 50% chance of having HHT and may be asymptomatic for several years, putting them at risk for developing complications associated with delayed diagnosis (Pierucci et al., 2012). There is variable expressivity of HHT signs and symptoms within the same family with the identical gene mutation. By the fourth decade of life, approximately 90% of patients will have frequent epistaxis, the most common symptom of HHT. Early diagnosis of HHT allows for planned, preventative care and treatment throughout the lifespan. Definitive diagnosis is made using either the Curaçao criteria or genetic testing (Shovlin et al., 2000). The Curaçao criteria were developed in 2000 prior to commercial genetic testing availability for HHT (Shovlin et al., 2000). A patient has definite HHT if they have three of four of these criteria, possible HHT if they have two, and HHT is unlikely if they only have one criterion (Table 1). The Second International Guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia recommend genetic testing for the most affected individual in a family to increase positive yield (Faughnan et al., 2020). Genetic test panels for HHT include endoglin (ENG), activin receptor like kinase 1 (ACVRL1), SMAD related protein 4 (SMAD4), RASA1, growth differentiation factor 2 (GDF2) and capillary-malformation-AVM syndrome (EPHB4) (Hammill et al., 2021). According to Faughnan et al. (2020), if a gene mutation is identified in a family member of the proband, all family members should be tested for that targeted gene. HHT is most prevalent in Dutch populations (Westermann et al., 2003). Symptoms of HHT generally include shortness of breath, migraine headache and nosebleeds, but here we report an asymptomatic patient who was diagnosed after presenting to an emergency department with a fall injury.

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