Hereditary hemorrhagic telangiectasia (HHT), additionally accepted as Osler-Weber-Rendu disease, is an autosomal ascendant ataxia of aberrant claret barge formation. It occurs in about 1 in 5000-8000 individuals. Alternate epistaxis is the best accepted presenting problem, although some patients present with a adverse accident (eg, abrupt death, stroke, pulmonary hemorrhage) involving above organs. HHT has capricious penetrance and expressivity, generally arch to delays in, or doubts about, the diagnosis. The ache is rarely accustomed by dentists and physicians, and best patients do not apperceive they accept it. Dentists can comedy a basic role in allowance to analyze this potentially baleful disease.
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Most patients accept a alteration in 1 of 2 genes appropriate for accustomed claret barge formation. Patients with HHT accept aberrant claret barge development that manifests as telangiectasias and arteriovenous malformations (AVMs). Both telangiectasias and AVMs represent absolute access amid arteries and veins after bridging capillaries. Telangiectasias action on mucocutaneous surfaces (eg, nose, gastrointestinal tract, skin). AVMs advance in beyond agency systems (eg, lungs, liver, brain).
Telangiectasias tend to be red or amethyst in color, elevated, and flinch with pressure, as empiric in this patient. The affiliation amid the high-pressure avenue and airy attitude tends to be brittle and is decumbent to ad-lib and alternate bleeding.
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Epistaxis. Epistaxis is the best accepted analytic affection of HHT, occurring in 90% of patients. Epistaxis occurs accessory to telangiectasias that advance on the nasal mucosa. Air casual through the adenoids dries and ruptures these brittle claret vessels. Epistaxis leads to anemia in abounding patients. The ache can authenticate a advanced ambit of severity, alike aural the aforementioned family.
In some patients, HHT is little added than a amusing nuisance. In others, it is a antecedent of cogent anguish and is potentially life-threatening. In 10% of afflicted patients, no cogent epistaxis occurs. These patients, abounding of whom accept apparent ancestors ache from nosebleeds all their lives, may afield accept that they do not accept the disease. This could acquiesce added potentially baleful manifestations of the ache to go undiagnosed. Gastrointestinal bleeding occurs in about one third of afflicted individuals and is addition accepted account of anemia. Mucosal telangiectasias can action anywhere forth the gastrointestinal amplitude and are frequently arresting on the aperture and tongue. The lesions are arresting in best patients and access in cardinal with age.
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Systemic AVMs. Although articulate lesions and nosebleeds are the best accepted allegation in patients with HHT, AVM accumulation abroad in the anatomy can advance to cogent anguish and alike death. Pulmonary AVMs (PAVMs) are begin in up to one third of patients with HHT. These PAVMs accommodate absolute advice amid the pulmonary and systemic circulations, bearing a right-to-left blow that can advance to hypoxemia, academician abscesses, or cerebrovascular accidents. Because of these associated risks, patients with accepted or doubtable HHT should abide screenings for the attendance of PAVMs. PAVMs can be advised with embolization. Patients with accepted PAVMs, or patients with HHT in whom PVMs accept not been excluded, should abide antibacterial prophylaxis above-mentioned to accepting dental procedures to abate the accident for academician infection.
Cerebral AVMs affect added than 10% of patients with HHT. They can account headache, seizures, and hemorrhage. Drain afterward breach of bookish AVMs can advance to abrupt afterlife or abiding disability. Young accouchement may present with abrupt afterlife due to astute bookish hemorrhage. MRI is currently the best way to ascertain these vascular malformations and should be performed on all patients with accepted or doubtable HHT.
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Although abiogenetic testing is accessible for HHT, not every alteration is currently known. However, if a specific alteration is begin in one ancestors member, added ancestors associates can be genetically screened. The absence of a accepted alteration in addition ancestors affiliate eliminates the charge for screening for AVMs in that person. This can be abnormally accessible for accouchement of afflicted parents, in whom some of these tests may be added difficult and may crave balance or accepted anesthesia.
Patients with accepted or doubtable HHT should be evaluated by specialists abreast of the disease. Several centers of arete abide area a multidisciplinary access is used. If a barometer to these centers is not possible, patients should be apparent by a cardiologist for PAVM screening and abide MRI of the brain. Those with epistaxis or gastrointestinal bleeding should be apparent by an otolaryngologist or gastroenterologist with acquaintance in alleviative these manifestations of HHT.
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