Osler-Vaquez disease, also known as hereditary hemorrhagic telangiectasia (HHT) type 1, is a rare genetic disorder characterized by abnormal blood vessel formation. The disease is named after William Osler, a Canadian physician, and Henri Jules Louis Marie Vaquez, a French physician, who independently described the condition.
Osler-Vaquez disease is inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the disorder. It is caused by mutations in the Endoglin (ENG) or Activin A receptor type II-like 1 (ACVRL1) genes, which are responsible for the development and maintenance of blood vessels.
The main features of Osler-Vaquez disease include telangiectasias, which are small, widened blood vessels near the surface of the skin or mucous membranes, and arteriovenous malformations (AVMs), which are abnormal connections between arteries and veins. These AVMs can occur in various organs such as the lungs, liver, brain, and gastrointestinal tract, leading to potential complications like nosebleeds, internal bleeding, strokes, and digestive issues.
The disease may present with symptoms such as recurrent nosebleeds, anemia, fatigue, shortness of breath, and brain or liver complications. Diagnosis is typically based on clinical evaluation, family history, and imaging studies like angiography or genetic testing.
Although there is currently no cure for Osler-Vaquez disease, treatment focuses on managing symptoms and preventing complications. This includes measures such as medication to control bleeding, embolization or surgical interventions to treat AVMs, as well as regular monitoring and screenings for potential complications. Genetic counseling may be recommended for individuals
