With what hereditary disorder are pulmonary AVMs associated?
Although pulmonary AVMs are often isolated, they can be associated with hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome. HHT is an autosomal dominant genetic disorder that causes vascular malformations that can lead to multiple pulmonary AVMs. It is characterized by telangiectasias of the skin and mucosal linings and AVMs in internal organs including the lungs, liver, and brain. It is wise to screen family members of patients who present with pulmonary AVMs so that they can be properly diagnosed and receive treatment.
