Osler-Rendu disease, also known as hereditary hemorrhagic telangiectasia (HHT), is a rare genetic disorder that affects blood vessels, leading to abnormal vessel formation and subsequent bleeding. It is characterized by the presence of widened and fragilized blood vessels, called telangiectasias, which can appear as small reddish or purplish spots on the skin or mucous membranes.
The disease is named after Sir William Osler, a Canadian physician, and Dr. Henri Rendu, a French physician, who both made significant contributions to the understanding of this condition. Inheritance of the disease is usually autosomal dominant, meaning that a child has a 50% chance of inheriting the defective gene from an affected parent.
The most common signs and symptoms of Osler-Rendu disease include nosebleeds (epistaxis), which may be recurrent and profuse, as well as telangiectasias in various areas of the body, such as the lips, tongue, fingers, and gastrointestinal tract. Other manifestations can include arteriovenous malformations (AVMs), leading to abnormal connections between arteries and veins, which can cause complications like internal bleeding and organ damage. Other potential symptoms may include anemia, weakness, shortness of breath, and stroke-like symptoms.
Diagnosis of Osler-Rendu disease involves a thorough medical history, physical examination, and the presence of characteristic telangiectasias and arteriovenous malformations. Genetic testing can confirm the diagnosis in some cases. Treatment aims to manage symptoms and prevent complications, typically involving interventions such as cauterization or laser therapy for telangiectasias, and embolization or surgical intervention for AVMs. Regular monitoring and follow-up are important to
