HHTS is an acronym that stands for Hypermobile Hereditary Telangiectasia Syndrome. It is a genetic disorder characterized by the presence of multiple small, dilated blood vessels called telangiectasias, primarily in the skin and mucous membranes.
The primary symptom of HHTS is the appearance of these telangiectasias, which can range in size and appear as red or purple marks on the skin, particularly on the face, lips, and hands. Additionally, individuals with HHTS may experience frequent nosebleeds, especially in childhood, as the blood vessels in the nose are often affected.
Beyond the visible symptoms, HHTS can also affect various organs, leading to complications. For instance, arteriovenous malformations (AVMs) may develop in the lungs, liver, or brain, causing symptoms such as shortness of breath, chest pain, easy fatigue, or bleeding in the digestive system.
HHTS is an autosomal dominant disorder, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. As such, there is a 50% chance that an affected individual will pass the condition on to their children.
Management of HHTS focuses on symptom relief and preventing complications. Treatments may involve medications to control bleeding, laser therapy to reduce the appearance of telangiectasias, or procedures to close off problematic blood vessels. Regular monitoring and screening for possible AVMs are essential to detect and address potential organ-related complications early on.
