autosomal dominant Ehlers-Danlos syndrome, vascular type

Autosomal dominant Ehlers-Danlos syndrome, vascular type (vEDS), is a heritable connective-tissue condition that primarily weakens blood-vessel walls and hollow organs such as the intestines and lungs. It results from pathogenic variants in the COL3A1 gene, which encodes type III collagen, an important structural protein that lends strength and elasticity to many tissues. Because vessels and organs are fragile, individuals are prone to bruising, pneumothorax, and life-threatening arterial or organ rupture, often beginning in adolescence or young adulthood. Precise prevalence figures are not well established, but vEDS is considered uncommon. Males and females are affected equally, and complications can occur at any age.

Severity and symptoms vary widely between individuals. Early clues frequently involve the skin and joints: many people have translucent, thin skin that bruises easily, visible underlying veins, and hypermobile fingers or other small joints. Vascular features are central and can appear suddenly, including spontaneous dissections of the ascending or descending aorta or other medium-sized arteries, leading to chest or abdominal pain. Recurrent pneumothorax, diffuse lung bleeding, or hemothorax may bring the diagnosis to attention, and computed tomography can reveal lung cysts or blebs. Musculoskeletal findings such as hyperextensible skin, pectus excavatum, and hernias (inguinal or umbilical) are common, while cryptorchidism may be noted in males. Over time, some individuals experience repeated arterial events or pulmonary complications that require emergency care. Less common or variable features include emphysema, chest pain without dissection, and repeated episodes of pneumothorax. Not all individuals experience every feature, and even within the same family, manifestations can differ considerably (variable expressivity).

vEDS is caused by alterations in the COL3A1 gene. COL3A1 provides instructions for making type III collagen, a key component of vessel walls and many connective tissues. When the protein is abnormal or reduced, these structures lose tensile strength and become prone to tearing. The condition follows an autosomal dominant inheritance pattern: one altered copy of COL3A1 is sufficient to increase the risk for symptoms, and each child of an affected individual has a 50 percent chance of inheriting the variant. Most affected people have an affected parent, yet new (de novo) variants can also arise, so a family history may be absent in some cases. Although nearly everyone with a pathogenic variant develops some features, the specific symptoms and their severity can differ widely (variable expressivity). Genetic counseling is recommended for affected individuals and their relatives.

Currently, management focuses on supportive care, risk reduction, and close monitoring rather than curative treatment. Long-term care is best provided by a multidisciplinary team that may include geneticists, vascular surgeons, cardiologists, pulmonologists, orthopedic specialists, and emergency medicine physicians. Regular surveillance is an essential part of long-term care, helping to identify potential complications before they become serious. Many centers recommend periodic vascular imaging and prompt evaluation of any sudden chest, back, or abdominal pain. Protective measures such as avoiding contact sports, maintaining normal blood pressure, and preparing detailed emergency action plans are often advised on an individual basis. Acute events, such as arterial rupture or pneumothorax, require immediate medical or surgical intervention. In addition to treating active problems, ongoing surveillance and lifestyle counseling aim to reduce the likelihood of life-threatening complications. Genetic counseling provides guidance on inheritance, reproductive options, and family screening. Patients should discuss all management decisions with their healthcare team to determine the most appropriate strategies for their specific situation.

The outlook for individuals with vEDS depends on which organs are involved and how quickly complications are recognized and treated. Some people remain relatively stable for many years, while others experience serious vascular or pulmonary events in their teens or twenties. Preventive care, early detection of arterial changes, and rapid response to emergencies have improved outcomes for many families. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with centers experienced in managing connective-tissue disorders and to seek genetic counseling for long-term planning and support.