Last updated Jan. 31, 2022, by Marisa Wexler, MS
 Fact-checked by José Lopes, PhD
Hypermobile Ehlers-Danlos syndrome (hEDS) is the most common type of EDS, affecting around one in 5,000 to one in 20,000 individuals worldwide. It is characterized by symptoms such as soft, smooth, and fragile skin, hypermobile joints, frequent joint dislocations, and scoliosis (abnormal curvature of the spine).
What causes hEDS?
Since hEDS can run in families, the disease is assumed to have a genetic cause; however, in most cases, the specific mutation(s) that contribute to the development of hEDS have not been identified. Some rare cases have been linked with mutations in the genes TNXB or COL3A1, both of which code for proteins that are important for giving tissues in the body their structure.
How is hEDS inherited?
For most genes, everyone inherits two copies, one from each biological parent. hEDS is inherited in an autosomal dominant pattern, which means that a mutation in just one copy is sufficient to cause the disease. A person with hEDS has a 50% chance of passing the disease-causing mutation to any biological children.
In some cases, hEDS may develop in people whose parents do not have the disease. In these instances, the mutation likely occurred either early in fetal development, or during the formation of the sperm and egg cells prior to conception.
What are the symptoms of hEDS?
Hypermobile EDS is characterized by joint hypermobility, where joints are able to move in a much wider range of motion than is typically normal. Patients often experience frequent joint dislocations and chronic musculoskeletal pain — pain in the muscles, bones, and joints.
People with hEDS often have skin that is unusually soft or velvety, and is unusually elastic or stretchy. Atrophic scarring — having indented scars — is common. Additionally, most patients tend to bruise and bleed easily. Nosebleeds are common, as are heavy and prolonged menstrual periods, called menorrhagia.
Early-onset osteoarthritis, or joint inflammation caused by the wearing down of cartilage that normally helps to cushion bones at the joints, is common, and other skeletal abnormalities, such as scoliosis or osteopenia — low bone density — also can occur.
Gastrointestinal problems in hEDS can include bloating, nausea, vomiting, heartburn, or constipation. Patients may experience stomach inflammation known as gastritis or gastroesophageal reflux, when stomach acid flows back up into the esophagus.
People with hEDS can experience heart problems, with symptoms like chest pain, palpitations, or unusual drops in blood pressure upon standing. Abnormalities in heart function like mitral valve prolapse — when a valve on the left side of the heart doesn’t close correctly — can occur in some patients.
During pregnancy, people with hEDS may experience an unusually rapid labor and delivery. Other symptoms may include unusually painful periods (dysmenorrhea) or pain during sexual intercourse (dyspareunia).
How is hEDS diagnosed?
The clinical diagnosis of hEDS requires the presence of three criteria, the primary one being generalized joint hypermobility.
Such joint hypermobility is assessed based on the Beighton scoring system that measures nine joints for signs of unusual mobility. Specifically, assessments are made of both pinkies (the fifth finger on each hand), both thumbs, elbows, and knees, and the spine. To confirm generalized joint hypermobility, the Beighton score must be six or higher for children before puberty, five or higher for adolescents and adults younger than 50, and equal to or greater than 4 for adults older than 50.
The second criterion is the physical features characteristic of hEDS, such as unusually soft or velvety skin, and a positive family history with at least one immediate relative who meets the hEDS diagnostic criteria.
The third and final criterion for diagnosing hEDS is to exclude any other conditions that might cause similar symptoms.
How is hEDS treated?
Management of hEDS varies from patient to patient, though the overall goal is to minimize the impact of the symptoms in a person’s life.
Physiotherapy can help to ease pain and improve physical functioning. Assistive devices, such as braces to improve joint stability, or wheelchairs or scooters to reduce the stress on joints in the lower extremities, can help make managing symptoms in day-to-day life easier. In some cases, surgery may be needed.
Various medications may help with specific symptoms; for instance, over-the-counter pain medicines like acetaminophen can help to ease pain, and vitamin D and calcium supplements may help with bone problems. Proton pump inhibitors or H2 blockers can help ease digestive problems, while medications such as beta blockers may be used for heart issues.
Ehlers-Danlos News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health providers with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.