Latest news with #Ehlers‑DanlosSyndrome
The Sun
06-05-2025
- Health
- The Sun
The simple 30-second finger test that can reveal your risk of devastating incurable disease
JOINT flexibility is important for healthy movement and function. But being able to move your joints in an extraordinary way could be a sign of Ehlers-Danlos syndromes (EDS). 3 EDS are a group of inherited disorders that affect connective tissues, primarily the skin, joints, and blood vessels. These disorders result from genetic mutations that impact the production or structure of collagen, a key protein that provides support and structure to various tissues. EDS is characterised by joint hypermobility - an increased range of motion in the joints, making them more flexible than average. Skin can stretch further than normal, joints bend too far and sometimes dislocate, and internal tissues bruise or tear more easily. According to Jeannie Di Bon, a UK-based hypermobility and EDS specialist, just because you're hypermobile doesn't automatically mean something's wrong with your connective tissue or that you've got a syndrome. But if hypermobility begins to really bother you and suddenly becomes very problematic (often overnight), it could be cause for investigation for a connective tissue disorder, such as EDS, Di Bon told Newsweek. Easy test for hypermobility 3 The nine-point Beighton score is a simple assessment tool used to evaluate joint hypermobility. It involves testing the flexibility of several joints, with each positive result adding a point to the score. A higher score generally indicates greater joint hypermobility. The score is calculated by adding up the points earned for each of the five tests. What is Raynaud's disease? If the finger can be bent back more than 90 degrees - one point for each hand. If the thumb can be bent backward so that it touches or goes beyond the palm of the hand or wrist - one point for each hand. Being able to extend the elbow beyond 10 degrees - one point for each elbow. Being able to extend the knee beyond 10 degrees - one point for each knee. The ability to bend forward from the waist, with knees fully extended, and touch the palms flat on the floor - one point if the palms can touch the floor. A score of more than five out of nine, for an adult, indicates a person has hypermobility. For a child, it's a score of at least six out of nine. The score alone doesn't confirm EDS. A hypermobile-EDS diagnosis is "based on a checklist where the patient meets certain criteria, including a Brighton score level," Dr Bernadette Riley, director of the Ehlers‑Danlos Syndrome/Hypermobility Treatment Center at New York Institute of Technology's College of Osteopathic Medicine, told Newsweek. Official figures for diagnosed cases of EDS in the UK are around 135,000 to 300,000. The actual number of people living with the condition is likely higher due to underdiagnosis and misdiagnosis. EDS can manifest at different ages, depending on the specific type, with some forms being evident at birth and others not being diagnosed until adulthood. While symptoms of inherited EDS can be present at birth, they may not be noticeable until puberty. Some milder forms are often not diagnosed until early adulthood, while more severe types are typically diagnosed in childhood. Symptoms of Ehlers-Danlos Syndromes Ehlers-Danlos syndromes (EDS) are a group of rare inherited conditions that affect connective tissue. Connective tissues provide support in skin, tendons, ligaments, blood vessels, internal organs and bones. EDS can affect people in different ways. For some, the condition is relatively mild, while for others their symptoms can be disabling. Different types of EDS are caused by faults in certain genes that make connective tissue weaker. There are 13 types of EDS, most of which are rare. Hypermobile EDS (hEDS) is the most common type. Several types of EDS may share some symptoms. These include: an increased range of joint movement (joint hypermobility) stretchy skin fragile skin that breaks or bruises easily If you suspect symptoms of EDS, speak to your GP. Source: NHS People with EDS have also been found to be more susceptible to respiratory issues, including a range of symptoms from shortness of breath and exercise limitations to conditions like pneumothorax. A 2022 study published in Respiratory Medicine and Research found that almost 85 percent of EDS patients had signs of respiratory problems. And mental health conditions are also widely reported among EDS patients. Another 2022 study found almost half of the EDS patients surveyed had depression and over half had "probable" anxiety. There's no cure for EDS, however, various treatments and lifestyle adjustments can help manage symptoms, prevent complications, and improve quality of life.
Newsweek
04-05-2025
- Health
- Newsweek
Simple Flexibility Test May Reveal Hidden Respiratory Risk
Based on facts, either observed and verified firsthand by the reporter, or reported and verified from knowledgeable sources. Newsweek AI is in beta. Translations may contain inaccuracies—please refer to the original content. Extraordinary joint flexibility may foreshadow unexpected trouble in the lungs. Because connective tissue runs through nearly every organ, when it "is weakened or unstable," Taylor Goldberg, a hypermobility coach based in Colorado, told Newsweek, it "can affect breathing mechanics and airway stability." "Anecdotally, many people with Ehlers-Danlos Syndromes (EDS) seem to have more difficulty recovering from respiratory illnesses," she added. EDS is a group of genetic conditions that weaken the body's collagen "glue." Skin stretches farther, joints bend too far and sometimes dislocate, and internal tissues bruise or tear more easily. People may have chronic pain, fatigue or dangerous blood‑vessel ruptures, so careful monitoring and joint‑protecting exercise are important throughout their lives. File photo: a hypermobile thumb joint (left) and a hypermobile wrist joint (right). File photo: a hypermobile thumb joint (left) and a hypermobile wrist joint (right). Matunka left) and Pheelings Media (right/Getty Images What Is Hypermobility? "Hypermobility is the ability to move your joints beyond what is considered a normal range of motion for an average person," Jeannie Di Bon, a U.K.-based hypermobility and EDS specialist told Newsweek. "Just because you're hypermobile, it doesn't mean there's anything wrong with your connective tissue, it doesn't mean you've got a syndrome, but it can become symptomatic through a trauma," Di Bon said, pointing to various illnesses and traumas. "All of a sudden, hypermobility that wasn't really bothering you suddenly becomes very problematic, often overnight for some people," she added. It's when someone has symptomatic hypermobility that you'd investigate if they have a connective tissue disorder, such as EDS, Di Bon said. One Easy Test To Determine Hypermobility Hypermobility is often gauged with the nine‑point Beighton Score, which awards one point per side for five maneuvers: bending the pinkie back 90°, touching the thumb to the forearm, hyper‑extending elbows or knees more than 10°, and placing palms flat on the floor with straight knees. A score of more than five out of nine, for an adult, indicates a person has hypermobility. For a child, it would be at least six out of nine. This score alone does not confirm EDS. A hypermobile‑EDS diagnosis is "based on a checklist where the patient meets certain criteria, including a Beighton score level," Dr. Bernadette Riley, director of the Ehlers‑Danlos Syndrome/Hypermobility Treatment Center at New York Institute of Technology's College of Osteopathic Medicine, told Newsweek. The Beighton Score is "helpful in the right context but should always be part of a bigger clinical assessment," Goldberg said. "Just having symptomatic hypermobile joints isn't enough to diagnose EDS—you also need systemic signs, a clinical history, and in some cases, genetic confirmation." Why Those With EDS Can Be More Susceptible To Respiratory Issues While there is limited research on EDS, breathing pattern disorders have been found among patients. A 2022 study published in Respiratory Medicine and Research found that almost 85 percent of EDS patients had signs of respiratory problems. Riley said that a systemic review she worked on showed "hematomas, hemoptysis, obstructive sleep apnea (OSA), and pneumothorax as some respiratory complications seen" among EDS patients. "While we need more formal research, clinical experience suggests that people with EDS might have a harder time with respiratory illnesses compared to the general population," Goldberg said. Di Bon, who has EDS herself, said she'd had pneumonia multiple times, as well as COVID-19 four times, and she attributed this to her not "breathing well" due to EDS. People with EDS can hold their inward breaths for too long in a form of "bracing," she said, as "it's a subconscious way of trying to be stable, because we lack stability." Despite it "not being functional or healthy," she said, this bracing form of breathing is very common. This means a patient is likely "holding all their tension up and breathing here," Di Bon said, gesturing to the very top part of her chest, "and their shoulders are up to their ears and the diaphragm isn't moving and they're not even aware that they're doing that because that's how they've always breathed." This way of breathing could make those with EDS more susceptible to respiratory diseases like COVID-19 and pneumonia, Di Bon said, because the lowest parts of their lungs often remain inactive — a "breeding ground" for infections due to the lack of movement. There is also an emotional element to it, Di Bon added, as a lot of EDS patients have "had trauma, medical gaslighting, trying to find help and not getting help, so stress, anxiety, tension all starts to impact someone's breathing." Mental health conditions are also widely reported among EDS patients. A 2022 study also found that almost half of the EDS patients surveyed had depression and over half had "probable" anxiety. However, EDS is a multi-systemic condition, and not every patient will have respiratory issues. As connective tissue disorders affect so many parts of the body in various ways, every patient's experience of it is very different.
