The most common hereditary connective tissue disorder is hypermobile Ehlers-Danlos syndrome (hEDS), a condition where the body produces faulty connective tissue that makes joints overly flexible and skin unusually stretchy. Ehlers-Danlos syndrome as a group affects roughly 1 in 5,000 people, and hEDS is by far the most common subtype. That 1-in-5,000 figure is likely an underestimate, since many people with hypermobility go undiagnosed for years or never receive a formal diagnosis at all.
What Connective Tissue Disorders Actually Are
Connective tissue is the structural material that holds your body together. It forms the scaffolding of your skin, tendons, ligaments, blood vessels, and organs. When the genes responsible for building this tissue carry mutations, the result is connective tissue that’s weaker, stretchier, or more fragile than normal.
Most hereditary connective tissue disorders involve problems with collagen, the main protein in connective tissue. Different subtypes of Ehlers-Danlos syndrome affect different types of collagen. Classical EDS involves type V collagen, vascular EDS involves type III collagen, and several rarer forms involve type I collagen. In hypermobile EDS, the specific genetic cause hasn’t been pinpointed yet, which is one reason diagnosis can be tricky.
How hEDS Compares to Other Disorders
To put the numbers in perspective: Ehlers-Danlos syndrome as a whole occurs in roughly 1 in 5,000 to 1 in 25,000 people, with hEDS accounting for the vast majority of those cases. Marfan syndrome, another well-known connective tissue disorder that primarily affects the heart and skeleton, is considerably rarer at roughly 1.5 to 17.2 per 100,000 people. Vascular EDS, the most dangerous subtype, is rarer still at about 1 in 50,000 to 1 in 100,000.
There’s also a broader category called hypermobility spectrum disorders, which captures people who have significant joint hypermobility and related symptoms but don’t meet the full diagnostic criteria for hEDS. When you include this spectrum, hypermobility-related connective tissue problems are among the most common heritable conditions that doctors see in practice.
Symptoms Beyond Flexible Joints
The hallmark of hEDS is joints that bend well past their normal range of motion. This might sound harmless or even advantageous, but joints that move too far are also joints that dislocate easily and develop chronic pain over time. Joint dislocations, subluxations (partial dislocations), and persistent aching are everyday realities for many people with the condition.
Skin changes are the second major feature. People with Ehlers-Danlos syndrome often have skin that feels exceptionally soft and velvety and stretches noticeably more than normal. In some subtypes, the skin is also fragile. Wounds heal slowly, stitches can tear through the tissue, and scars may end up thin and papery.
What catches many people off guard is the range of symptoms beyond joints and skin. Chronic fatigue, digestive problems, dizziness upon standing, and widespread pain are all commonly reported. These symptoms can be disabling even when the joint hypermobility itself seems mild. Many people spend years bouncing between specialists before someone connects the dots.
The Vascular Subtype Is Different
Vascular EDS deserves separate mention because it carries serious risks that other subtypes don’t. In this form, the walls of blood vessels, the intestines, or the uterus can weaken to the point of rupture. These ruptures can be life-threatening. People with vascular EDS sometimes share distinctive facial features: a thin nose, thin upper lip, small earlobes, and prominent eyes. This subtype is rare, but it’s the reason doctors take a careful family history when evaluating someone for connective tissue problems.
How Hypermobility Is Measured
The first step in evaluating suspected hEDS is usually the Beighton score, a nine-point scale that measures how far certain joints can bend. You earn one point for each of the following movements you can perform:
- Bending forward and placing your hands flat on the floor without bending your knees (1 point)
- Straightening each elbow past neutral, into hyperextension (1 point per elbow)
- Bending each pinky finger backward beyond 90 degrees (1 point per finger)
- Bending each thumb back to touch your forearm (1 point per thumb)
- Straightening each knee past neutral, into hyperextension (1 point per knee)
A higher score indicates greater hypermobility. But the Beighton score alone doesn’t diagnose hEDS. Doctors also ask about your history of joint pain, dislocations, and whether you were unusually flexible as a child. The full diagnostic criteria for hEDS layer in additional requirements, including skin involvement, family history, and the presence of related symptoms like chronic pain or fatigue. Because there’s no genetic test for hEDS (unlike other EDS subtypes), diagnosis is entirely clinical.
Managing Symptoms Day to Day
There’s no cure for hEDS or other hereditary connective tissue disorders, so treatment focuses on managing symptoms and protecting vulnerable joints. Physical therapy is the cornerstone. The goal isn’t to increase flexibility (that’s already excessive) but to strengthen the muscles around hypermobile joints so they provide the stability that loose ligaments can’t. Low-impact exercise like swimming, cycling, and Pilates is generally recommended over high-impact activities that stress joints further.
Pain management is often an ongoing challenge. Many people with hEDS deal with chronic musculoskeletal pain that doesn’t respond well to standard painkillers. A physical therapist experienced with hypermobility can help identify movement patterns that reduce strain, and bracing or taping specific joints can prevent repeated subluxations during daily activities.
For people whose symptoms include fatigue, digestive issues, or dizziness, management gets more individualized. These associated problems sometimes need their own treatment plans. Lifestyle adjustments, including staying hydrated, eating smaller meals, and pacing physical activity to avoid crashes, make a meaningful difference for many people. The overall approach is less about any single treatment and more about building a daily routine that accounts for connective tissue that doesn’t behave the way it should.