Hypermobility joint disorder can be caused by a wide range of conditions and diseases. When someone has hypermobile joints, it simply means certain joints in their body can easily move beyond their normal range of motion. Individuals who are “double-jointed” technically have hypermobile joints.
Hypermobile joints are common in up to 15% of otherwise normal children. The “loose joints” of these kids generally tighten up as they age, and hypermobility disappears. This is fairly common, and often causes no symptoms, and requires no treatment. Joint hypermobility is usually a genetically inherited trait.
However, some instances of joint hypermobility are caused by genetic diseases that affect the body’s joints, connective tissue, skin, and blood vessels. Three of the more serious causes of hypermobility joint disorders are called Ehlers-Danlos Syndrome (EDS), Marfan Syndrome (MFS), and Joint Hypermobility Syndrome (JHS).
Are you at your wit’s end with hypermobility problems?
Do you think you may have hypermobile joints? If so, this article is for you. We’ll look at causes and main symptoms. Finally, we’ll talk about how the syndromes are diagnosed, and some basic treatment options. *
Let’s get started.
Hypermobility Joint Disorder: Ehlers-Danlos Syndrome (EDS)
What is EDS?
EDS encompasses a group of disorders that share common features, including hypermobile joints, easy bruising, skin that is too loose and stretches too easily, and weakness of the body’s tissues. EDS is inherited through genes passed from parents to children. There are different categories of EDS based on different transmitted genes. The common factor in EDS is abnormalities in genes that control the production of collagen. Collagen acts as the basic “glue” that holds our tissues together. Abnormal genes that affect collagen account for the symptoms of loose joints and overall tissue fragility commonly seen with EDS.
What Causes EDS?
EDS is caused by genetic mutations in the genes that control the production of collagen. Children inherit these mutated genes from one or both parents, but the damaged genes are often passed to the child from one parent.
One main symptom is hypermobile joints that can result in multiple joint dislocations. Another is soft, loose skin that tears and/or bruises easily without significant trauma. The skin may appear saggy and stretch too easily and excessively. Severe forms of EDS affect the body’s vascular systems. This can cause blood vessel or bowel ruptures and sometimes results in death.
How is EDS Diagnosed?
Since EDS is an inherited genetic disease, proper diagnosis is generally made by examining the individual’s family history. Some types of EDS are determined with a skin biopsy that examines the chemical makeup of the connective tissue.
Basic EDS Treatment Options
Treatment of EDS depends upon the way it manifests in a given individual. Skin protection is critical – from injury, sun, scarring, etc. Injuries to tissue must be prevented and infections treated with care. Skin and surrounding tissue may be extremely fragile, which makes suturing difficult. The joint injury must be avoided. Certain exercises that strengthen muscles that support the joints may help to minimize injury to the joints. Bracing may also be needed to maintain joint stability.
Hypermobility Joint Disorder: Marfan Syndrome (MFS)
What is MFS?
MFS is a genetic, inherited condition that affects connective tissue. Connective tissue is found throughout the body. It holds the body together and provides an important structural framework. MFS makes the connective tissue defective. Because so many body systems contain connective tissue, MFS wreaks havoc on the lungs, skin, nervous system, blood vessels, eyes, joints, and the skeleton.
What Causes MFS?
MFS is caused by a defect in the gene that controls the structure of fibrillin-1. Fibrillin-1 is a protein that plays an important role in the development of connective tissue. Those with MFS are born with the disorder. MFS is inherited from parents, although it’s possible for two parents without the fibrillin-1 gene mutation to have children with MFS. However, this only occurs in 25% of MFS cases.
Although everyone with MFS has a defect in the fibrillin-1 gene, not everyone has the same symptoms to the same degree. Different types of gene mutations occur in different families. This means the defective gene expresses in different ways within different people, a phenomenon known as variable expression. It’s currently not understood why variable expression happens in people with MFS.
Different people are affected in different ways by MFS. Symptoms can range from mild to severe within different individuals. MFS symptoms generally progress as a person ages. Among many other bodily systems, MFS affects the skeleton, including bones in the arms, legs, fingers, toes, and joints. Because joints are surrounded with connective tissue, those with MFS have hypermobile joints that are prone to injury. MFS also causes scoliosis or lateral spinal curvature. The spine is a collection of joints, so MFS can severely degrade spinal health.
How is MFS Diagnosed?
Marfan syndrome can’t be diagnosed with any specific laboratory test, like a blood or skin test. The doctor and/or geneticist relies on observation and a complete medical history of the patient. Doctors can diagnose MFS if their patients have a family history of the disease. Patients with a family history of MFS must present specific problems in at least two of the body systems MFS is known to affect. Patients with no MFS in their family history must show at least three body systems affected before a diagnosis is made. At least two of the three systems must show clear indications specific to MFS.
Basic MFS Treatment Options
There is currently no cure for MFS. A cure would involve targeting and changing the specific gene responsible for the disorder before birth. Annual evaluations of the skeleton are required to detect changes in the spine or the sternum. Evaluation is especially important in times of rapid bone growth like adolescence. Serious bone malformations can be disfiguring and can prevent proper function of the heart and lungs. Orthopedic braces or surgery may be required to limit damage and disfigurement in some cases of MFS.
Hypermobility Joint Disorder: Joint Hypermobility Syndrome (JHS)
What is JHS?
Like Marfan syndrome, JHS is also a connective tissue disorder. Marfan degrades connective tissue throughout the body, but JHS primarily affects the musculoskeletal system. But other body systems can also be impacted by JHS, particularly the gastrointestinal tract. Some evidence suggests a correlation of JHS with inflammatory bowel diseases, such as Crohn’s disease and ulcerative colitis. The joint hypermobility associated with JHS tends to decrease with age because the body becomes naturally less flexible.
What Causes JHS?
Hypermobile joints tend to be inherited via specific genes responsible for the production of collagen. Collagen is a protein that helps glue joint tissues together. Parents pass these genes on to their children. As a result, JHS tends to run in families.
The joints of people with JHS are capable of excessive movement, so they’re more susceptible to injuries like sprains and dislocations. Scoliosis occurs more frequently with JHS and can lead to back pain. Symptoms of JHS include elbow, hip, finger, and knee pain. Gastrointestinal issues are also common with JHS, manifesting as rectocele, hiatus hernia, constipation/diarrhea, non-specific abdominal pain, and nausea.
How is JHS Diagnosed?
There is no blood test for JHS, so it’s diagnosed via examination of the affected joints to see if they move easily beyond the normal expected range. For instance, the joints in the middle of the fingers may bend backward more than usual.
Basic JHS Treatment Options
JHS often requires no treatment and causes no symptoms. Many with JHS find it improves in adulthood. Staying physically fit helps strengthen joints and muscles to prevent injury. Joint pain can be relieved with medications like Tylenol. Physical therapy is sometimes needed to help rehabilitate hypermobile joints after an injury, and can also help prevent re-injury of joints.
Are You Experiencing Hypermobility Symptoms? Don’t Know Where to Turn?
There are many resources available if you suspect you’re suffering from any of the conditions listed above. Check out our hypermobility assessment page, our clinic, and learn the basics about hypermobility syndrome.
Many diseases and conditions can cause hypermobility joint disorder. “Loose joints” by themselves are not a significant problem for most people because they often exhibit no symptoms. Keep in mind that something is only a “disorder” if it causes pain or other negative symptoms.
But some instances of hypermobility joint disorder are caused by serious genetic diseases like Ehlers-Danlos syndrome or Marfan syndrome. In addition to causing joint problems, they sometimes have a seriously negative impact on other bodily systems, and even result in death. That’s why it’s important to find real hypermobility solutions, just in case your loose joints indicate something more serious.