Hypermobility is a condition where joints have greater flexibility than usual. People with hypermobility can bend and extend their joints beyond normal ranges of motion. So far, this doesn’t sound too bad, right? Moreover, we usually envy people with hypermobility; after all, they can easily do splits, whereas an average person might need weeks, if not months, of training. Indeed, this condition can be harmless and even advantageous in certain sports and activities, such as gymnastics and dance, but it can also lead to various medical issues.
What might the world look like from the perspective of a person with hypermobility?
For people with Hypermobility Spectrum Disorders (HSD), everyday life can become a real challenge. Each morning begins with a feeling of heaviness and discomfort in the joints and muscles. Even with slow movements, they feel their body struggling with the uncertainty and instability of the joints as if trying to adapt to constant changes.
Pain becomes their constant companion, sometimes sharp, sometimes dull, but always present. Even during moments of rest, it reminds them of its existence, causing almost every movement to be accompanied by a subtle tension.
This state of uncertainty affects their behaviour and decision-making. Such people might avoid activities that cause discomfort, not realizing what exactly bothers them. It can be difficult for them to explain their feelings and experiences to others because they do not know what is happening with their bodies. They may feel isolated and misunderstood as they gradually realize that others do not experience the same issues and cannot understand their internal struggles. It is not surprising that these people have a higher tendency towards anxiety and depression, and panic attacks are also not uncommon for them.
This only describes a part of what people with such conditions go through. The problem is not just with their joints, but with all the connective tissues in the body. These issues are what we will discuss now.
What do we know about hypermobility today?
Hypermobility Spectrum Disorders (HSD) and Ehlers-Danlos Syndrome (EDS) are conditions associated with increased joint mobility, but they have different characteristics and consequences. HSD is characterized by joint hypermobility leading to pain, fatigue, and a higher risk of injuries, usually without other symptoms. The diagnosis of HSD is based on a clinical assessment of joint mobility and the exclusion of other diseases.
EDS, on the other hand, is a group of hereditary connective tissue disorders that include not only joint hypermobility but also hyperelasticity of the skin, tissue fragility, and other systemic manifestations.
Until 2017, Hypermobility Spectrum Disorders (HSD) and Ehlers-Danlos Syndrome (EDS) were often considered part of a single group of disorders related to joint hypermobility. However, in 2017, there were significant changes in the classification and diagnosis of these conditions. The new criteria, presented by the international classification of Ehlers-Danlos syndromes, distinguished the hypermobile type of EDS (hEDS) as a separate category, while other cases of hypermobility that did not meet the criteria for hEDS were classified as Hypermobility Spectrum Disorders (HSD). These changes helped to more clearly distinguish patients with hereditary forms of hypermobility from those whose hypermobility was due to other causes. Now, HSD is considered a separate condition with a focus on managing symptoms such as pain and injuries, whereas EDS, including its hypermobile type, requires a more comprehensive approach that takes into account the systemic manifestations of the disease.
The Beighton Score
Until 2017, the Beighton score was the primary tool used for diagnosing joint hypermobility. It allowed for a quick initial assessment of the patient’s condition by examining the mobility of the most accessible joints: the bases of the thumbs and little fingers on both hands, the elbows, knees, and the joint at the base of the spine. In total, there are 9 joints assessed for a maximum score of 9 points. If a child scored 6 points, an adult under 50 scored 5 points, or an adult over 50 scored 4 points, this was sufficient for a diagnosis. However, over time, it became clear that these joints might not always exhibit hypermobility, even though the problem still existed. This realization led to the understanding in 2017 that hypermobility should be viewed as a spectrum of issues, complicating the diagnostic process.
How is hypermobility diagnosed now?
The diagnosis of Hypermobility Spectrum Disorders (HSD) and Ehlers-Danlos Syndromes (EDS) now includes several key steps:
- Clinical Assessment: The physician uses the Beighton score to assess joint mobility. The scale still includes 9 tests evaluating the flexibility of the same joints, and the total score indicates the degree of hypermobility. However, other symptoms such as pain, fatigue, and frequent dislocations are also assessed.
- Medical History: The doctor collects information about the patient’s symptoms and family history. A family history of hypermobility or similar symptoms can indicate hereditary causes.
- Exclusion of Other Diseases: To rule out other possible causes of joint pain and instability, additional tests such as blood tests, X-rays, and MRIs may be conducted.
- Genetic Testing: If Ehlers-Danlos Syndrome is suspected, genetic testing is performed to identify specific mutations characteristic of the 13 types of EDS.
What symptoms are commonly observed with these syndromes?
Let’s list all possible symptoms caused by connective tissue disorders.
Spectrum of Issues in Hypermobility Spectrum Disorders (HSD)
Musculoskeletal Problems:
- Chronic joint and muscle pain
- Joint dislocations and subluxations
- Arthritis and early onset osteoarthritis
Fatigue and Weakness:
- Chronic fatigue
- Muscle weakness
Neurological Symptoms:
- Headaches and migraines
- Neuropathies (nerve compressions)
Other Symptoms:
- Coordination and balance problems
- Increased fatigue
Spectrum of Issues in Ehlers-Danlos Syndromes (EDS)
Musculoskeletal Problems:
- Joint hypermobility and dislocations
- Scoliosis and other spinal deformities
- Flat feet
- Chronic pain
Skin Symptoms:
- Hyperelasticity of the skin
- Easy bruising
- Slow wound healing and atypical scarring
Vascular Problems:
- Fragility of blood vessels leading to easy bruising and spontaneous bleeding
- Aneurysms and vessel ruptures (especially in the vascular type of EDS)
Neurological and Autonomic Symptoms:
- Dizziness and fainting (especially with postural orthostatic tachycardia syndrome – POTS)
- Neuropathies
- Dysautonomia
Gastrointestinal Problems:
- Gastroesophageal reflux disease (GERD)
- Slow intestinal motility
- Digestive issues
Cardiovascular Problems:
- Mitral valve prolapse
- Aortic dilation and other structural heart abnormalities
Ophthalmological Problems:
- Myopia (nearsightedness)
- Problems with the lens and cornea
Dental and Gum Problems:
- Fragile teeth and a tendency for cavities
- Gingivitis and other gum diseases
Gynecological Problems:
- Pregnancy complications
- Risk of premature labor and tissue tears
As you can see, the list of possible issues is extensive. The complexity is compounded by the fact that these symptoms can appear in various combinations and severities in people with hypermobility, and not all symptoms may be present. This makes it very challenging to assess a patient’s condition.
Now you understand why these patients are often prescribed antidepressants without addressing their other issues. It’s Now you might understand why these patients are so often offered antidepressants without paying attention to their other problems. Probably because they come each time with a new symptom, which gives the impression that they are simply people with heightened anxiety or depression, and these conditions just need to be alleviated for the problems to stop. But, agree, anyone can develop anxiety or depression in the face of such health issues.
Are There Other Conditions Related to Connective Tissue Problems?
Let’s also list all the known conditions associated with hypermobility as of today:
- Joint Hypermobility Syndrome (HSD): Joint hypermobility, pain, and fatigue without systemic manifestations.
- Ehlers-Danlos Syndromes (EDS): 13 syndromes, all except hEDS can be confirmed by genetic tests. They may be characterized by chronic pain, hyperelastic skin, fragile blood vessels, joint hypermobility, etc.
- Marfan Syndrome: Tall stature, long limbs, cardiovascular problems, skeletal anomalies.
- Loeys-Dietz Syndrome: Arterial aneurysms, skeletal anomalies, characteristic facial features.
- Stickler Syndrome: Problems with vision, hearing, joints, early osteoarthritis.
- Osteogenesis Imperfecta: Bone fragility, possible joint hypermobility, blue sclera.
Overall, any discussion about the connection between hypermobility and other health problems will pertain to all these conditions. If there is an issue with connective tissues, it affects the entire body, not just the joints.
What diagnoses are most commonly found in people with hypermobility?
Joint Hypermobility Syndrome (HSD) and related conditions:
- Postural Orthostatic Tachycardia Syndrome (POTS): Excessive increase in heart rate upon standing, accompanied by dizziness and fainting.
- Irritable Bowel Syndrome (IBS): Chronic functional bowel disorder with abdominal pain, bloating, and changes in bowel habits.
- Fibromyalgia: Chronic widespread musculoskeletal pain, fatigue, and sleep disturbances.
- Temporomandibular Joint Disorders (TMJ): Disorders of the temporomandibular joint causing jaw and facial pain, and difficulty chewing.
- Mitral Valve Prolapse: An abnormality of the heart valve where it doesn’t close properly, which can lead to blood regurgitation.
- Rheumatoid Arthritis (RA): Inflammatory joint disease with pain, swelling, and joint destruction.
These conditions are frequently diagnosed in individuals with hypermobility, indicating a broad spectrum of associated health issues.
Ehlers-Danlos Syndromes (EDS) and related conditions:
- Osteoarthritis: A degenerative joint disease developing at an early age in patients with EDS.
- Osteoporosis: Decreased bone density, increasing the risk of fractures.
- Peripheral Neuropathy: Damage to peripheral nerves causing pain, numbness, and weakness.
- Chronic Fatigue Syndrome (CFS/ME): A condition of severe fatigue that does not improve with rest and worsens with physical or mental activity.
- Mastocytosis or Mast Cell Activation Syndromes (MCAS): A disorder where mast cells overreact and release chemical mediators causing allergy-like symptoms.
- Intervertebral Disc Herniation: Bulging or rupture of spinal discs leading to pain and possible neurological complications.
- Gastroesophageal Reflux Disease (GERD): A disease where stomach contents flow back into the esophagus causing heartburn and other symptoms.
- Craniocervical Instability (CCI): Instability of the junction between the skull and cervical spine causing headaches and neurological symptoms.
Additional related conditions:
- Leaky Gut Syndrome: A condition where the intestinal barrier function is impaired, leading to increased permeability, chronic inflammation, and heightened sensitivity to various substances. Many of the conditions listed here can be caused by a leaky gut.
- Mycotoxin Intoxication: A tendency to accumulate toxins produced by mold fungi, which can lead to chronic diseases and deterioration of overall health.
- Heavy Metal Intoxication: Increased sensitivity to heavy metals such as lead, mercury, and cadmium, which can cause neurological and other systemic disorders.
- Heightened Allergy Syndrome: A propensity to develop allergic reactions to various substances, including foods, pollen, chemicals, and medications.
- Autoimmune Diseases:
- Systemic Lupus Erythematosus (SLE): An autoimmune disease causing inflammation and damage to various organs and tissues.
- Sjögren’s Syndrome: An autoimmune disease affecting the salivary and tear glands, causing dry mouth and eyes.
- Systemic Scleroderma: An autoimmune disease causing hardening of the skin and connective tissues, potentially affecting internal organs.
Can the Body’s High Toxicity Cause Connective Tissue Problems?
As we mentioned, issues with connective tissues can lead to a greater tendency for a person to accumulate various types of toxins. Conversely, toxins can also cause problems with connective tissues. In this case, there might be a situation where EDS (Ehlers-Danlos syndrome) is not confirmed by genetic tests, but its symptoms are present.
This is particularly relevant for toxins that can cause inflammation or damage to connective tissue cells. Some toxins can have a direct impact on connective tissue cells, causing damage or even cell death. Others may promote inflammatory processes that can lead to the destruction of connective structures.
For example, heavy metals such as mercury, lead, and cadmium can accumulate in tissues, causing oxidative stress, inflammation, and damage to connective tissue cells. This can result in various connective tissue diseases, such as arthritis, collagenases, and even the development of hypermobility syndromes or related conditions.
Mycotoxins can also have a toxic effect on tissue cells, including connective tissue. This can contribute to the development of inflammation and the disruption of normal connective structure-function.
Additionally, neurotoxins produced by Borrelia burgdorferi, the bacterium responsible for Lyme disease, can have severe effects on the nervous system and connective tissues. These neurotoxins can induce inflammation and damage to cells, leading to various symptoms that might overlap with or exacerbate conditions like EDS.
Mast cell activation syndrome (MCAS) can also play a role in these processes. MCAS is a condition in which mast cells, part of the immune system, release excessive amounts of inflammatory mediators, leading to chronic inflammation and tissue damage. This can further contribute to the deterioration of connective tissues and complicate the clinical picture.
This can complicate diagnosis and treatment, as the underlying toxic effects may not be immediately apparent. In such cases, where hypermobility is secondary to other diseases, the associated problems may diminish or disappear completely after treating the underlying disease.
Treatment of Ehlers-Danlos Syndrome (EDS) and Hypermobility Spectrum Disorders (HSD)
When treating these conditions, it is important to determine the exact cause, including genetic tests and other examinations. The cause may not be genetic; for example, high histamine levels can lead to tissue damage followed by hypermobility.
Treatment itself is usually aimed at managing symptoms and improving the quality of life. This includes strengthening muscles, improving mobility, preventing injuries, and reducing pain through medication and other therapies (such as heat therapy and massage). Orthopedic devices to support the joints and special orthopedic footwear may also be used.
It is also necessary to monitor the patient’s healthy weight and blood sugar levels, as both increase the load on joints and blood vessels. Regular preventive examinations can help identify problems early and reduce the risk of new complications. Proper nutrition is also very important for such patients.
For EDS patients, it is important to have regular cardiologist check-ups and constant specialized skin care.
Social support and assistance in adapting to meet the needs of such patients are also crucial for their full life in society.
Conclusion
As you can see, the range of potential problems associated with joint hypermobility is indeed extensive, and proper diagnosis can take a considerable amount of time. Hypermobility often involves not only structural and functional disorders of the joints and connective tissue but also a wide range of systemic diseases and conditions. This underscores the importance of a multidisciplinary approach to diagnosis and treatment, involving various specialists—not only naturopathic doctors but also physiotherapists, osteopaths, geneticists, cardiologists, gastroenterologists, neurologists, and others—to provide comprehensive and personalized care for such patients.