Hypermobility / Ehlers Danlos Syndrome (EDS)

Hypermobility Spectrum Disorder (HSD) and Ehlers-Danlos Syndrome (EDS) are both conditions related to joint hypermobility and connective tissue, but they differ in terms of their diagnostic criteria and the severity of associated symptoms.

Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders caused by various genetic mutations affecting collagen production. There are several subtypes of EDS, each with specific diagnostic criteria. EDS is often characterized by joint hypermobility, skin that is hyper-elastic and fragile, and a range of other symptoms depending on the specific subtype.

Hypermobility Spectrum Disorder (HSD) is a condition characterized by joint hypermobility and musculoskeletal symptoms, but it does not meet the criteria for a specific subtype of EDS. Individuals with HSD may experience joint pain, instability, and other musculoskeletal issues similar to those seen in EDS, but they may not exhibit the additional features required for an EDS diagnosis. The diagnostic criteria for HSD are more focused on joint hypermobility and the impact of hypermobility on daily life.

In summary, EDS is a specific group of connective tissue disorders with defined subtypes, each associated with specific genetic mutations and additional clinical features. HSD, on the other hand, is a broader category that includes individuals with joint hypermobility and related symptoms but does not fit the criteria for a specific EDS subtype. The distinction is made based on the specific diagnostic criteria and the presence or absence of features associated with the various subtypes of EDS. It's worth noting that both EDS and HSD are recognized as part of a spectrum of hypermobility-related disorders and more research is needed in both categories.

For simplicity in this article, both conditions will be referred to as EDS.

What are the subtypes of EDS?

There are several subtypes of Ehlers-Danlos syndrome, each with its own specific characteristics, but they all share a common feature of hypermobility (excessive joint movement) and skin that is often hyper-elastic and fragile. The severity of symptoms can vary widely among individuals with EDS.

The different subtypes of EDS include:

  1. Hypermobile EDS (hEDS): Characterized by joint hypermobility and musculoskeletal pain. Skin involvement is usually minimal.
  2. Classical EDS (cEDS): Characterized by hypermobility, skin that is smooth, velvety, and hyper-elastic, and a tendency to develop atrophic scars. Joint dislocations and subluxations are common.
  3. Vascular EDS (vEDS): Considered the most severe form, it involves fragile blood vessels and internal organs, increasing the risk of arterial and organ rupture. People with vEDS often have thin, translucent skin.
  4. Kyphoscoliotic EDS (kEDS): Characterized by severe muscle hypotonia at birth, progressive scoliosis, and joint hypermobility. Individuals with kEDS may have a risk of ocular globe rupture.
  5. Arthrochalasia EDS (aEDS): Involves severe joint hypermobility and congenital hip dislocation. Skin may be hyper-elastic, and individuals may have a risk of recurrent joint subluxations and dislocations.
  6. Dermatosparaxis EDS (dEDS): Characterized by extremely fragile, sagging skin that may be soft and doughy to the touch. Joint hypermobility is also present.
  7. Musculocontractural EDS (mcEDS): Involves congenital muscle hypotonia, joint contractures, and characteristic facial features. Skin involvement is variable.

It is important to note that not all genetic mutations for EDS have been identified, and further research is being conducted. 

How is EDS diagnosed?

Diagnosing EDS involves a combination of clinical evaluation, family history analysis, and sometimes genetic testing. The process can be complex and may require input from various healthcare professionals. Here are the general steps involved in the diagnosis:

  1. Clinical Evaluation: A healthcare professional, often a rheumatologist, geneticist, or physiotherapist will conduct a thorough physical examination to assess joint hypermobility, skin characteristics, and other clinical features associated with EDS. Criteria for diagnosing specific subtypes of EDS (such as hypermobility, classical, vascular, etc.) are established by the International Consortium on EDS and the International EDS Classification.
  2. Family History: Obtaining a detailed family history is crucial, as many types of EDS are inherited. Identifying a pattern of EDS or related symptoms in family members can provide important information for diagnosis.
  3. Genetic Testing: Genetic testing may be considered, especially when there is a suspicion of a specific subtype of EDS. However, not all subtypes have identified genetic markers, and negative genetic test results do not necessarily rule out EDS. Genetic testing may involve sequencing specific genes associated with EDS, and it is usually coordinated by a genetic counselor or geneticist.
  4. Other Diagnostic Tests: Additional tests may be performed to assess specific symptoms or complications associated with EDS. For example, imaging studies like MRI or CT scans may be used to evaluate joint and vascular issues.
  5. Diagnostic Criteria: The diagnosis of EDS is often based on specific diagnostic criteria established for each subtype. These criteria consider factors such as joint hypermobility, skin characteristics, family history, and other associated features.

It's important to note that the diagnosis process can be complex due to the variability in symptoms and the overlap with other connective tissue disorders. Additionally, since EDS is a spectrum of disorders, not all individuals will fit neatly into a specific subtype. In some cases, individuals may be diagnosed with Hypermobility Spectrum Disorder (HSD) if they exhibit joint hypermobility and related symptoms but do not meet the criteria for a specific EDS subtype.

For an accurate diagnosis and appropriate management, individuals suspected of having EDS should consult with healthcare professionals experienced in connective tissue disorders, such as rheumatologists, geneticists, or other specialists.

What are some conditions commonly associated with EDS?

Individuals with EDS often experience a range of comorbid conditions, including:

  • Postural Orthostatic Tachycardia Syndrome (POTS): POTS is a condition characterized by an abnormal increase in heart rate upon standing, leading to symptoms such as dizziness, lightheadedness, and fainting. POTS is commonly associated with EDS, particularly the hypermobility subtype.
  • Digestive Issues: Gastrointestinal problems are frequently reported in individuals with EDS and HSD. These may include IBS, constipation, gastroesophageal reflux disease (GERD), and functional gastrointestinal disorders.
  • Mast Cell Activation Syndrome (MCAS): MCAS is a condition where mast cells, a type of immune cell, release excessive amounts of chemical mediators, leading to a variety of symptoms. MCAS is seen in some individuals with EDS, and it can cause symptoms such as hives, abdominal pain, nausea, and anaphylaxis.
  • Chronic Fatigue: Fatigue is a common and often debilitating symptom in individuals with EDS and HSD. The reasons for fatigue can be multifactorial and may include factors such as chronic pain, disrupted sleep patterns, and autonomic dysfunction.
  • Multiple Chemical Sensitivties (MCS): MCS is a condition where individuals experience adverse reactions to low levels of chemical exposure, often from everyday products and environmental factors. Common triggers may include scents, perfumes, cleaning products, pesticides, and other chemicals present in the air or personal care items.
  • Increased Sensitivity to Pharmaceutical Medications: Some individuals with conditions like EDS and HSD may experience heightened sensitivity to pharmaceutical medications.
  • Autonomic Dysfunction: Autonomic nervous system dysfunction can manifest in various ways, contributing to symptoms such as orthostatic intolerance, temperature regulation issues, and disturbances in blood pressure and heart rate.
  • Dysautonomia: Dysautonomia, a dysfunction of the autonomic nervous system, is often seen in individuals with EDS and can contribute to symptoms like dizziness, fainting, and difficulty regulating bodily functions.
  • Chronic Headaches and Migraines: Individuals with EDS and HSD may experience chronic headaches and migraines, which can be related to joint instability, muscle tension, or other factors.
  • Connective Tissue Involvement: In addition to joint hypermobility, individuals with EDS and HSD may experience problems in other connective tissues, such as blood vessels, skin, and internal organs, leading to a variety of symptoms.

It's important to note that the presentation of these conditions can vary widely among individuals, and not everyone with EDS will experience the same set of comorbidities. Management often involves a multidisciplinary approach, addressing specific symptoms and improving overall quality of life.

How are patients with EDS often gaslit by doctors?

Gaslighting refers to a form of psychological manipulation where an individual's perception of reality is intentionally distorted by another person, often leading the individual to doubt their own experiences, emotions, or thoughts. Unfortunately, some patients with EDS may encounter instances of gaslighting in their interactions with healthcare providers. Here are some ways in which patients with EDS may experience gaslighting:

  • Dismissal of Symptoms: Patients with EDS may report a wide range of symptoms, including chronic pain, fatigue, and joint instability. Some doctors may dismiss or downplay these symptoms, attributing them to psychological factors rather than acknowledging the physical aspects of the condition.
  • Attributing Symptoms to Mental Health Issues: There might be instances where doctors attribute physical symptoms to mental health issues without thoroughly investigating the underlying physical causes. This can lead patients to question the legitimacy of their physical complaints.
  • Minimizing Pain: Patients with EDS often experience chronic pain, which can be difficult to quantify objectively. Some healthcare providers may minimize the severity of pain or question its existence, making it challenging for patients to receive appropriate pain management.
  • Labeling as Hypochondriacs: Due to the complex and multisystem nature of EDS, patients may seek medical attention for various symptoms. Unfortunately, some doctors may label them as hypochondriacs or suggest that they are overly concerned about their health without thoroughly investigating the underlying issues.
  • Disbelief in Joint Instability: Joint hypermobility and instability are hallmark features of EDS. However, some healthcare providers may not fully grasp the extent of joint issues and may dismiss complaints about joint instability, attributing them to normal variations or lack of strength.
  • Delayed Diagnosis: EDS is often underdiagnosed or misdiagnosed, leading patients to face a prolonged journey to get an accurate diagnosis. This delay can contribute to feelings of frustration, doubt, and questioning one's own experiences.

It's crucial for patients with EDS to advocate for themselves, seek second opinions if needed, and collaborate with healthcare professionals who are knowledgeable about the condition. Finding a supportive healthcare team that listens to and validates the experiences of individuals with EDS is essential for effective management and overall well-being. If a patient feels their concerns are not being taken seriously, seeking care from specialists familiar with EDS may be beneficial.

How does Ananta Health treat EDS?

At Ananta Health, our approach to managing EDS emphasizes the control of symptoms and the identification of triggers. We initiate the process with a comprehensive intake and consultation that incorporates advanced BioScan SRT testing.

During the initial appointment, we delve into discussions encompassing dietary adjustments, lifestyle modifications, and recommendations for supplements and herbs tailored to address the specific challenges associated with these conditions. It's essential to recognize that EDS manifests with diverse symptoms unique to each individual, and achieving control over these symptoms may span several months to a few years. Upon stabilization of symptoms, a personalized management plan will be meticulously crafted to ensure ongoing well-being.