General terms

This section defines key terms and foundational concepts related to Hypermobility, HSD, hEDS, EDS and associated conditions.

Autonomic Nervous System (ANS)	The part of the nervous system that controls automatic or involuntary bodily functions, including heart rate, breathing, digestion, blood pressure, sweating, and temperature regulation. The autonomic nervous system (ANS) has three main parts. The first part is in the brain, specifically in the lower brainstem near where the neck joins the skull (medulla oblongata) and the hypothalamus. The other two parts are found in the nerves outside the brain and spine. Dysfunction in the ANS is seen in conditions like POTS and dysautonomia.
Collagen and Collagen Disorders	Collagen forms the primary building blocks of skin, bones, tendons, ligaments, cartilage, and other connective tissues. Collagen provides strength, elasticity, and support to these tissues. Conditions in which the structure or production of collagen (a key protein in connective tissue) is abnormal, leading to issues such as joint hypermobility, fragile skin, and vascular complications.
Connective Tissue Disorders (CTD)	A broad category of genetic and acquired disorders affecting connective tissues, such as skin, ligaments, tendons, organs, and blood vessels. Connective tissues include collagen and other proteins. Collagen is the most abundant structural protein in the human body, it can be likened to the “glue or scaffolding that holds us together.”   Examples include EDS, Marfan Syndrome, and Loeys-Dietz Syndrome.
Dysautonomia	A term describing conditions that affect  the autonomic nervous system (ANS) or cause a “dys”-function of the ANS- hence, dysautonomia. The ANS  controls automatic or involuntary functions such as heart rate, digestion, blood pressure, and temperature regulation. When the ANS does not work properly, it can cause symptoms such as dizziness, fainting, abnormal heart rate, fatigue, and digestive issues. Common Types of Dysautonomia include POTS and NCS: Postural Orthostatic Tachycardia Syndrome (POTS) – Causes a rapid heart rate increase when standing, along with dizziness and fatigue. Neurocardiogenic Syncope (NCS) – Leads to fainting due to sudden drops in blood pressure.
Ehlers-Danlos Syndromes (EDS)	A group of hereditary connective tissue disorders that affect the skin, joints, and blood vessels. There are 13 subtypes of EDS, 12 of which have clear genetic markers. The most common type of EDS is Hypermobile EDS (hEDS), which shares many features with HSD but includes additional systemic issues and has no genetic or other known biomarker.
Generalised Hypermobility Spectrum Disorder (G-HSD)	A subtype of HSD affecting multiple joints throughout the body, often leading to pain, instability, and other systemic symptoms.
Heritable Connective Tissue Disorders (HCTD)	A subset of connective tissue disorders that are inherited and result from genetic mutations/defects affecting collagen or other structural proteins. Examples include Ehlers-Danlos Syndrome, Stickler Syndrome, and Osteogenesis Imperfecta.
Historical Terms for hEDS (e.g., Type III EDS, EDS-HT)	These terms were previously used to describe what is now known as hypermobile EDS (hEDS). The terminology changed in the 2017 EDS classification criteria.
Hypermobile Ehlers-Danlos Syndrome (hEDS)	The most common form of EDS, characterised by generalised joint hypermobility, chronic pain, and systemic symptoms such as fatigue, autonomic dysfunction, and gastrointestinal issues. Unlike other EDS types, hEDS currently has no known genetic marker.
Hypermobility	A condition where joints move beyond the normal range of motion due to lax connective tissues. It may be asymptomatic (no pain or issues) or associated with pain, instability, and systemic symptoms.
Hypermobility Spectrum Disorders (HSD)	A group of conditions where joint hypermobility is accompanied by symptoms such as pain, joint instability, and systemic involvement but does not meet the diagnostic criteria for Hypermobile Ehlers Danlos Syndrome or other types of Ehlers-Danlos Syndromes (EDS). Prior to a diagnosis of HSD all other reasons for hypermobility need to be excluded. There are two HSD diagnostic assessments: one for children (The 2023 paediatric HSD assessment is called the Diagnostic Criteria for Paediatric Joint Hypermobility) and one for adults. The adult diagnostic criteria for HSD focus on generalised joint hypermobility plus secondary musculoskeletal issues, distinguishing it from hypermobile Ehlers-Danlos Syndrome (hEDS) The term HSD came into affect with the 2017 hEDS diagnostic criteria.
Joint Hypermobility Syndrome (JHS)	An older term historically used for hypermobility-related conditions before the introduction of the HSD classification. Some people previously diagnosed with JHS may now be classified under HSD or hEDS.
Localised Hypermobility Spectrum Disorder (L-HSD)	A form of HSD where hypermobility is restricted to a specific joint or region, rather than affecting the entire body.
Marfan-like Connective Tissue Disorders	A category of disorders that share clinical features with Marfan Syndrome but have distinct genetic causes. These may include Loeys-Dietz Syndrome and other HCTDs.
Marfan Syndrome	Marfan Syndrome is a genetic condition that affects the body’s connective tissue, which provides support and structure to organs, joints, and blood vessels. It is caused by a mutation in the FBN1 gene, which affects the production of fibrillin, a protein important for tissue strength and elasticity.
Mast Cell Activation Syndrome (MCAS)	A condition where mast cells (immune cells responsible for allergic responses) release excessive inflammatory chemicals (including histamines), leading to symptoms such as flushing, itchiness, asthma, hives, gastrointestinal symptoms, anaphylaxis-like reactions, and chronic inflammation.
Multisystemic Conditions	Disorders that affect multiple body  systems, requiring a multidisciplinary approach for diagnosis and management. EDS, POTS, MCAS, and fibromyalgia are examples of multisystemic conditions.
Neurodivergence	Neurodivergence means that a person’s brain works/processes in a way that is different from what is considered typical. This can affect how they think, learn, process information (including sensory inputs), and interact with the world. Neurodivergence includes conditions such as Autism or ASD, ADHD, dyslexia, dyspraxia, and more. Being neurodivergent is not a problem or something that needs to be “fixed”-it just means someone’s brain is wired differently. Everyone has unique strengths and challenges, and neurodivergent people may experience the world in ways that others do not.
Neuroimmune Disorders	Conditions that involve dysfunction of both the nervous system and immune system, often leading to symptoms such as fatigue, brain fog, pain, and immune dysregulation. Examples include Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) and MCAS. Neuroimmune disorders can overlap with Hypermobility Spectrum Disorder (HSD). Many people with HSD or hypermobile Ehlers-Danlos syndrome (hEDS) experience immune system dysfunction and neurological symptoms, which may be linked to underlying connective tissue differences affecting the nervous and immune systems.
Peripheral Hypermobility Spectrum Disorder (P-HSD)	A subtype of HSD in which hypermobility is primarily observed in the wrists, hands, fingers, ankles, and feet, rather than generalised throughout the body.
Postural Orthostatic Tachycardia Syndrome (POTS)	A form of dysautonomia in which the heart rate increases significantly upon standing, leading to dizziness, fatigue, brain fog, and fainting episodes. POTS is diagnosed following a combination of medical history and symptoms assessment. One of the main tests to diagnose POTS includes the NASA Lean Test – The patient lies down for about 10 minutes, then stands up, leaning against a wall while their heart rate and blood pressure are monitored (the legs should not be actively working). In POTS, the heart rate increases by 30+ beats per minute (bpm) in adults (or 40+ bpm in adolescents) within 10 minutes of standing, without a significant drop in blood pressure.
Systemic Disorders	A broad term for conditions that affect multiple body systems rather than being limited to one specific area of the body. Many connective tissue and autonomic disorders fall under this category. Systemic disorders often involve a combination of chronic symptoms, such as pain, fatigue, inflammation, and other complex health issues that require comprehensive care from multiple medical specialists.

Symptoms & signs of Hypermobility, HSD, EDS and related conditions

This section outlines common physical, neurological, and systemic symptoms experienced by individuals with Hypermobility, HSD, hEDS, EDS and associated conditions.

Allergic-like Reactions	Symptoms such as itching, swelling, and difficulty breathing, or swallowing that are often triggered by mast cell activation.
Anaphylaxis-like Episodes	Severe allergic-type reactions without an identified allergen, often seen in mast cell activation syndrome (MCAS).
Anxiety / Panic Attacks	Feelings of excessive worry or sudden intense fear, often linked to dysautonomia or chronic illness.
Arthralgia (Joint Pain)	Pain in one or multiple joints, often associated with hypermobility, inflammation, or instability.
Bloating	Excessive gas or stool retention in the digestive tract, often leading to abdominal discomfort and visible swelling.
Brain Fog	Difficulty with concentration, memory, and mental clarity, often experienced in conditions like POTS, MCAS, and fibromyalgia.
Bruising Easily	Increased tendency to bruise due to fragile blood vessels and weak connective tissue.
Bunions (Hallux Valgus)	A bony bump that forms at the base of the big toe due to joint misalignment.
Chest Pain (Non-cardiac)	Chest pain not related to heart disease, commonly caused by muscle strain, costochondritis (rib joint pain), or autonomic dysfunction.
Chronic Pain	Persistent pain that lasts longer than three months, commonly affecting muscles, joints, and nerves in hypermobility-related conditions.
Clubbing / Hammer Toes	Deformities of the toes that can occur due to structural foot instability.
Craniocervical Instability (CCI)	Excessive movement in the junction between the skull and spine, often leading to neurological symptoms, ANS symptoms and headaches.
Delayed Wound Healing	Slow recovery from cuts, wounds, and injuries due to impaired collagen function.
Depression	Persistent feelings of sadness or hopelessness, often associated with chronic conditions.
Dizziness / Light-headedness	A sensation of instability or unsteadiness, often due to autonomic dysfunction or blood circulation issues.
Dyspnoea (Shortness of Breath)	Difficulty breathing, often linked to dysautonomia, anxiety, asthma, allergies, or connective tissue abnormalities affecting the lungs.
Dysregulated Sweating (Hyperhidrosis / Hypohidrosis)	Excessive sweating (hyperhidrosis) or reduced sweating (hypohidrosis) due to autonomic dysfunction.
Exercise Intolerance	Reduced ability to tolerate physical activity due to symptoms like fatigue, dizziness, and muscle pain.
Fatigue	Persistent exhaustion not relieved by rest, often linked to chronic illness, dysautonomia, or muscle weakness.
Flat Feet (Pes Planus)	Collapsed arches in the feet, common in hypermobility spectrum disorders.
Food Intolerances	Adverse reactions to certain foods, often linked to histamine intolerance, mast cell activation, or digestive disorders.
Frequent Injuries (Sprains, Strains, Tears)	Recurring soft tissue injuries (impacting muscle, ligament, tendon, or joints) due to weak connective tissue.
Gastroesophageal Reflux Disease (GERD)	A chronic condition where stomach acid flows back into the oesophagus, causing heartburn and discomfort.
Gastrointestinal Dysmotility	Impaired movement of the digestive tract, causing slow digestion, bloating, constipation, and difficulty swallowing.
Gastroparesis	Delayed stomach emptying that leads to nausea, bloating, early fullness, and difficulty digesting food.
Headaches & Migraines	Recurring or severe headaches often linked to autonomic dysfunction, craniocervical instability, MCAS or neurological conditions.
Histamine Intolerance	The inability to properly break down histamine, leading to allergy-like symptoms such as headaches, flushing, and digestive issues.
Hyperlordosis (Swayback)	An exaggerated inward curve of the lower spine.
Hypotension (Low Blood Pressure)	Blood pressure that is lower than normal, sometimes leading to dizziness, fatigue, or fainting.
Insomnia	Difficulty falling or staying asleep, common in chronic illnesses.
Intracranial Hypertension	Increased pressure inside the skull, causing headaches, vision issues, and nausea.
Irritable Bowel Syndrome (IBS)	A functional gut disorder that causes bloating, diarrhea, constipation, and abdominal pain.
Joint Dislocation	A complete separation of the bones in a joint, which often requires medical intervention to reposition.
Joint Hypermobility	Joints that move beyond the normal range due to loose connective tissues, which can sometimes lead to pain and instability.
Joint Instability	Weak or lax ligaments and connective tissue that make joints prone to excessive movement, increasing the risk of dislocations or injuries.
Joint Subluxation	A partial dislocation where the joint moves out of place but returns on its own, often causing pain and discomfort.
Kyphosis	An excessive forward rounding of the upper spine, sometimes associated with spinal instability.
Mast Cell Degranulation	The release of inflammatory chemicals from mast cells, leading to allergy-like symptoms.
Muscle Stiffness	A sensation of tightness or reduced flexibility in muscles, often linked to fibromyalgia and hypermobility disorders.
Muscle Weakness	Decreased muscle strength, contributing to instability, fatigue, and difficulty with physical tasks.
Myalgia (Muscle Pain)	Generalised muscle pain that may be caused by overuse, poor muscle support, or nervous system dysfunction.
Nausea / Vomiting	A sensation of sickness with or without vomiting, commonly seen in POTS, MCAS, and digestive conditions.
Neurodivergence-related Sensory Issues	Sensory sensitivities, including hypersensitivity to light, sound, or touch.
Orthostatic Intolerance	Symptoms such as dizziness, lightheadedness, or fainting when standing up due to blood flow regulation issues.
Palpitations	An awareness of an irregular, fast, or strong heartbeat, often experienced in POTS, dysautonomia and anxiety disorders.
Post Exertional Malaise (PEM)	Post-exertional malaise (PEM) is a worsening of symptoms after even minor physical, mental, or emotional exertion. It is a hallmark feature of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) and is also reported in conditions like long COVID, fibromyalgia, and some types of dysautonomia.
Proprioception Issues (Balance & Coordination Problems)	Impaired body awareness and coordination, increasing the risk of falls and injuries.
Scarring Abnormalities	Irregular scars that may be thin, widened, or papery due to abnormal connective tissue healing.
Scoliosis	A sideways curvature of the spine, common in connective tissue disorders.
Skin Flushing	Reddening of the skin due to blood vessel dilation- blood rushing to an area of the skin, it is common in mast cell disorders and autonomic dysfunction.
Skin Hyperextensibility	Skin that stretches beyond normal limits due to abnormalities in collagen structure. Hyperelastic skin, stretches more than 1.5cm at the back of the hand.
Skin Fragility	Common in classical (cEDS) and vascular (vEDS) types, fragile skin is a common feature due to defects in collagen, the protein that provides strength and structure to connective tissues. Characteristics include thin delicate skin, which is often “see through” so that veins can easily be seen; delicate skin that easily tears, splits, or bruises. Skin that has poor healing times or leads to widened or thin, stretched, or papery scars.
Sleep Apnoea	A sleep disorder where breathing repeatedly stops and starts during sleep, often linked to fatigue, snoring, and daytime drowsiness.
Soft, Velvety Skin	Unusually smooth, doughy, and soft skin, often a sign of connective tissue disorders like Ehlers-Danlos Syndromes.
Spinal Instability	Abnormal movement of the spinal joints due to weak connective tissue or ligament laxity.
Stretch Marks (Striae Distensae)	Stripes or streaks on the skin due to the connective tissues of the skin being more lax, common in connective tissue disorders. They can also be seen in pregnancy and with weight gain/changes.
Syncope (Fainting)	Temporary loss of consciousness due to inadequate blood flow to the brain, often triggered by standing or stress.
Tachycardia (Rapid Heart Rate)	An unusually fast heart rate, often seen in POTS and autonomic dysfunction disorders.
Temperature Regulation Issues	Difficulty maintaining a stable body temperature, often causing excessive sweating, chills, or heat/cold intolerance.
Temperature Sensitivity	An abnormal reaction to heat or cold, common in dysautonomia and connective tissue disorders.
Temporomandibular Joint Disorder (TMJ / TMD)	Jaw dysfunction causing pain, clicking, or difficulty opening and closing the mouth.
Tendon and Ligament Laxity	Loose connective tissue leading to joint instability, hypermobility, and increased injury risk.

Diagnostic criteria & scales

Here, we summarise the clinical tools and assessment criteria used to diagnose hypermobility-related disorders and their co-occurring conditions.

2017 hEDS Diagnostic Criteria	The most recent guidelines used to diagnose hypermobile Ehlers-Danlos Syndrome (hEDS). These criteria include joint hypermobility, systemic involvement (such as skin changes and organ dysfunction), and a family history of the condition.
24-hour Holter Monitor (For POTS / Dysautonomia)	A portable device worn for 24 hours to continuously monitor heart rate and rhythm. It helps diagnose autonomic conditions such as POTS by detecting abnormal heart rate patterns during daily activities.
Autonomic Function Testing	A series of tests that evaluate how well the autonomic nervous system (ANS) controls involuntary bodily functions such as heart rate, blood pressure, and temperature regulation.
Beighton Score	A widely used assessment tool to measure joint hypermobility. It consists of a nine-point scale evaluating the flexibility of the fingers, elbows, knees, and spine.
Brighton Criteria	A diagnostic framework previously used to identify Joint Hypermobility Syndrome (JHS). It incorporates the Beighton Score and additional symptoms such as chronic pain, joint instability, and systemic involvement. It has largely been replaced by the 2017 hEDS criteria.
Hospital del Mar Assessment	The Hospital del Mar Criteria is a standardised method for assessing joint hypermobility. It evaluates multiple joints, including the little finger, thumb, elbow, shoulder, hip, knee, patella, ankle, and metatarsophalangeal joint. Each joint exhibiting hypermobility is assigned one point, with a maximum total score of 10 points. A higher score indicates greater overall joint laxity.
Diagnostic Criteria for Paediatric Joint Hypermobility (2023)	An assessment developed to help diagnose hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS) in children aged five and above, up until they reach biological maturity (either the completion of puberty or age 18). It requires exclusion of other conditions and can diagnose children into 4 categories of: Paediatric Generalised Joint Hypermobility (GJH), Paediatric Hypermobility Spectrum Disorder (HSD), and Paediatric Hypermobility Spectrum Disorder: Systemic Subtype.
Echocardiogram (For Aortic Root Dilatation)	An ultrasound of the heart that evaluates the size and function of the aorta (main blood vessel that leaves the heart). This test is used to monitor individuals with connective tissue disorders such as Marfan Syndrome, Loeys-Dietz Syndrome, and vascular EDS.
Genetic Testing	Laboratory tests that analyse a person’s DNA to identify mutations linked to genetic disorders. While genetic testing can confirm most types of EDS, there is currently no known genetic marker for hEDS.
Histamine Testing	Blood or urine tests used to measure histamine levels in the body. Elevated histamine may indicate histamine intolerance or mast cell activation syndrome (MCAS).
MALMO POTS assessment	The Malmö POTS Score (MAPS) is a validated questionnaire designed to assess the severity of symptoms in individuals with Postural Orthostatic Tachycardia Syndrome (POTS). It helps quantify symptom burden and track changes over time, especially in response to treatment adjustments.
MRI / CT for Structural Abnormalities	Medical Resonance Imaging (MRI) and Computed Tomography (CT) scans are imaging test that helps healthcare providers detect diseases and injuries and used to detect structural issues such as Chiari malformation, craniocervical instability (CCI), or tethered cord syndrome, which are sometimes associated with hypermobility conditions.
NASA lean test	The NASA Lean Test is a straightforward and accessible assessment used to help diagnose orthostatic intolerance (OI), a condition often associated with disorders like POTS (Postural Orthostatic Tachycardia Syndrome).
Serum Tryptase Test	A blood test measuring the levels of tryptase, an enzyme released by mast cells. Elevated tryptase can indicate mast cell disorders such as MCAS or systemic mastocytosis. Unfortunately, this test has extremely specific test conditions which if not followed perfectly can result in a “false” negative finding.
Skin Biopsy (Collagen Testing)	A microscopic examination of a small skin sample to assess collagen abnormalities. This test is used to diagnose certain connective tissue disorders, including classical EDS (cEDS) and vascular EDS (vEDS).
Tilt Table Test	A diagnostic test for Postural Orthostatic Tachycardia Syndrome (POTS) and other forms of dysautonomia. The patient is strapped to a table that tilts them from lying to standing while monitoring heart rate and blood pressure changes. This test is rarely used to diagnose POTS and has been replaced with The NASA lean test and MALMO POTS assessment
Villefranche Criteria	An older classification system from the 1950’s  for diagnosing Ehlers-Danlos Syndrome (EDS) subtypes, including hypermobile EDS (hEDS). It has since been updated by the 2017 hEDS Diagnostic Criteria.

Conditions and disorders that may be associated with HSD, hEDS and EDS

This section highlights a wide range of medical conditions and syndromes that are commonly seen in individuals with HSD, hEDS, and other connective tissue disorders.

Avoidant/restrictive food intake disorder (ARFID)	ARFID is a serious eating disorder where people avoid or struggle with eating, but not because of concerns about body image. Instead, the restriction comes from things like pain with eating anxiety or fear around food and eating, strong sensory sensitivities to things like texture, taste, or smell, or simply a low appetite that leads to little interest in food.
Aortic Aneurysm & Dissection	A life-threatening condition where the walls of the aorta weaken and bulge (aneurysm) or tear (dissection), leading to internal bleeding and requiring urgent medical attention.
Attention Deficit Hyperactivity Disorder (ADHD)	A neurodevelopmental disorder affecting focus, impulse control, and executive functioning, often found in people with hypermobility.
Autism Spectrum Disorder (ASD)	A neurodevelopmental variation in how a person experiences and responds to the world, often affecting communication, social interaction, and sensory processing. Autism is part of natural human diversity and is not a disorder to be “fixed.” It is more common in people with hypermobility, such as those with Hypermobile Ehlers-Danlos Syndrome (hEDS) or Hypermobility Spectrum Disorder (HSD).
Benign Joint Hypermobility Syndrome (BJHS)	A condition involving joint hypermobility  without the systemic features of Hypermobile Spectrum Disorder or hypermobile Ehlers-Danlos Syndrome (hEDS).
Brittle Bone Disease	Another name for Osteogenesis Imperfecta (OI), characterised by fragile bones due to defective collagen formation.
Craniocervical Instability (CCI)	Excessive movement in the junction between the skull and spine, often leading to neurological symptoms, ANS symptoms and headaches.
Cervical Medullary Syndrome	A rare neurological condition affecting the upper spinal cord and brainstem, often leading to dizziness, weakness, numbness, coordination or balance issues and difficulty with speech or swallowing.
Chiari Malformation Type 1	A structural defect where brain tissue extends into the spinal canal, potentially causing headaches, dizziness, and balance problems.
Chronic Fatigue Syndrome (ME/CFS)	A complex disorder causing extreme fatigue that does not improve with rest, often accompanied by pain, brain fog, and autonomic dysfunction.
Complex Regional Pain Syndrome (CRPS)	A chronic nerve pain condition, often triggered by injury or surgery, causing severe burning pain, swelling, and sensitivity.
Dumping Syndrome	A condition that happens when food moves too quickly from the stomach into the small intestine, often related to connective tissue disorders, dysautonomia or after surgery affecting the stomach, like gastric bypass. It can also occur in people with certain digestive disorders. Symptoms usually happen within 10 to 30 minutes after eating (early dumping) or 1 to 3 hours later (late dumping). Early Dumping Syndrome (due to rapid stomach emptying and fluid shifts into the intestine): Late Dumping Syndrome (caused by a sudden drop in blood sugar after eating high-carb foods).
Empty Sella Syndrome	A disorder where the pituitary gland is compressed or shrinks within the skull, potentially causing hormonal imbalances.
Endometriosis	A painful condition where tissue similar to the uterine lining grows outside the uterus, causing pain, heavy periods, and sometimes infertility.
Eosinophilic Esophagitis (EoE)	A chronic immune condition where white blood cells (eosinophils) accumulate in the oesophagus, leading to swallowing difficulties, reflux, and food intolerances.
Fibromyalgia	A chronic pain condition characterised by widespread muscle pain, fatigue, sleep disturbances, and cognitive difficulties (brain fog).
Gastroesophageal Reflux Disease (GERD)	A chronic condition where stomach acid flows back into the oesophagus, causing heartburn and discomfort.
Gastrointestinal Dysmotility	Impaired movement of the digestive tract, causing slow digestion, bloating, constipation, and difficulty swallowing.
Gastroparesis	Delayed stomach emptying that leads to nausea, bloating, pain early fullness, and difficulty digesting food.
Irritable Bowel Syndrome (IBS)	A functional gut disorder that causes bloating, diarrhea, constipation, and abdominal pain.
Intracranial Hypotension	A condition where low cerebrospinal fluid pressure leads to severe headaches, especially when upright, along with dizziness and nausea.
Interstitial Cystitis (Bladder Pain Syndrome)	A chronic bladder condition causing pain, urgency, and frequent urination, often with no clear infection present.
Irritable Bowel Syndrome (IBS)	A functional gut disorder that causes bloating, diarrhea, constipation, and abdominal pain.
Loeys-Dietz Syndrome	A genetic connective tissue disorder similar to Marfan Syndrome but with distinct vascular features, including a higher risk of aneurysms and arterial tortuosity.
Marfan Syndrome		A genetic connective tissue disorder that affects the heart, eyes, blood vessels, and skeleton. People with Marfan Syndrome are often tall with long limbs and may have aortic aneurysms requiring monitoring.
Mast Cell Activation Syndrome (MCAS)		A condition where mast cells—part of the immune system—release chemicals inappropriately and too often (histamine being one of the main chemicals involved). This chemical release causes a wide range of symptoms. These can include allergic-type reactions like flushing, itching, hives, digestive issues, fatigue, brain fog, and more. Unlike a classic allergy, the triggers can vary and are not always easy to identify. MCAS is often chronic and can significantly affect quality of life.
Multiple Chemical Sensitivity (MCS)		A disorder in which individuals experience symptoms such as headaches, fatigue, and breathing difficulties when exposed to certain chemicals or fragrances.
Myalgia (Muscle Pain)		Generalised muscle pain that may be caused by overuse, poor muscle support, or nervous system dysfunction.
Obsessive-Compulsive Disorder (OCD)		A mental health condition characterised by persistent, intrusive thoughts (obsessions) and repetitive behaviors (compulsions) used to reduce anxiety.
Osteogenesis Imperfecta (OI)		A genetic disorder also known as Brittle Bone Disease, causing fragile bones that break easily, joint hypermobility, and dental abnormalities.
Pelvic Floor Dysfunction		A condition where the muscles that support the pelvic organs become too tight or weak, over guarded, or oversensitive causing pain with urination and or sex, incontinence, or difficulty with bowel movements.
Peripheral Neuropathy		A disorder where the nerves outside the brain and spinal cord are damaged, causing weakness, numbness, and pain, often in the hands and feet.
Raynaud’s Phenomenon		A condition causing reduced blood flow to fingers and toes in response to cold or stress, leading to numbness, pain, and colour changes in the skin.
Sensory Processing Disorder (SPD)		A condition where the brain struggles to process sensory input correctly, leading to heightened or reduced sensitivity to touch, sound, or light.
Sleep Apnoea		A sleep disorder where breathing repeatedly stops and starts during sleep, often linked to fatigue, snoring, and daytime drowsiness.
Small Fibre Neuropathy		A nerve disorder that damages small nerve fibres, leading to burning pain, numbness, tingling, and autonomic dysfunction.
Stickler Syndrome		A genetic disorder affecting collagen production, leading to joint hypermobility, hearing loss, cleft palate, and severe near-sightedness (myopia).
Temporomandibular Joint Disorder (TMJ / TMD)		Jaw dysfunction causing pain, clicking, or difficulty opening and closing the mouth.
Tethered Cord Syndrome (TCS)		A neurological condition where the spinal cord is abnormally attached, restricting movement and causing pain, weakness, and bladder issues.
Vulvodynia		Chronic pain in the vulva (external female genital area) without an obvious cause, often linked to nerve dysfunction or pelvic floor issues and seen in connective tissue disorders

Treatment & management approaches

This section presents current therapeutic approaches, interventions, and health professionals involved in the management of Hypermobility, HSD, hEDS, EDS and associated conditions.

General treatment approaches

The following are commonly used treatment strategies and supportive therapies for addressing the multisystemic impacts of hypermobility and related disorders.

Antihistamines for MCAS (Mast Cell activation disorder)	Medications that block histamine to manage allergic-like reactions. There are four types of antihistamines used to treat differing histamine receptors in the body- H1 antihistamines work on the smooth muscle, the skin, and the central nervous system (CNS). H2 antihistamines target the H2 receptors found in the stomach lining and are used to reduce gastric acid secretion, aiding in the treatment of conditions like gastroesophageal reflux disease (GERD), MASC gut related symptoms and peptic ulcers. H3 antihistamines – H3 antagonists are still being studied, primarily for their potential use in neurological conditions such as cognitive disorders, sleep disorders, and neurodegenerative diseases, and H4 antihistamines are still in the research phase, with potential applications in treating allergic diseases and inflammatory conditions.
Autonomic Rehabilitation	Refers to a therapeutic approach aimed at helping people improve the function of their autonomic nervous system (ANS). Strategies such as pacing, recumbent exercise, hydration, and salt loading, compression wear, vagal nerve stimulation and medication adjustments to help manage dysautonomia and POTS. Many of these therapeutic strategies are still being researched.
Bracing & Orthotics	Supportive devices, such as joint splints and shoe orthotics, to improve joint stability and alignment.
Cognitive Behavioural Therapy (CBT)	A psychological therapy that together with other tools and therapies helps manage anxiety, chronic pain, and mental health conditions.
Compression Garments	Specially designed clothing that helps support circulation and reduce blood pooling in POTS and dysautonomia.
Dietary Modifications	Nutrition-based interventions, such as low histamine, low FODMAP, or gluten-free diets, tailored to gastrointestinal or mast cell-related symptoms.
Hormone Therapy & Endocrinology Support	Specialist-led management for hormonal imbalances, which may be linked to connective tissue disorders.
IV Fluids for POTS	Intravenous hydration therapy to improve blood volume and circulation.
Joint Protection Strategies	Techniques to reduce strain on joints, including bracing, taping, and movement modification.
Low-Dose Naltrexone (LDN)	A medication sometimes used off-label to manage chronic pain and inflammation.
Manual Therapy Techniques	Hands-on therapies such as myofascial release, craniosacral therapy, and osteopathy to improve mobility and relieve tension.
Mast Cell Stabilisers	Medications that help regulate the release of inflammatory chemicals from mast cells.
Medical Cannabis for Chronic Pain	Used in some cases to help manage pain and inflammation.
Multidisciplinary Care	A team-based approach involving multiple specialists to address the various symptoms and systems affected by hypermobility and related conditions.
Pain Management Strategies	A combination of physiotherapy, lifestyle changes, medications, and complementary therapies to manage chronic pain.
Physiotherapy & Exercise Therapy	Tailored physical rehabilitation to improve strength, stability, and mobility while preventing injury.
Postural & Mobility Aids	Assistive devices like wheelchairs, canes, walkers, and posture garments and supports for individuals with mobility impairments.
POTS medications-Betablockers and Vasopressors	Beta blockers are medications that are sometimes used to help manage symptoms of POTS (Postural Orthostatic Tachycardia Syndrome), especially when the main issue is a high heart rate upon standing, they work by blocking adrenaline’s effects, which slows down the heart rate and can make it easier for people with POTS to tolerate standing or being upright. Vasopressors cause blood vessels to tighten (vasoconstrict), which raises blood pressure. It works by constricting blood vessels, which helps increase blood pressure and improve blood flow to vital organs.
Psychological Support & Mental Health Care	Counselling, therapy, and support groups for individuals managing chronic illness and associated mental health challenges.

Medical Practitioners & Specialists

This list includes the core medical specialists who may play a role in diagnosing, managing, or supporting individuals living with HSD, hEDS, and related conditions.

This list is not exhaustive.

Cardiologist	A specialist that monitors and treats heart and vascular issues such as POTS, aortic dilation, and arrhythmias.
Dermatologist	A specialist that manages skin-related issues such as fragility, delayed wound healing, and easy bruising.
Endocrinologist	A specialist that treats hormonal imbalances and metabolic disorders that may impact connective tissue function.
Gastroenterologist	A specialist that manages gut-related symptoms like IBS, gastroparesis, and food intolerances.
General Practitioner (GP)	A general practitioner is usually the first point of contact for diagnosis, referrals, and ongoing management. They are able to diagnose HSD and hEDS.
General Physician	A General Physician is a specialist doctor (not to be confused with a General Practitioner or GP) who has completed advanced training in adult internal medicine. They diagnose and manage complex, chronic, or multi-system conditions — often involving more than one organ or body system. General physicians focus on overall health, manage chronic illnesses, and coordinate care with other specialists if needed. They do not perform surgery but play a key role in long-term, whole-person healthcare.
Geneticist	Evaluates family history and genetic markers for hereditary connective tissue disorders.
Haematologist	Assesses blood-related conditions, including clotting disorders and issues related to MCAS.
Immunologist	Specialises in allergic responses, MCAS, and immune system dysfunctions.
Neurologist	Assesses nervous system involvement, including autonomic dysfunction (POTS, dysautonomia) and neuropathies.
Neurosurgeon	A specialist doctor who diagnoses and performs surgery on conditions that affect the brain, spine and the nervous system. Neurosurgeons treat conditons like brain injuries, Chiari malformation, tethered cord syndrome, and craniocervical instability if surgical intervention is required.
Ophthalmologist	A medical doctor who specialises in eye and vision care. Ophthalmologists are trained to diagnose and treat eye conditions, prescribe glasses, or contact lenses, and perform eye surgery if needed.
Orthopaedic Surgeon	Specialises in surgical intervention for severe bone, muscle, and joint issues, this may include joint instability or scoliosis.
Paediatrician	Specialist in children’s health, often involved in diagnosing and managing hypermobility-related conditions in young patients.
Pain Specialist	A specialist who focuses on diagnosing and treating chronic pain and improving function and quality of life. Provides advice on multidisciplinary pain management, including referral to psychologists/psychiatrists, nerve blocks, medications, and lifestyle interventions.
Prolotherapist	A prolotherapist is a specially trained doctor who performs prolotherapy, a treatment that involves injecting a natural solution (often containing dextrose) into joints, ligaments, or tendons. The goal is to stimulate the body’s natural healing response, strengthen weakened connective tissue, and reduce pain — especially in cases of joint instability or chronic musculoskeletal conditions. Prolotherapy is commonly used for issues like hypermobility, tendon injuries, or osteoarthritis.
Rehabilitation Specialist	A healthcare professional who helps people recover and improve their physical, mental, or cognitive abilities after injury, illness, or surgery. They work with individuals to build strength, regain function, manage pain, and improve quality of life- often as part of a team that may include physiotherapists, occupational therapists, EP’s, psychologists, and other specialists.
Rheumatologist	Diagnoses and manages connective tissue disorders, arthritis, and chronic pain conditions.
Sleep Specialist	Diagnoses and treats conditions like sleep apnea and sleep disturbances common in chronic illness.

Allied Health Professionals

These allied health professionals contribute essential expertise in rehabilitation, function, daily living, and symptom management for individuals with hypermobility-related disorders.

This list is not exhaustive.

Dietitian/Nutritionist	Provides guidance on dietary modifications for gut health, MCAS, and overall nutrition.
Exercise Physiologist	Designs tailored exercise programs for strength and endurance while avoiding injury.
Occupational Therapist (OT)	Assists with daily activities, recommends adaptive tools, and suggests lifestyle modifications.
Osteopath	A healthcare practitioner who focuses on the whole body- not just the site of symptoms -to treat and prevent health issues. They use hands-on techniques like stretching, gentle pressure, and joint manipulation (called osteopathic manual therapy) to improve movement, reduce pain, and support the body’s natural healing processes. In Australia, osteopaths are university-trained, registered professionals who commonly help with musculoskeletal issues like back pain, joint problems, posture, and tension.
Physiotherapist	A healthcare professional who helps people restore function, movement and manage pain through physical methods, such as exercise, manual therapy, and other techniques. They assess and treat a wide range of conditions, including injuries, muscle or joint problems, and mobility issues. Physiotherapists work with patients to improve strength, flexibility, posture, and overall physical function, often helping people recover from surgery or injury and manage chronic conditions.
Podiatrist	Focuses on foot and lower limb function, providing orthotics and management strategies for foot-related hypermobility issues.
Speech Pathologist	Supports individuals with swallowing difficulties and speech-related issues common in some connective tissue disorders.
Psychologist	A professional trained to understand and treat mental, emotional, and behavioural issues. They use various therapeutic methods, such as talk therapy and counselling, to help individuals cope with challenges like stress, anxiety, depression, and trauma. Psychologists assess behaviour, thoughts, and emotions to provide support and strategies for improving mental health and overall well-being. They do not prescribe medication but may collaborate with other healthcare professionals for a holistic approach to treatment.

Concepts & advocacy

This section explores important ideas, advocacy terms, and social concepts that help contextualise the lived experience of people with Hypermobility, HSD, hEDS, EDS and associated conditions.

Chronic Illness Support	Resources, community networks, and healthcare approaches that help individuals manage long-term health conditions.
Diagnostic Delay	The prolonged time it takes for a patient to receive an accurate diagnosis due to medical complexity, lack of awareness, or systemic barriers.
Disability Advocacy	Efforts to improve accessibility, rights, and accommodations for individuals with disabilities, including those with hypermobility and related conditions.
Evidence-Based Practice	Medical and healthcare approaches that are supported by scientific research and proven effectiveness.
Holistic Care Models	A treatment approach that considers the physical, mental, and social aspects of health rather than focusing on symptoms in isolation.
Intersection of Genetics & Environment	The recognition that both genetic factors and environmental influences contribute to the development and progression of conditions like EDS, HSD, and POTS.
Invisible Illness	A term used for chronic conditions that may not have visible symptoms but still significantly impact daily life and functioning.
Medical Gaslighting	When a patient’s symptoms or concerns are dismissed or minimised by healthcare providers, leading to delays in diagnosis and treatment.
Patient Advocacy	The effort to support, educate, and empower patients to access appropriate care and treatment for their conditions.
Patient-Led Research	Research initiatives driven by individuals with lived experience of a condition, helping shape medical understanding and treatment priorities.
Spoon Theory	A metaphor used to explain the limited energy levels of individuals with chronic illness, illustrating how daily activities require careful energy management.