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Ehlers-Danlos Syndrome (EDS): Understanding Symptoms, Subtypes, HSD, and Autonomic Dysfunction

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Click Here to Download this Blog Post –  Ehlers-Danlos Syndrome (EDS) Prelude – Part 2

By Dr. Nicholas L. DePace, M..D., F.A.C.C – Cardiologist specializing in autonomic dysfunction, Ehlers-Danlos syndrome and POTS.

Overview of Ehlers-Danlos Syndromes (EDS)

Ehlers-Danlos Syndromes (EDS) are a group of 13 heritable connective tissue disorders, which means that you can get it from your parents.

The conditions are caused by genetic changes that affect connective tissue, which is tissue that connects, supports, binds, or separates other tissues or organs. Each type of EDS has its own set of features to identify it.

Core Features Seen Across All EDS Types

Some features are seen across all types of EDS, including joint hypermobility, when joints move beyond their normal range, often due to loose ligaments; skin hyperextensibility, a condition where the skin can be stretched beyond its normal limits because of a problem with the body’s collagen and elastin proteins; and tissue fragility, excessive weakness and susceptibility of tissues to tearing, bruising, and injury.

Hypermobility Spectrum Disorders (HSD)

Patients not meeting strict criteria for EDS may have hypermobility spectrum disorders (HSD) which are connective tissue disorders that cause joint hypermobility, instability, injury and pain.

Additional Symptoms and Related Conditions

Other disorders such as fatigue, a feeling of weariness, tiredness, or lack of energy that can interfere with daily life; headaches, GI problems, a wide range of conditions affecting the digestive tract, with symptoms like abdominal pain, bloating, heartburn, nausea, and changes in bowel habits; and autonomic dysfunctions, a condition where the autonomic nervous system, which controls automatic bodily functions like heart rate, blood pressure, and digestion, doesn’t work properly are often seen as part of EDS/HSD [Ehlers Danlos Society].

Understanding Autonomic Dysfunction in EDS/HSD

Symptoms of EDS and hypermobility may be traced to the parasympathetic, a division of the autonomic nervous system that promotes “rest and digest” functions, counteracting the “fight or flight” response of the sympathetic nervous system; and sympathetic nervous system, a part of the autonomic nervous system that triggers the body’s “fight-or-flight” response to stress or danger; or oxidative stress, an imbalance between the production of free radicals and the body’s ability to detoxify them through antioxidants, leading to cellular damage; and all are treatable.

Clinical Approach to EDS & HSD

As a practicing Clinical Internist, I am always prepared to diagnose a patient with numerous “somatic complaints”, physical symptoms, like pain, fatigue, or dizziness, that cause significant distress or interfere with daily life, with a syndrome rather than to attribute them as psychosomatic, physical symptoms caused by mental factors like stress, anxiety, or emotional disturbance, which is always easier to do and which the majority of physicians prior to a patient’s visit with me have done. Such applies to patients who present with undiagnosed Ehlers-Danlos Syndrome (EDS) or Hypermobility Spectrum Disorder (HSD).

Why Expert Evaluation Matters

It is important to seek out a clinician with expertise in EDS to make an accurate diagnosis and create a treatment plan. One of the nation’s leading centers is Franklin Cardiovascular Associates, under the direction of Nicholas DePace, MD, FACC. They are located in Sicklerville, New Jersey. franklincardiovascular.com, (856) 589-6034

About the Author

Nicholas L. DePace, MD, FACC is a board-certified cardiologist and Medical Director of Franklin Cardiovascular Associates. A graduate of the Mount Sinai School of Medicine, Dr. DePace has decades of clinical, academic, and research experience and has held faculty appointments as a Clinical Professor of Medicine, becoming one of the youngest full professors in Philadelphia at the time of his appointment.

Dr. DePace specializes in the diagnosis and treatment of autonomic nervous system dysfunction (dysautonomia), including POTS, autonomic dysfunction associated with Ehlers-Danlos syndrome (EDS), chronic fatigue, and anxiety-like conditions that are frequently misdiagnosed. He is nationally recognized for his work on parasympathetic and sympathetic (P&S) nervous system imbalance, a core mechanism underlying many complex chronic disorders.

In addition to treating patients from across the United States, Dr. DePace is a prolific clinical researcher and author of multiple nationally distributed medical textbooks published by Springer and W.W. Norton, focusing on autonomic dysfunction, mitochondrial disorders, cardiovascular disease, and mind–body medicine.

👉 View Dr. DePace’s professional profile
👉 View medical books by Dr. DePace

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Ehlers-Danlos Syndrome (EDS) Explained: What It Is, Early Signs, Risks, and When to Seek Help

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Click Here to Download this Blog Post –  Ehlers-Danlos Syndrome (EDS)- Part 1 – Introduction, What is it?

By Dr. Nicholas L. DePace, M..D., F.A.C.C – Cardiologist specializing in autonomic dysfunction, Ehlers-Danlos syndrome and POTS.

Ehlers-Danlos Syndrome (EDS), what is it?

Ehlers-Danlos Syndrome(EDS) comprises a group of more than 10 different inherited, clinically, and genetically diverse in character, disorders, resulting from genetic defects in collagen, a group of fibers proteins involved with connective-tissue synthesis and structure.

The different variants of EDS due to biochemical and genetic differences is what creates the clinical differences. Many individuals do not fit into a single type  and overlap is common. Symptoms can include highly flexible, loose joints, joint pain, fragile and redundant skin with a velvety texture, and abnormal scar formation which can be seen at birth or in early childhood.

Common Symptoms of Ehlers-Danlos Syndrome (EDS)

Symptoms can include:

  • Highly flexible, loose joints

  • Joint pain

  • Fragile and redundant skin with a velvety texture

  • Abnormal scar formation

  • Findings that may be present at birth or early childhood

Rare but Serious Complications of EDS

The most common forms of EDS are not life threatening or dangerous. There are some rare types that can be. Some manifestations that are only seen in this rare types of EDS include:

Aortic dissection

Aortic dissection, which is a medical emergency in which a tear happens in the inner layer of the body’s main artery, the aorta, can occur. Blood rushes through the tear causing the middle layers of the artery to split. This is called a dissection. If the blood goes outside the artery, it can be deadly.

Scoliosis

Scoliosis, where the spine can curve to either side, can change a person’s posture. The shoulders aren’t even and can even affect breathing movement.

Brittle Cornea

Brittle cornea is a rare but significant variant of EDS, which predisposes people to corneal ruptures and possible blindness.

Blue Sclerae

Blue sclerae is when the white of the eye appears blue, great or even purple. The condition is usually painless and is due to thinning of the connective tissue proteins letting the blood vessels underneath show through. In itself, the condition is not dangerous, but means there is a significant underlying medical condition that will need treatment.

Muscle Wasting & Hypotonia

Muscles waste away.  Hypotonia is a state of reduced muscle strength.

Postural Hypotension (Orthostatic Hypotension)

Postural hypotension is when the blood pressure drops on changing to an upright position, also call Orthostatic Hypotension. It can cause dizziness or lightheadedness and possibly fainting.

Cardiac Valvular Abnormalities

Cardiac valvular abnormalities are conditions that can cause one or more heart valves to leak blood backward into the heart chambers or fail to open fully. Your doctor may hear a “whooshing” noise or an extra click with a stethoscope. Some people have no symptoms, but poorly functioning heart valves can cause chest pain, difficulty breathing, tiredness, weakness, feeling irregular heartbeats, lightheadedness, fainting and swollen ankles, feet or belly.

Chronic Pain

Chronic pain can also affect those afflicted by EDS.

Where to Get Expert EDS Evaluation

It is important to seek out a clinician with expertise in EDS to make an accurate diagnosis and create a treatment plan. One of the nation’s leading centers on Ehlers-Danlos treatment is Franklin Cardiovascular Associates, under the direction of Nicholas DePace, MD, FACC. They are located in Sicklerville, New Jersey. franklincardiovascular.com, (856) 589-6034

About the Author

Nicholas L. DePace, MD, FACC is a board-certified cardiologist and Medical Director of Franklin Cardiovascular Associates. A graduate of the Mount Sinai School of Medicine, Dr. DePace has decades of clinical, academic, and research experience and has held faculty appointments as a Clinical Professor of Medicine, becoming one of the youngest full professors in Philadelphia at the time of his appointment.

Dr. DePace specializes in the diagnosis and treatment of autonomic nervous system dysfunction (dysautonomia), including POTS, autonomic dysfunction associated with Ehlers-Danlos syndrome (EDS), chronic fatigue, and anxiety-like conditions that are frequently misdiagnosed. He is nationally recognized for his work on parasympathetic and sympathetic (P&S) nervous system imbalance, a core mechanism underlying many complex chronic disorders.

In addition to treating patients from across the United States, Dr. DePace is a prolific clinical researcher and author of multiple nationally distributed medical textbooks published by Springer and W.W. Norton, focusing on autonomic dysfunction, mitochondrial disorders, cardiovascular disease, and mind–body medicine.

👉 View Dr. DePace’s professional profile
👉 View medical books by Dr. DePace

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Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome (EDS) and Autonomic Dysfunction

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By Dr. Nicholas L. DePace, M..D., F.A.C.C – Cardiologist specializing in autonomic dysfunction, Ehlers-Danlos syndrome and POTS.

Autonomic Nervous System Dysfunction in Ehlers-Danlos Syndrome

by Nicholas DePace MD, FACC, and Michael Edward Goldis DO, FACOI, MS, BS in Pharm

The autonomic nervous system (ANS) runs all background bodily functions that do not require a conscious thought process. Major consequences of autonomic dysfunction include abnormal and inappropriate blood volume and flow distribution to the body with gravitational pooling and difficulty returning blood to the heart.

Direct nerve dysfunction can affect pupil size and abnormal motility of the gastrointestinal (GI) tract, compensations which are adaptive mechanisms in the body’s attempt to compensate for autonomic dysfunction, which can cause adverse symptoms. There are 2 components: (1) the sympathetic nervous system, which releases predominantly norepinephrine and is the “accelerator” of the body; (2) the parasympathetic nervous system releases acetylcholine which is the “break” of the body.

The vagus nerve is the main component of the parasympathetic nervous system and is the longest nerve in the body. Because of its long distribution and size, it is susceptible to injury.

Impairment of blood flow to the brain, which is poor perfusion, leads to lightheadedness, tunnel vision, blackout vision, change in hearing, perception, complete loss of consciousness, syncope, presyncope, the need to lie down, giddiness, word-finding difficulties, and short term memory loss.

These occur in the standing position almost always or occasionally sitting, but not lying. These symptoms are known as orthostatic intolerance. Mental cloudiness and brain fog are described.

Lack of perfusion to the brain may precipitate migraines. Light intolerance, photophobia, bothersome sensation to loud noises, anxiety, insomnia, and depression may or may not reflect poor cerebral perfusion.

Ehlers Danlos Syndrome is often associated with GI motility and may be associated with mast cell activation. What the mast cells do is release histamine inflammatory mediators. This accounts for the overlapping features not EDS like abdominal pain and poor GI motility with foggy thinking.

There is an article in the New England Journal of Medicine that feels irritable bowel syndrome (IBS) is the result of a histamine abnormality. What the actual cause is controversial.

While some physicians believe there’s a component of autoimmunity, we believe there is an abnormal connective tissue in the veins precipitating the venous pooling phenomenon, there is poor cerebral perfusion, and Sympathetic overdrive leading to dysautonomia.

There may also be an anatomical component to the autonomic dysfunction when you consider the vagus nerve is a parasympathetic nerve and the most prominent and longest in the parasympathetic nervous system.

It is the 10th cranial nerve and arises from the brain stem located auth the junction between the cranium and the first cervical vertebrae, which is also at the base of the cerebellum.

Any craniocervical instability in this region or compression of the vagus nerve could potentially have profound effects on vagus nerve function. Craniocervical instability is common in EDS and needs flexion and extension radiographic images and proper measurements to clearly characterize it.

The vagus nerve exits from this location along with the ninth cranial nerve, the glossopharyngeal nerve, and the eleventh cranial nerve which is known as the spinal accessory nerve.

The vagus nerve then branches throughout most of the body. The vagus is both afferent sensory and efferent motor. This sensory fiber for the vagus takes information from the GI tract and runs it back to the brain, while the motor activity directs the bodily functions in many organs.

Some physicians describe the enteric nervous system as an organism “second brain” which can function completely in the absence of central nervous system input. The vagus nerve as well as the parasympathetic nervous system in general uses the neurotransmitter acetylcholine to transmit information from the presynaptic nerve termination to the end organ.

There can be abnormalities from the brain to the ganglia or from the end receptors where acetylcholine is released. There are about 30 neurotransmitters within the enteric nervous system which include more than 90% of the body’s serotonin and 50% of the body’s dopamine.

About the Author

Nicholas L. DePace, MD, FACC is a board-certified cardiologist and Medical Director of Franklin Cardiovascular Associates. A graduate of the Mount Sinai School of Medicine, Dr. DePace has decades of clinical, academic, and research experience and has held faculty appointments as a Clinical Professor of Medicine, becoming one of the youngest full professors in Philadelphia at the time of his appointment.

Dr. DePace specializes in the diagnosis and treatment of autonomic nervous system dysfunction (dysautonomia), including POTS, autonomic dysfunction associated with Ehlers-Danlos syndrome (EDS), chronic fatigue, and anxiety-like conditions that are frequently misdiagnosed. He is nationally recognized for his work on parasympathetic and sympathetic (P&S) nervous system imbalance, a core mechanism underlying many complex chronic disorders.

In addition to treating patients from across the United States, Dr. DePace is a prolific clinical researcher and author of multiple nationally distributed medical textbooks published by Springer and W.W. Norton, focusing on autonomic dysfunction, mitochondrial disorders, cardiovascular disease, and mind–body medicine.

👉 View Dr. DePace’s professional profile
👉 View medical books by Dr. DePace

 

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Autonomic Nervous System and EDS (Ehlers-Danlos Syndrome)

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Dr. DePace, MD, FACC

49% of hypermobile EDS (Ehlers-Danlos Syndrome) patients have POTS (postural orthostatic tachycardia syndrome), 31% orthostatic intolerance and 20% have normal hemodynamics. We call this orthostatic intolerance and postural orthostatic intolerance  in joint hypermobility syndrome / Ehlers-Danlos  hypermobility type, neurovegetative dysregulation or autonomic failure. The autonomic dysregulation is moderate to severe in one-third of our hypermobile EDS patients.

Coat-hanger pain is common in orthostatic intolerance associated with EDS. Coat-hanger syndrome consists of pain at the back of the neck (paracervical) and base of the head (suboccipital) that worsens in the upright position. It is believed to be due to poor blood flow to the muscles of the upper back and neck. It is due to pooling of blood due to abnormal sympathetic nervous system response due to standing and abnormal vasoconstriction. Coat-hanger pain can be quite profound, especially in conjunction with all the other chronic pain seen in EDS patients due to joint hypermobility.

Orthostatic headaches are also seen in EDS due to blood vessel malformation called Chiari malformation, CSF (cerebral spinal fluid) flow issues and CSF leaks. This may collagen problems, leading to stretchy blood vessels in EDS leading to venous pooling. This hypothesis has not been proven; however it makes empiric sense.

Autonomic dysfunction has often been attributed to autoimmunity and many times autoimmune antibodies are not detected, and many believe that this is because they have not been discovered as of yet. Diseases like rheumatoid arthritis, lupus and Sjogren’s disease have been seen with EDS. Nearly 10% had Raynaud’s, which is often associated with autoimmune disorders. It is kissable that abnormalities in the extracellular matrix might contribute to development of autoimmunity in the presence of other genetic or environmental influences.

The most common autoimmune diseases associated with EDS and POTS are Hashimoto’s, Sjogren’s, lupus and celiac disease. However, POTS is not the only dysautonomia disorder that is seen in EDS patients.

Mast cell activation syndrome is often seen in patients who have autonomic dysfunction including POTS and EDS. POTS and mast cell activation syndrome may frequently overlap. POTS patients with EDS tend to report dealing with POTS-like symptoms for most of their life. GI (gastrointestinal) are reported significantly more often by patients with EDS. Sensory neuropathic symptoms have been reported significantly more often in patients with EDS with POTS, including skin burning, hand tingling, hand burning, hand numbness and cold hands. The neuropathy noted in EDS patients suggests that the collagen in and around the nerve fibers may be damaged or abnormal.

Small fiber neuropathy in hypermobile EDS patients likely cause the burning sensations, hypesthesia and allodynia. Small fiber neuropathy refers to dysfunction or damage to the A-Delta and C fibers which relay thermal and nociceptive or unpleasant information as well as mediating autonomic function. There is strong evidence for a peripheral neuropathic contribution to the pain syndrome in hypermobile disorders in addition to the known nociceptive and central sensitization components. This raises the question if there is a neurological cause of hypermobile EDS; the only EDS syndrome without a known genetic cause. Physicians should assess for small fiber pathology in hypermobile EDS patients and hypermobility spectrum disorder patients for sensory and autonomic impact. EDS patients show an overactivity of the resting parasympathetic nerve tone and a decreased sympathetic nerve reactivity to stimuli.

 

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DePace Books Heart Repair Manual, Clinical and Mitochondrial Disorders

Autonomic Nervous System Dysfunction in Ehlers Danlos Syndrome

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Dr. DePace, MD, FACC

Articulo-autonomic dysplasia is a unifying pathogenic mechanism in Ehlers-Danlos Syndrome (EDS) and related conditions in the clinical pattern termed arthritis-adrenalin disorder.

Increased neuromuscular symptoms in females may be related to surrounding muscle support and joint connective tissue in males, leading to decreased male severity.

The similar clinical profiles of joint, skeletal, and dysautonomia, regardless of age our EDS diagnosis suggests the operation of an articulo-autonomic dysplasia (AAD) cycle, where lax vessels and lower body pooling elicit a sympathetic response and autonomic imbalance, which in turn affect small nerve fibers and enhance connective tissue laxity.

The findings of AAD are more frequent in females but are paralleled by men.

These include undergoing back surgery, slow healing, bladder issues, hernias, valve regurgitation, gallbladder issues, hives and reactive skin, food and medicine intolerance, and hypothyroidism.

The greater flexibility and fragility of connective tissue in women is conveyed by measures ranging from the historical performance of hypermobility tricks to the physical performance of Beighton maneuvers.

Neuromuscular and dysautonomia symptoms more frequent in women include migraines, muscle aches, weakness, and atrophy, physically highlighting greater muscular development and support in men as a key factor in their reduced severity.

The role of surrounding muscle for joint connective tissue constraint and protection correlates with the benefits of physical therapy and exercise for the treatment of EDS.

Problems can include popping joints that may manifest as subluxations, polyarticular and symmetrical joint pain of knees, shoulders, and ankles with rare swelling and erythema, joint injuries in mostly ankles and knees, fractures most frequently in distal limbs, and disk degeneration or herniation.

Clumsiness from joint laxity, cumulative joint pain injury, and skeletal deformations like scoliosis, toeing in or out, and flat or high arches make the typical patient uncomfortable with sports and prone to inactivity.

Evidence of skin fragility is another hallmark of EDS with easy bruising, unusual scars, and early striae.

Most unnoticed unless questioned or documented is soft or elastic skin which can be pulled in 1-inch folds from their jaw liner mid-forearm on physical examination.

The common findings of migraines and daily headaches which may arise from blood vessel abnormalities like Chiari formation of crania-cervical stability leading to numbness, tingling and muscle aches can prompt fibromyalgia diagnosis.

Seizures may actually reflect syncope more than epilepsy and may be related to poor balance.

Bloating, stomach pain and nausea begin early in life and continue later with gall bladder dysfunction and are accentuated by mast cell activation disease that presents as eosinophilic esophagitis with frequent food intolerances.

It is common to misdiagnose the anxiety and tachycardia associated with Postural tachycardia syndrome (POTS) as a functional disease.

The bowel disorders and overlapping joint and autonomic symptoms seen in EDS often are confused with Crohn’s and Celiac disease with the various associated psychological aspects.

Genomic and immunological studies can help determine if the overlapping joint and autonomic symptoms have separate causes. It is also important to make sure there is not a vitamin D deficiency or hypothyroidism that can present as Hashimoto’s thyroiditis.

In addition to chronic fatigue, anxiety-tachycardia and POTS, we see brain fog – poor focus, and sleep disturbances.

This can be disabling and much more severe in females with the occasional extremely affected male and together with bowel issues, weight loss, hives and reactive skin, and reactive airway disease – shortness of breath.

Mild valvular regurgitation, mostly mitral prolapse in both sexes.

Findings related to Marfanoid habits include an angular build, arm span greater than height, and long fingers with consequent maneuvers like making the prayer sign behind the back. Deformations like neck kyphosis, scoliosis, and lordosis are much more frequent in females except for pectus and toeing-in mainly or out, a likely contributor to clumsiness.

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