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Ehlers Danlos Syndrome

Ehlers-Danlos Syndrome (EDS) Hypermobility Diagnosis and Treatment (Part 3)

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Dr. Nicholas L. DePace, M.D., F.A.C.C.

  1. Focus on Symptom Relief

Our clinic treats patients with hypermobility (being “double-jointed” or “bendy”), which mainly fall into two groups:

  • Hypermobility Spectrum Disorder (HSD)
  • Hypermobile Ehlers-Danlos Syndrome (hEDS)

Both are complex and affect the whole body. It’s easy to get lost in the details of diagnosis, but the most important thing to remember is that the treatment for both HSD and hEDS is often identical.

Patients want a diagnosis, but what they need most is a plan to manage their symptoms and feel better.

  1. A 3-Step Approach

Therefore, our clinic’s process is clear:

  1. Safety First: Immediately rule out the one life-threatening type, vascular EDS (vEDS). All other types, like hEDS and HSD, are not life-threatening (they just impact the quality of life).
  2. Get a Diagnosis: After confirming it’s not vEDS, we run tests to accurately diagnose which hypermobility disorder the patient has.
  3. Create a Treatment Plan: We then build a plan focused on relieving the patient’s symptoms, improving their quality of life, and increasing their productivity.

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

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Ehlers-Danlos Syndrome (EDS) Prelude Part 2

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Dr. Nicholas L. DePace, M.D., F.A.C.C.

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. 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. 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. 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]. 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.

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).

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

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Ehlers-Danlos Syndrome (EDS) Explained: What It Is, Early Signs, Risks, and When to Seek Help — Part 1

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

Dr. Nicholas L. DePace, M.D., F.A.C.C.

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

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

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Orthostatic Hypotension Blog 6 of 6

Mechanisms and Rare Causes of Neurogenic Orthostatic Hypotension (Part 6 Of 6)

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Dr. Nicholas L. DePace, M.D., F.A.C.C.

This is Part 6 of a 6 Part Series about Orthostatic-Hypotension

Neurogenic orthostatic hypotension is usually assumed to be due to a problem with subnormal norepinephrine being released from peripheral sympathetic nerves (the post-ganglionic sympathetic neurons).

In many disorders, norepinephrine levels will be low.

When there is subnormal norepinephrine released, there is impaired vasoconstriction reduced intrathoracic volume.

The absence of an appropriate baroreflex increase in heart rate as blood pressure falls is  the presence of neurogenic orthostatic hypotension.

If the heart rate increases excessively, this is usually a sign of dehydration.  However, the presence of an increase in heart rate does not exclude neurogenic orthostatic hypotension.

In vasovagal syncope, or reflex syncope, the opposite occurs, namely the heart rate falls during the so-called reflex syncope, and this can oftentimes be reduplicated with a person on a tilt test.

The neurodegenerative diseases that most often produce significant baroreflex dysfunction are the synucleinopathies.  These will be described in part 2.

One note about orthostatic neuropathy changes.

We already mentioned post-ganglionic autoimmune autonomic ganglionopathy (AAG).

We described metabolic disorders such as diabetes but did mention a vitamin deficiency, such as B12, can cause this also.

Uremia rarely can cause it, that is, renal disease that is advanced.  However, other autoimmune disorders, such as Sjögren’s syndrome and systemic lupus erythematous, can also cause orthostatic hypotension.

Other rare genetic disorders, such as Fabry disease and sodium channelopathies, can also cause orthostatic hypotension.

When we described toxic effects, we often see alcohol and chemotherapeutic agents as causing autonomic neuropathy damage and orthostatic hypotension.

Oftentimes, a muscle weakness is associated with these types of autonomic failure as it is with the infectious types, which can be seen with HIV, Chagas disease, leprosy, and other rare disorders.

A very rare form of autonomic failure associated with muscle weakness is Eaton-Lambert syndrome, myasthenia gravis, and botulism.

 

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Autonomic Failure in Orthostatic Hypotension: Primary, Secondary, and Autoimmune Causes (Part 5 Of 6)

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Dr. Nicholas L. DePace, M.D., F.A.C.C.

This is Part 5 of a 6 Part Series about Orthostatic-Hypotension

Importantly, autonomic failure is often associated with movement disorders, such as Parkinson’s disease and dementia with Lewy bodies disease.

An autoimmune disorder, which can come on quickly or sub-acutely, is an autonomic failure due to autoimmune autonomic ganglionopathy, and one can diagnose this by clinical history, and oftentimes there are autoantibodies present in the blood, for which we can test.

In fact, treatments that reduce the antibody burden can improve this autoimmune disorder and lessen orthostatic drops in blood pressure in these patients.

Primary autonomic failure is a cause of autonomic neuropathy due to a neurodegenerative disorder in the brain and peripheral nerves.

Multiple system atrophy (Shy-Drager syndrome), and pure autonomic failure (Bradbury-Eggleston syndrome), and dementia with Lewy bodies are causes of autonomic neuropathy that often involve the central nervous system and are considered primary autonomic failure.

Secondary autonomic failure can occur, as mentioned, with diabetes, Parkinson’s, amyloid disease, and autoimmune disorders, rarely with Guillain-Barre syndrome, a genetic disorder known as familial dysautonomia (Riley-Day syndrome), hereditary sensory autonomic neuropathies, vitamin deficiencies such as Vitamin B12, toxic neuropathies, drug-induced neuropathy, such as from chemotherapy and infectious neuropathies.

The latter eight are rather uncommon, and normally, with peripheral neuropathies causing secondary autonomic failure, we find diabetes the most common and occasionally find amyloidosis and then Parkinson’s disease.

The primary autonomic failure ones, as mentioned above, however, are more serious and more difficult to treat and often have a very poor long-term prognosis compared to the secondary causes of autonomic failure.

This is true with multiple system atrophy, pure autonomic failure, and dementia with Lewy bodies.

With pure autonomic failure, an individual can go into an accelerated phase and develop more profound central nervous changes consistent with multiple system atrophy.

Initially, pure autonomic failure can behave as a strictly peripheral autonomic abnormality, but with worsening and transitioning stage can go into a central form.

More will be discussed about this later.

This is an extremely difficult disorder to treat.  It is incurable, and results are usually poor in treatment despite aggressive pharmacological and lifestyle attempts.  Multiple system atrophy has a more rapid decline, as does dementia with Lewy bodies.

 

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