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Click Here to Download this Blog Post – Ehlers-Danlos Syndrome (EDS) The Undiagnosed Patient (Part 4)

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

1. Case Summary: The Undiagnosed Patient

   Patient History: Lifelong Symptoms and Unexplained Health Issues

   The Patient’s History A 48-year-old woman visited a doctor due to worsening dizziness, heart palpitations, and “brain fog” when standing up, which intensified after a mild case of COVID-19. She had a lifetime history of unexplained health struggles. Since high school, she suffered from constant exhaustion and body aches (originally blamed on gymnastics). Her symptoms were diverse, including:

   • Joints that would frequently “pop out” or dislocate.
   • Easy bruising and stretch marks not related to weight gain.
   • Digestive issues (constipation) and heavy menstrual cycles.
   • Anxiety, sleep trouble, and migraines.

   The Medical “Odyssey”: Years of Misdiagnosis

   Over her lifetime, she saw more than two dozen specialists. Because her symptoms affected so many different parts of her body, doctors failed to connect them. She was misdiagnosed with anxiety, depression, and fibromyalgia, often being told her pain was psychological rather than physical.

   The Clinical Examination: Signs of Autonomic Dysfunction

   During this visit, the doctor noted that her heart rate spiked significantly when she stood up (a sign of autonomic dysfunction). The doctor also performed a Beighton score test, a standard method for measuring joint hypermobility.

Why Expert Evaluation Matters in EDS Diagnosis

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

Click Here to Download this Blog Post –  Ehlers-Danlos Syndrome (EDS) Hypermobility Diagnosis and Treatment (Part 3)

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

Understanding Hypermobility: HSD vs hEDS

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.

Our 3-Step Approach to Hypermobility Diagnosis & Treatment

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.

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

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

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

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

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