Tag Archives: EDS

Whole family with local anesthetic resistance

Whole-exome sequencing of a family with local anesthetic resistance. – PubMed – 2016 Oct

Local anesthetics (LA) work by blocking sodium conductance through voltage-gated sodium channels.

Complete local anesthetic resistance is infrequent, and the cause is unknown. Genetic variation in sodium channels is a potential mechanism for local anesthetic resistance.

A patient with a history of inadequate loss of sensation following LA administration underwent an ultrasound-guided brachial plexus nerve block with a complete failure of the block. We hypothesized that LA resistance is due to a variant form of voltage-gated sodium channel.   Continue reading

Connective Tissue & the Brain

Connective Tissue & the BrainAugust 19, 2018 · by Emily Casanova

Connective tissue is a fibrous cell-sparse network that helps to connect, support, bind, and separate neighboring tissues from one another.

It exists in and around every organ of the body.

Probably the most recognizable forms of connective tissue are bones (calcified), tendons, ligaments, cartilage, and fats. One major component of connective tissue is the extracellular matrix (ECM), which is composed of various molecules (e.g., proteins) that give structural and communicative support to nearby cells.  Continue reading

Morphine, Narcolepsy, and EDS

I recently received an email from a reader describing a strange connection she noticed between a sleep disorder and opioids:

I thought you might find this interesting–I most certainly did.

Morphine reversed narcolepsy in mice, and a brain sample from a deceased woman–previously treated for narcolepsy, but who’d taken morphine for a bad back–showed that the morphine had caused her hypocretin (orexin)-managing brain cells grow back to the point where she had complained of even sleeping too much!   Continue reading

Gastrointestinal Manifestations in Joint Hypermobility

Spectrum of Gastrointestinal Manifestations in Joint Hypermobility Syndromes. – PubMed – NCBI

Joint hypermobility is a common, primarily benign finding in the general population. However, in a subset of individuals joint hypermobility causes a range of clinical problems mainly affecting the musculoskeletal system and, to a lesser extent, extra-articular disorders.

Joint hypermobility often appears as a familial trait and is shared by several inherited connective tissue disorders, including the hypermobility subtype of Ehlers-Danlos syndrome (hEDS) and benign joint hypermobility syndrome (BJHS/JHS).

Joint hypermobility is not just about painful joints – it’s a full-body syndrome.   Continue reading

Cause and genetics of local anesthetic resistance

Whole-exome sequencing of a family with local anesthetic resistance. – PubMed – Minerva Anestesiol. 2016 Oct

Many people with EDS experience eventually discover that local anesthetic doesn’t work on them.

This seems so improbable that doctors simply cannot believe it and cause their patients much suffering when they slice into the skin for some procedure for which it should be numbed.

Local anesthetics (LA) work by blocking sodium conductance through voltage-gated sodium channels.   Continue reading

EDS diagnosis for general practitioners

EDS diagnosis for general practitioners – Alan Spanos MD Clinical Associate UNC School of Medicine Chapel Hill, NC – January 2018

Joint Hypermobility: Diagnosis for Non-Specialists

This article describes how physician generalists can make useful working diagnoses of most patients with hypermobility syndromes, and proceed with effective treatment for them.

It is primarily written for physicians. Individuals who suspect they may have a hypermobility condition may wish to read it through, and have their primary care practitioners use it to make a diagnosis.   Continue reading

Ontario (Canada) Witnesses Launch of New EDS Clinic

Expansion of Clinics to Significantly Contribute towards Increasing Demand & Supply of Amino Acid Metabolism Disorders Treatment | FMI | Industry news and insights – August 8, 2018 –  Surbhi Gupta

I found this article in a business publication (Future Medical Insights). Though the article is focused on the “market for amino acid metabolism disorders” and details how much that market is expected to grow, it also happens to mention a new EDS clinic – perhaps there is some connection I’m not aware of?

Ontario Witnesses Launch of New EDS Clinic

Key companies and manufacturers can take into account the point that Ontario has been expanding clinics for the people that are suffering from rare diseases.

Continue reading

Mobile Cecum in a Young Woman with EDS

Mobile Cecum in a Young Woman with Ehlers-Danlos Syndrome Hypermobility type: A Case Report and Review of the Literature – Oct 2017 – free full-text /PMC5675945/

Ehlers-Danlos syndrome, hypermobility type (EDS-HT) is unexpectedly common and is associated with a high rate of gastrointestinal manifestations.

We herein report the first documented case of mobile cecum associated with EDS-HT. A 21-year-old woman with repeated right lower abdominal pain was initially diagnosed with EDS-HT.

The cecum is an intraperitoneal pouch that is considered to be the beginning of the large intestine. It is typically located on the right side of the body (the same side of the body as the appendix, to which it is joined).  Continue reading

Anxiety and joint hypermobility: An unexpected association

Anxiety and joint hypermobility: An unexpected association – Current Psychiatry. 2018 April

Joint hypermobility syndrome (JHS)—also known as Ehlers-Danlos type 3–hypermobile type (hEDS)—is a poorly recognized connective tissue disorder characterized by increased joint laxity that may affect 10% to 25% of the general population.

Researchers are increasingly recognizing an association between JHS/hEDS and psychiatric symptoms and disorders, specifically anxiety.

In this review, we describe the clinical presentation of JHS/hEDS, propose a new “Neuroconnective phenotype” based on the link between anxiety and JHS/hEDS, and discuss factors to consider when treating anxiety in a patient who has JHS/hEDS.   Continue reading

Visceroptosis and the Ehlers-Danlos Syndrome

Visceroptosis and the Ehlers-Danlos Syndrome – X-rays – free full-text /PMC5773269/ – 2017 Nov

This is a detailed story, abundantly illustrated with abdominal X-rays, showing how the lax tissues of EDS may not be strong enough and can allow our organs to sink to the bottom of the pelvis. 

Click on the link to see the full study – the X-rays of this man’s abdomen are spectacularly scary.

The case of a patient with visceroptosis and Ehlers-Danlos syndrome hypermobility type (RDS-HT) is reported here. The literature on this unusual but probably under-recognized complication is reviewed.   Continue reading