Management of chronic pain in EDS – part 1

Management of chronic pain in Ehlers–Danlos syndrome: Two case reports and a review of the literaturejournals.lww.com –  November 2018 – Part 1

I have a lot to say about this long article, so I’m going to break it into 3 separate posts:

Ehlers–Danlos syndromes (EDSs) are a heterogeneous group of heritable connective tissue disorders involving defective collagen synthesis.

Patients with EDS are prone for chronic myofascial pain, apart from other comorbidities.

Although the initial pathology is commonly nociceptive, progression of EDS leads to neuropathies and central sensitization of pain signals.  

Overall, approximately 90% or more EDS patients suffer from chronic pain. There are no existing guidelines to manage chronic pain in EDS patients.

In this article, we illustrate 2 case reports of EDS patients with chronic pain and review the relevant literature regarding the pathological considerations and management of chronic pain in EDS.

Lessons:

EDS is a complex illness with a multitude of symptoms.

That just about sums it up: our symptoms fluctuate over time and are so diverse in so many different body systems that it’s hard to diagnose, hard to treat, and had to live with.

The symptoms of this genetic condition overlap with many other vaguely-defined “syndromes”:

As in our patients, EDS patients also suffer from panic and anxiety disorders that increase the burden of pain.

I really wish they’d state that this isn’t just from “too much worrying” or “catastrophizing” or some sort of “mental problem.” We aren’t just anxious because we’re in pain, but rather because of some of the genetic changes that create this syndrome.

The biochemical disorder of EDS leads to an altered mental state as well: organic anxiety.

This “mental symptom” can even be seen on fMRI images, so there’s no denying it exists.

Apart from optimization of medications, EDS patients are best managed by a multidisciplinary approach that includes pain education and life style changes.

Appropriate pain interventions in selected patients may have a role to decrease pain intensity.

This is a strange sentence stating the obvious: treatment to alleviate pain, if effective, leads to less pain. If it weren’t effective, it’s wouldn’t be an “appropriate intervention.”

Introduction

The Ehlers–Danlos syndromes (EDSs) are a heterogeneous group of heritable connective tissue disorders characterized by

  • joint hypermobility,
  • skin hyperextensibility, and
  • tissue fragility.

…and a slew of other physical problems.

The generalized condition is referred to as joint hypermobility syndrome (JHS). Per se, JHS is itself not considered a disease as it has a relatively benign prognosis and is considered a multifactorial trait with possible genetic basis, without specific genetic markers.

In EDS, however, specific genetic mutations affecting collagen or other components of the extracellular matrix lead to the above characteristics and ultimately result in its clinical manifestations, including chronic pain.

1.1 Epidemiology

Although EDS has been traditionally considered a rare disease, it is possibly more common. Some have observed a prevalence of 1 in 150,000 (southern English population) to 1 in 5000.

1.2 Etio-pathology of EDS

EDS is inherited, mostly as an autosomal dominant pattern, with an underlying genetic mutation affecting fibrillary collagens.

This leads to a qualitative defect within the collagen causing disorderly arrangement and abnormal mechanical integrity. 

Here are some posts explaining collagen, its defect from EDS, and how connective tissue defects affect the whole body – the skin and everything inside it, even our brain.

And for the science nerds, here are more technical posts on how the genetics of EDS affect various cell types:

This fundamental defect in collagen affects all organs with the presence of collagen including

  • joints,
  • ligaments,
  • skin,
  • tendons,
  • internal organ walls such as in blood vessels and
  • gastrointestinal tract.

Defects in the collagen results in weakness and increased elasticity leading to the above characteristics resulting in chronic pain issues.

This connective tissue defect seems to be at the root of all our troubles:

Depending upon the EDS type the manifestations and their consequences on individual patients vary. Major morbidity and death are commonly as a result of arterial rupture.

EDS is expressed differently in individuals, making it fiendishly difficult to diagnose. On the other hand, “researchers are now beginning to demonstrate just how many systems of the body may be affected by mechanical changes in connective tissue”.

1.3 Classification

The initial classification of EDS included 6 types. More recent gene sequencing techniques have led to a revision in 2017 that includes 13 subtypes of EDS.

1.4 Diagnosis

The diagnosis of EDS can be challenging. Because it is based mostly on patient’s history, subtle clinical findings and a family history, a clinician must have a high degree of suspicion. Most subtypes of EDS are inherited as an autosomal dominant disorder

1.5 EDS and chronic pain

Patients with EDS can suffer from chronic pain and also be susceptible to physical trauma and stress.

There is a strange link between the defective tissues of EDS and what seems to me, the same fragility in mental states: Study of connective tissue is shedding light on pain.

Since this is a relatively uncommon condition affecting all over the body, management of chronic pain in these patients can be challenging. It needs careful evaluation and consideration for multidisciplinary management of pain as localized pain interventions may not be entirely helpful.

In this article, we highlight case history and successful pain management in 2 patients with EDS, and also review the relevant literature from the perspective of chronic pain in EDS patients and highlight the role of multidisciplinary treatment.

2 Case reports

You can read about these specific cases in the free full-text paper itself.

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3 Discussion

3.1 Chronic pain and EDS

Chronic pain is common in EDS, particularly in the hypermobility type. 

As seen in our case report, it is strongly related to reduced quality of life and physical disability. 

(See Quality of Life in Joint Hypermobility Syndrome/EDS and posts with tag “QualityOfLife“.)

According to one study, nearly 90% of patients report some form of chronic pain. 

Pain issues are usually the presenting symptoms of this illness. For example, Ontario’s new EDS clinic at University Health Networks reports receiving 80% of its referrals from chronic pain clinics in the Greater Toronto area. 

The common characteristics of chronic pain in EDS and sequence of symptom changes are summarized in Fig. 1.

Mechanisms involved include

  • nociceptive,
  • neuropathic,
  • central sensitization (CS), and
  • associated psychological traits,

all of which were present in the case reports. We looked at studies reporting pain due to EDS in Medline and summarize the types of pain and their possible incidence in Table 3.

 

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