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.  

The Ehlers-Danlos syndromes (EDS) manifest as joint hypermobility, skin hyperextensibility, tissue fragility, and a host of potential symptoms and sometimes very serious complications, many of which are gastrointestinal.

We tell the story of a patient with the hypermobility type of EDS (EDS-HT), complicated by

• severe constipation,
• gastroparesis,
• nausea,
• intractable abdominal pains and
• visceroptosis – defined as the displacement of various abdominal organs from their normal positions.

This is something I’ve wondered about: how our internal organs might be affected by our loose connective tissue.

Here’s the X-ray of what can result:

Colonic ptosis: Arrow = transverse colon in pelvis; stars = food residue and barium in stomach

I’m not surprised that it sometimes allows for the displacement of organs. I, too, have had crippling visceral pains that sat in my gut for several hours for no particular reason I could pin it to.

Until 2008, I was very active with a body weight appropriate to my height. I mountain biked and hiked through steep terrain in the back-country. I easily covered great distances carrying a heavy backpack. I had a healthy appetite with no problems. Life was normal and active.

In 2008, I took a two-week road trip across the United States. I was seated for several hours each day. I became constipated. I did not think much of it because I thought it was due to lack of exercise. However, after the trip, the constipation continued and became more and more severe.

I was able to have a bowel movement only once every 10 days. A pain associated with eating began and progressively intensified. I began to avoid eating for days at a time just to keep the pain at bay.

However, I would become so hungry that I would overeat, become very nauseated, and vomit. Sometimes, I would vomit food eaten the day before.

My abdomen was very bloated when standing and I experienced pain in my lower abdomen and also up behind my liver that I can only describe as a tearing, throbbing, pinching sensation.

It is hard to pinpoint when the really severe nausea started. It could have been 2009 or 2010, but the pain, coupled with the nausea, continued to increase. I used to weigh 180 pounds. During this illness, I dropped to 117 pounds.

After my first surgery to look after my slow stomach emptying (details later), the pain and nausea were amplified. When I tried to eat, sometimes the nausea and abdominal pain became very intense. After my second surgery (details later), I was no longer constipated because I now had an ileostomy but…

Today I am in pain all of the time, especially if I try to eat.

Even drinking a cup of clear liquid has been painful.

I have a hard time sleeping and it feels like a pinching, tearing, throbbing, and intense pressure mostly in the lower abdomen. I would be grateful to have anyone’s thoughts on anything that could lead to a better quality of life.

The doctor’s story:

I first met the patient in 2013 when he was 41 years old. His vomiting had become severe and he had been hospitalized with hypokalemic, hypochloremic, metabolic alkalosis

History revealed vomiting of day old food and pills. On examination, his pupils reacted normally to light and there was no postural hypotension or tachycardia

A barium study of his upper gastrointestinal (GI) tract showed marked gastroptosis.

From Wikipedia:  Gastroptosis is the abnormal downward displacement of the stomach.

During a whole gut radio-opaque marker study, 13 of the 19 identified markers were still in his stomach at 23 hours and all 19 markers were still in his rectum and descending colon at seven days.

Later, the study of an upright film, after he had eaten a sandwich with some barium, showed a lot of material in his stomach as well as barium in his colon and a very “ptotic” transverse colon.

A defecating proctogram showed normal emptying but with prominent rectal folds and some small bowel loops posterior to the rectum. CT, barium, and transit studies of the small bowel were normal except that the majority of the loops were deep within the pelvis along with the cecum

In addition to constipation, weight loss, and vomiting, he had three abdominal pains:

• right lateral lower abdomen,
• right lower lateral chest and
• upper abdomen, and a
• deep pelvic pain as well as a
• pain deep to his sacrum

All were described with words such as “jamming, sticking, sharp, tearing, needling, hooking, poking, sharp, and deep”.

Eating tended to make them all worse.

Vomiting and having a bowel movement tended to help as did lying in a Trendelenburg position or using an inversion table

An abdominal support garment did not help

We tried all

• standard laxatives,
• enemas,
• suppositories,
• metoclopramide,
• domperidone,
• erythromycin,
• proton pump inhibitors,
• prucalopride,
• linaclotide,
• a range of antidepressants and atypical antipsychotics, and
• even cannabis oil,

in an attempt to control his symptoms.

They all failed.

Feeding by nasojejunal and gastrojejunal tube was tried but made his nausea and lower abdominal pain worse. He required parenteral feeding to maintain nutrition.

A feeding jejunostomy tube was placed. The vomiting stopped, but abdominal pain and nausea persisted, occurring even with jejunal feeding. Parenteral feeding was restarted. After a further 10 months of attempts to control his symptoms, a partial right colectomy with end ileostomy was performed laparoscopically

The commonest form of EDS is the hypermobility type (EDS-HT), also called the joint hypermobility syndrome (JHS). It has an extremely strong association with the so-called  “functional” symptoms of

• dyspepsia,
• reflux,
• bloating,
• nausea,
• vomiting,
• diarrhea,
• constipation, and
• chronic abdominal pain

When investigated further, gastroparesis, esophageal dysmotility, abnormal small bowel motility, slow transit constipation, rectal defecatory dysfunction, small bowel dilatation, and even celiac disease may be found

Conclusions

Although considered “benign”, EDS-HT/JHS can be a devastating disorder that causes severe physical and psychological distress and marked functional disability.

None of the antinauseants and prokinetics we tried helped. Of all the laxatives, only polyethylene glycol (PEG) worked but at the cost of worsening abdominal pain and nausea. Narcotics helped keep the pain tolerable but made constipation and fatigue worse

In the case we are reporting, the gastric pouch and gastrojejunostomy did stop the vomiting and the ileostomy did remove constipation from the equation, but the patient is still in constant pain which worsens whenever he tries to eat.

What to do now?

This sounds like one of the worst nightmares: inability to take in sustenance without pain. How does a person survive this?

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Here’s a more general PubMed article about the various digestive processes that can go haywire with EDS:

Functional Digestive Symptoms and Quality of Life in Patients with Ehlers-Danlos Syndromes: Results of a National Cohort Study on 134 Patients – free full-text /PMC3838387/ – 2013 Nov

Background and Objectives

Gastrointestinal manifestations in EDS have been described but their frequency, nature and impact are poorly known.

We aimed to assess digestive features in a national cohort of EDS patients.

Methods

A questionnaire has been sent to 212 EDS patients through the French patient support group, all of which had been formally diagnosed according to the Villefranche criteria.

The questionnaire included questions about digestive functional symptoms, the GIQLI (Gastrointestinal Quality of Life Index), KESS scoring system and the Rome III criteria.

Results

Overall, 135 patients (64% response rate) completed the questionnaire and 134 were analyzable (123 women; 91%).

• Eighty four percent (84%) of patients had functional bowel disorders (FBD) according to the Rome III criteria.
• An irritable bowel syndrome according to the same criteria was observed in 64 patients (48%) and
• 48 patients (36%) reported functional constipation.
• A gastro-esophageal reflux disease (GERD) was reported in 90 patients (68.7%), significantly associated with a poorer GIQLI (60.5±16.8 versus 75.9±20.3; p<0.0001).

GIQLI (Gastrointestinal Quality of Life Index) was also negatively impacted by the presence of an irritable bowel syndrome or functional constipation (p=0.007).

There was a significant correlation between FBD and GERD.

Conclusions

Natural frequency of gastrointestinal manifestations in EDS seems higher than previously assessed

FBD and GERD are very common in our study population, the largest ever published until now. Their impact is herein shown to be important. A systematic clinical assessment of digestive features should be recommended in EDS.

Upper GI symptoms: Gastro-esophageal reflux disease (GERD) and dyspepsia

Frequencies of different symptoms of GERD or dyspepsia are shown in Table 3.

• 107 patients complained from heartburn and/or regurgitations (79.3%).
• Seventy-two patients (55%) had undergone upper endoscopy, among which 33 of them (45.8%) were declared to be normal or unremarkable. Nineteen patients had a hiatal hernia on endoscopy.

Lower GI symptoms: irritable bowel syndrome and functional constipation

• Sixty-four patients (48%) reported irritable bowel syndrome (IBS) according to the Rome III criteria with a homogenous repartition according to stool consistency
• Forty-eight patients (36%) displayed functional constipation (FC) according to the Rome III criteria
• 117 patients (87.3%) had a KESS score > 9, which is the generally accepted cut-off for constipation.
• There was a statistically significant association between FBD and GERD: 89.2% (91/102) patients with FBD also had GERD

Impact on quality of life

Median GIQLI  (Gastrointestinal Quality of Life Index) was 63.5 [27-117]. The mean score was significantly lower when compared with a French control population of 238 individuals.

All subscales scores were significantly lower for patients with EDS when compared to the control groups (p<0.0001)

Discussion

In the present survey, we have shown that the frequency of functional gastrointestinal manifestations in EDS was highly prevalent, much higher than previously assessed.

IBS, functional constipation and GERD were present in respectively 48%, 36% and 79% of our study population

Most publications concerning gut symptoms in patients with EDS are dealing with vascular type, certainly because it is the most serious one, but gut symptoms occurring in classical or hypermobility types, which affect the majority of patients are paradoxically less documented.

Our survey is, to our knowledge, the largest in an EDS national cohort assessing gastrointestinal profile of affected patients. All subjects have been formally diagnosed after clinical examination by a single national expert, (CH) according to the validated international Villefranche criteria.

Thus, diagnosis of EDS in the respondents of our survey is thought to be reliable and other phenotypically related conditions must have been excluded.

The major findings of the current study are that

• gastrointestinal manifestations are very common and generally not specific,
• frequently important and that
• they can have a strong impact on quality of life.

There was a statistically significant association between upper and lower GI symptoms.

Overall, median GIQLI  (Gastrointestinal Quality of Life Index) was 63.5 [51.8-76.8], which is extremely low compared to most publications and it is of note that GERD and lower GI symptoms negatively influenced this scoring system.

All these findings clearly indicate that digestive manifestations in EDS are of major relevance and may have been previously underdiagnosed and undertreated.

All reported symptoms are remarkably nonspecific and this could partly explain why little attention has been paid until now to these clinical manifestations. In addition, no severe complication has been described in our population, emphasizing the clear distinction between rare but serious complications of EDS vascular type and other common benign but disabling manifestations, for which literature is scarce.

The medical literature is focused on more specific and dramatic symptoms, which sidelines many EDS symptoms by relegating them to a status of “inconsequential”.

However, while these “inconsequential” symptoms would normally be just that, with EDS, their sheer number and their cumulative nature can make them disabling.

One might hypothesize that tissue hyperextensibility of the gastrointestinal tract could play a role but proprioceptive disorders as well as dysautonomic syndrome which are very common in EDS [13] could also contribute to gastrointestinal manifestations

Whether endoscopic examinations are necessary and at high risk of complication, in particular perforation, is an unresolved question.

On the other hand, the matter of colonoscopy is more sensitive.

Indeed, the risk of perforation is clearly significant in vascular EDS and colonoscopy should be strongly discouraged in this population.

Additionally, the risk of any complication (perforation or bleeding) is theoretically increased in other EDS subtypes, although not quantifiable and although no patient in our cohort underwent any complication.

It emerges that digestive manifestations are extremely common, most frequently nonspecific and not serious but with major consequences on quality of life.

A systematic clinical assessment should be recommended in EDS population and further studies are needed to elucidate the pathophysiology of these disorders and to improve therapeutic management

See also: Mobile Cecum in a Young Woman with EDS