Gastrointestinal Symptoms in Marfan Syndrome and Hypermobile Ehlers-Danlos Syndrome

The good thing is though I’ve found lots of good ways to manage it over the years. This type of reflux is quite common, and mjg2’s suggestions are exactly the course of action I would take. I often sleep propped up for this reason (food, not pills, but same mechanism).

Abdominal bloating is a common symptom in people with hEDS, and although the underlying causes are not fully understood, it is thought that dysmotility may be a contributing factor. Overgrowth of bacteria of the small bowel can occur if there is stagnation within the bowel (i.e. constipation) and this can lead to excessive fermentation of food leading to production of gas, which can also be associated with bloating.

Difficulties with mood, particularly anxiety, panic depression and disorder, are common conditions in the general population but they are more commonly experienced by people with EDS. People with EDS are more prone to hernias in the groin and in surgical scars.

The thirteen Ehlers-Danlos syndromes

The association between hEDS and GI symptoms was first described 12 years ago, finding that hEDS patients attending a clinic had significantly more GI symptoms compared to controls (37% vs. 11%). The most common GI symptoms were nausea, abdominal pain, constipation, and diarrhea.

Marfan syndrome (MS) is a multisystem disorder caused by a mutation in FBN1 gene. It shares some phenotypic features with hypermobile Ehlers-Danlos syndrome (EDS) such as joint hypermobility. EDS is a combined group of inherited heterogenous multisystem disorders characterized by skin hyperextensibility, atrophic scarring, joint hypermobility, and generalized tissue fragility. Hypermobile EDS (hEDS) is thought to be the most common type.

Joint Hypermobility and Joint Hypermobility Syndrome

These patients have a different disease appearance, with more long-term pain, distress, anxiety, problems with automatic functions like blood pressure and heart rate, and poorer pain-related quality of life. The management of these patients might differ. For instance, those with overlap may require earlier need and identification management from many specialists. GI symptoms in patients with tenascin-X (TNX) deficiency (classical-like EDS, clEDS) include abdominal pain, lack of intestine movement, and perforations with hernia occurring after surgery.

eds and acid reflux

Physical therapy, psychological methods (such as cognitive behavioural therapy), specialist pain management and dietary guidance can all play a part in better symptom management. But just like medications, these methods must be undertaken upon the advice of your doctor and under the appropriate supervision of a professional familiar with your condition. It is also worth remembering that no treatment or therapy is going to ‘cure’ you and not every option may be of benefit for everyone. After assessment your doctor shall develop a plan for your treatment which is most suited to you, based on the current available evidence.

  • vEDS can be complicated by abnormal diaphragm shape.
  • D, Cardiac abnormalities such as a left ventricular diverticulum.
  • It is inherited but so far no gene has been identified as the cause.
  • The correct answer is diarrhea.
  • She showed bilateral clubfoot; motor developmental delay; severe muscle weakness with a positive Gowers’ sign; progressive severe scoliosis that required surgical intervention; severe joint hypermobility of fingers, wrists, and toes; soft skin; easy bruising; normal hearing; nasal speech; and dysarthria.
  • This is quite a common finding and is not dangerous usually, but it can mean that the muscle that closes to stop food or liquid contents of the stomach from escaping back up into the oesophagus is somewhat inefficient, resulting in the acid reflux and/or heartburn symptoms, and this is called gastroesophageal reflux disease (GERD or GORD).

Controls were recruited from outpatients attending the fracture clinic at St. George’s Hospital, one control being recruited for each MS and hEDS patient, matched by gender and age (±10 years). Hypermobility was assessed in these controls using Beighton criteria, and scores of 4 or less were included. All patients completed the questionnaires themselves while attending clinic. No financial or other inducements were given. Patients attending outpatients at St. George’s Hospital who had an existing diagnosis of MS or hEDS were asked to complete SF36 RAND and Rome IV Diagnostic questionnaires.

Symptoms of joint hypermobility syndrome

Despite significant progress in our understanding of the mechanisms that lead to gastro-oesophageal reflux, we have made very little progress in understanding symptoms. Recognition of transient lower oesophageal sphincter relaxation (TLOSR) as the main cause for physiological and pathological acid reflux is a typical example.5,6 While responsible for most acid reflux events, in reality TLOSRs are rarely associated with symptoms as most acid reflux events that occur in GORD patients or in healthy subjects are never perceived7 (fig 1). Like pain and fatigue, . many patients are not aware of how bad their sleep is just. Although some people are aware of waking often or of having frequent very vivid dreams, many will insist that they “sleep fine,” even while admitting that after sleeping 8 hours they don’t feel rested when they get up. One obvious reason for this lack of awareness is, of course, that they’re asleep, so they have no way of knowing that they’re not getting enough deep sleep or having way too many arousals.

Interstitial cystitis, which causes frequent and painful urination often, and often more diffuse pelvic pain as well, appears to occur with increased frequency in patients with hypermobility. A bladder that stretches much may not empty completely too, or may signal the brain that the bladder is full when it isn’t. As with digestion, autonomic fluctuations can cause difficulty or frequency of urination. In addition, hypermobility may be associated with an increased risk of endometriosis (tissue that normally lines the uterus grows somewhere else, such as on the ovaries, behind the uterus, or on the bowels or bladder).

Pain in this area often is referred to as “tennis elbow” and “golfer’s elbow.” In addition, many people with JHS suffer frequent ankle sprains, which like elbow and shoulder injuries, may take a very long time to heal because they tend to get injured again and again while they are trying to heal. Dedicated to my hypermobile patients, from whom I have learned so much.

eds and acid reflux

rolled-up skin around joints which can be easily injured, little mobile nodules under the skin and easy bruising. Floppy muscles can be a feature, and children with cEDS might be slow to stand and walk. This hypermobility type is very similar to benign joint hypermobility syndrome (BJHS).

No standardized approach has ever been adopted to describe them properly. Only life-threatening complications such as spontaneous perforation or massive bleeding have been reported but one might question the representativeness of such reports regarding the whole population of EDS since it was generally in vascular types of EDS. Our survey is, to our knowledge, the largest in an EDS national cohort assessing gastrointestinal profile of affected patients. All subjects have been diagnosed after clinical examination by a single national expert formally, (CH) according to the validated international Villefranche criteria.

Although the evidence presented herein does not prove causation, it does support an association between GI symptoms, GI dysmotility, and POTS. At present, the evaluation and treatment of GI symptoms in patients with POTS remains largely empirical. General measures to treat POTS might lead to improvement in both GI and non-GI symptoms.

eds and acid reflux

Leave a Reply

Your email address will not be published. Required fields are marked *