The EDS GP toolkit is provided by The Ehlers-Danlos Support UK

Brief overview of management issues in hEDS HSD

Pain

Pain is an almost universal experience for patients. Many types of pain conditions can affect people with hEDS/HSD and pain has a huge impact on quality of life.

  • Acute pain – joint injuries, tendonitis, bursitis and synovitis are common
  • Chronic or persistent pain (including problems with central pain processing) was found to affect 90% of patients in one study.
  • Chronic widespread pain and/or fatigue (akin to fibromyalgia)
  • Neuropathic pain, possibly due to direct nerve impingement, for example from herniated discs or joint dislocations.
  • Myofascial pain is little understood, but exists as part of many soft-tissue conditions, including hEDS/HSD
  • Complex Regional Pain Syndrome seems to be more common. There is some weak evidence suggesting this may be mediated by Mast Cells.
  • Osteoarthritis pain may develop earlier than in the general population.

Gut issues

This short article addresses some of the multitude of ways in which hEDS/HSD can affect the gut

  • Functional gut disorders are widespread in hEDS/HSD patients. These include dyspepsia, reflux, bloating, IBS, recurrent nausea and vomiting, dysmotility, small intestinal bacterial overgrowth, constipation and/or diarrhoea.
  • Both coeliac disease and inflammatory bowel disease are more prevalent amongst people with hEDS than the general public. These conditions must remain in the differential diagnosis of gut symptoms in hEDS/HSD. Anecdotal reports of non-coeliac gluten-sensitivity in hEDS/EDS are widespread, but there are no reliable studies.
  • Many of the drugs used to manage other symptoms of hEDS/HSD such as NSAIDs, opioids, tricyclics and SSRIs may exacerbate gut symptoms.
  • If a PPI is prescribed, consider that this increases the risk of nutrient deficiencies due to impairment of absorption. Switching to ranitidine may be worth consideration, due to its action as a histamine 2 receptor blocker. This may be helpful in the context of allergy-type symptoms or food intolerances (see section on MCAS below).
  • When treating constipation or sluggish bowel, lactulose can aggravate gut fermentation and is best avoided. Patients with hEDS/HSD may require stimulant laxatives in addition to stool softeners in treating chronic constipation.

Nutrition

Nutrition is emerging as a possible area for managing symptoms in hEDS/HSD. There are anecdotal reports of global improvement of hEDS-related symptoms following patient-led “trial and error” diet-based interventions, as well as through the use of enteral nutrition via nasogastric feeding, percutaneous endoscopic gastrostomy/jejunostomy feeding, and total parenteral nutrition. However, to date, there are no studies of nutritional interventions in EDS/HSD.

Some patients also report benefit from the use of particular vitamin, mineral or other supplements, although again compelling research evidence is lacking. Due to the active online communities, these experiences are shared widely. More research is desperately needed in this area, since due to the severe and long-term impact on quality of life which these conditions sometimes have, many of our patients are currently faced with no other option but a trial and error approach to getting well, based on little more than hypothesis and anecdote.

Cardiovascular Autonomic Dysfunction (PoTS and low blood pressure)

Vascular abnormalities in people with hEDS/HSD can manifest as postural tachycardia syndrome (PoTS) or orthostatic hypotension (OH). A likely mechanism is failure of the normal vasoconstrictive response to upright posture, resulting in pooling of blood in limbs and gut vasculature, and a tendency to hypotension and reactive tachycardia. This results in orthostatic intolerance – the development of symptoms in the upright position that are relieved by lying down.

Treatment for PoTS and OH

Mast Cell Issues

As an emerging field, doctors are, once again, in a difficult position with regards to their patients. The treatment steps suggested by leading experts in the field are based on their experience, in the absence of any trials in MCAS or any specific licenced medications. At least the first few steps involve simple, well-established (even over-the-counter) drugs, sometimes indicated for particular symptoms, and the potential benefits are great for the patient. The authors of a recent article on MCAS from the International Consortium on the Ehlers-Danlos Syndromes remind us that ‘The clinical (and suspected underlying mutational) heterogeneity of Mast Cell Activation Disorders ensure each therapy found helpful in certain patients will fail in others’. They advise that EDS doesn’t affect the management of MCAS significantly and a trial and error approach usually results in finding a regime which improves symptoms from baseline. If no improvement is reported after a month’s trial, that medication should be stopped. Most patients require several medications to control symptoms. There are, as yet, few UK-based specialists who claim expertise with MCAS.

This is the stepped approach based on the article above and this pharmacology review.

  • Find and avoid triggers (certain drugs or tablet fillers, foods, fragrances, heat, vibration, exercise, stress)
  • Block H1 receptors with an antihistamine (loratadine or fexofenadine)
  • Block H2 receptors with ranitidine or similar
  • Consider the use of vitamin C, NSAIDs or aspirin (if tolerated, but this may trigger mast cells in some), flavonoids such as quercetin and luteolin, or benzodiazepines, however none of these medications has a licence related to mast cell diseases
  • In severe cases, steroids and adrenaline auto-injectors may be indicated
  • Consider the many other drugs reported in the literature, depending on the body system or symptoms

Musculoskeletal matters

There are a number of common causes of head and neck pain in hEDS/HSD including:

  • Migraines are common. NICE recommends Riboflavin (vitamin B2) as a preventative treatment for migraine and lists magnesium and Coenzyme Q10 supplementation alongside amitriptyline in ‘other drugs’ for which there is some evidence of benefit.
  • Temporomandibular Joint Dysfunction is also very frequently found.
  • Cervical disc degeneration

The following conditions are very rare and the exact association with EDS in not well understood, but patients may ask about them:

Special considerations for children

Children who have a parent with hEDS/HSD have a one in two chance of being affected. They may present with symptoms in keeping with the diagnosis, but it can be difficult to be certain at a young age. A precautionary approach seems advisable, and to consider each symptom with an awareness of hEDS/HSD (including MCAS). ‘Growing pains’ and recurrent abdominal or bladder symptoms are common presenting features in pre-pubescent children, with joint pains and fatigue more common after the onset of puberty. Autistic Spectrum Disorder shows a 7-fold increased prevalence amongst people with hEDS/HSD. hEDS/HSD symptoms are equal in boys and girls before puberty, with boys then generally showing improvement, whilst this is often the point at which girls present with significant issues. Handwriting pain and difficulties with sports can prove problematic in terms of schooling.

The Schools Toolkit is a free resource for staff to help support pupils with joint hypermobility syndrome (JHS) or the Ehlers-Danlos syndromes (EDS)

This page on the Hypermobility Syndromes Association (HMSA) website include a wealth of resources for children.

Women’s health

The female hormones have a significant impact on worsening EDS and gynaecological issues are also extremely common in hEDS/HSD. Dysmenorrhoea, menorrhagia, dyspareunia, pelvic pain and infertility are all reported with high prevalence. Pregnancy complications are also a risk, and childbearing can sometimes have long-term impacts on women’s health.

  • Hormones and hypermobility.

Special considerations when planning a pregnancy

Anaesthetic and Surgical considerations

Due to the many issues of hEDS/HSD, many patients will need surgery of one kind or another at some stage. Here we cover the additional considerations for the surgical team. It is worth noting that in one study of 79 patients, 71% had undergone surgery but of these, only 34% reported a positive outcome. When discussing treatment options with patients, as GPs, it is worth bearing in mind that surgical outcomes are less likely to be satisfactory than in other patients.

Adapted techniques and detailed information about the consequences of EDS are required to improve surgical results. Three basic problems arise: