Some patients with a rare disorder experience complications and have to rely on feeding tubes, intravenous fluids and strong painkillers. Photo / 123rf
By Anusha Bradley of RNZ
People living with a rare connective tissue disorder say new Health New Zealand guidance about their condition is misleading, with some fearing it could leave them without treatment that keeps them alive.
Te Whatu Ora published the updated information on Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorder (HSD) on its website last week, following “a review of current evidence-based EDS information”.
On Friday, it told RNZ the information was written in plain English and only meant to provide a high-level overview.
EDS is a group of inherited connective tissue disorders, often defined by stretchy skin, hypermobile joints and tissue fragility.
Patients often live with chronic and debilitating musculoskeletal pain and gastroenterological problems. They also commonly have Postural Orthostatic Tachycardia Syndrome (POTS), dysautonomia issues and Mast Cell Activation Disorder (MCAD), requiring multidisciplinary and complex medical care.
There are only a handful of specialists who diagnose and treat EDS in New Zealand and dozens of patients have told RNZ they faced years of misdiagnosis, or being told their symptoms were in their head.
Patients and advocacy groups say parts of the HNZ guidance are incorrect and potentially harmful.
“It’s quite alarming that our own [health] agency can’t even provide the correct information,” said Ehlers-Danlos Syndromes Aotearoa New Zealand (EDSANZ) chief executive Kelly McQuinlan.
“We’re already struggling to get the care that we need and this is incredibly damaging.”
The HNZ information linked to EDSANZ’s website giving the impression it endorsed the guidance – which it did not, said McQuinlan.
“We were not consulted, nor were internationally recognised EDS experts in New Zealand.”
She called for HNZ to remove the information until it had carried out “meaningful consultation”.
“The revised material should include appropriate citations that are aligned with current international standards,” she said.
RNZ is aware of at least two formal complaints already made to the Health and Disability Commissioner about the information.
The HNZ guidance states there are only 12 sub-types of EDS, omitting the most common type hypermobile EDS (hEDS) which it conflates with hypermobility spectrum disorder (HSD).
It also states that hEDS/HSD is “not due to a collagen alteration”, implying it is not a genetic condition.
The 2017 international classification of Ehlers-Danlos Syndromes distinguishes hEDS as a separate condition from HSD. While a precise genetic mechanism for hEDS has not yet been identified, hEDS is classified within the group of heritable connective tissue disorders involving collagen or collagen-associated conditions.
HSD is not included in the umbrella of EDS sub-types, and it is not always linked to collagen defects.
It is estimated that around 4000 people in New Zealand have some form of EDS diagnosis.
Prevalence in patients ranges from one in 2500 to one in 5000, though some geneticists think hEDS could be as common as one in 500. The HNZ guidance says fewer than one in 20,000 people have altered collagen EDS.
“It really highlights how much our government and our health system don’t understand or care about the differences,” said Grace Vernal, who lives with hEDS.
Most doctors already knew little about the condition and wrong information could make it worse, she said.
“It just makes something that’s really complicated and stressful, even more complicated and stressful.”
Some people with hEDS can develop life-threatening complications, including abdominal vascular compressions, where blood vessels are squeezed, restricting blood flow causing pain, nausea, vomiting and malnutrition.
Some patients experiencing these complications rely on feeding tubes, intravenous fluids and strong painkillers. Several have sought extensive surgery overseas, because they could not get treatment in New Zealand.
The HNZ guidance cautions against patients paying for private international surgery and it “did not recommend” patients with HSD/hEDS be given intravenous fluids, artificial feeding or opiate pain relief.
“There is increasing evidence in medical literature that people with HSD and associated conditions are at risk of being provided medicines and offered invasive treatments that cause more harm than good,” it stated.
Doctors are divided about the medical evidence for abdominal vascular compressions in hEDS patients. Specialised scans identifying multiple compressions are often obtained privately using novel radiological techniques, and they are not always accepted by doctors working in the public health system.
The Vascular Society of Aotearoa New Zealand said the scientific evidence linking hEDS and vascular compression syndromes was limited. It was aware of patients being harmed by unnecessary treatments.
“Once a patient has confirmed diagnosis of hEDS, the question remains whether these patients increasingly suffer from vascular compression disorders. There is not sufficient evidence yet in the literature to support this at this point,” it said in a 2024 position paper.
It recommended patients be cared for within a multidisciplinary team, including gastroenterology, radiology and psychological assessment.
Rachel Weatherly, who had surgery for multiple compressions in Australia last year, said the HNZ wording around treatments was frightening.
The surgery resolved all her pain and had dramatically improved the quality of her life, she said. She still required tube feeding as her stomach had trouble processing food because it had dropped so low into her pelvis. She is hoping further surgery might be able to fix this.
“The treatments they said are not recommended are literally keeping us alive at the moment – the intravenous fluids, the tube feeds,” she said.
Rachel McKenna’s daughter Jemima Thompson was partially funded by Health NZ to travel to Germany in 2023 for vascular compression surgery after becoming bedridden and unable to swallow.
“Without the surgery, she wouldn’t be here. She’d be dead and I have no doubt about that,” McKenna said.
After surgery, Thompson was able to finish high school and had just started university this year.
McKenna, who co-founded a support group for patients dealing with compression complications, does not believe any other hEDS patients since have been successful in seeking HNZ funding for multiple vascular compression surgery overseas.
A 2023 review by HNZ’s Northern Regional Clinical Practice Committee concluded surgery for multiple vascular compressions was not well founded in scientific literature and any surgery being offered should be considered “innovative and experimental”.
“There will thus be a risk that surgical release in a given patient may provide no relief of symptoms other than a placebo effect,” it said.
Surgery treating multiple compressions is being offered in several countries including Australia, Germany, Spain and Germany, though the techniques used vary between countries and surgeons.
RNZ has spoken to two patients who suffered extensive complications after surgery in Germany, which did not resolve their pain or symptoms.
HNZ did not answer RNZ’s questions about who wrote the updated guidance, which research it was based on, or who was consulted.
“Following a collaborative effort of a range of clinical experts, information for the website was written based on an evidence review conducted by Health NZ to incorporate the best quality international evidence,” Health New Zealand National Chief Medical Officer Dame Helen Stokes-Lampard said in a statement on Friday.
She said a plain English approach was used so the information was accessible. It did not attempt to capture clinical nuances such as sub-types or other technical information.
“For those who want more in-depth reading, links to EDSNZ and Rare Disorders websites are provided.”
McKenna sent an urgent complaint to HNZ, Health Minister Simon Brown and HDC on Saturday.
On Sunday morning, she received a response from Dame Helen, seen by RNZ, stating HNZ did not intend the information to be distressing.
“However, if there is significant concern raised we will review/remove content pending further review.”
She copied in the Minister’s office and HDC to her note saying the matter was an HNZ “website matter that will be addressed swiftly by us.”
HNZ said an EDS working group set up over a year ago had since transitioned to the Rare Disorders Reference Group, which oversaw the review of current evidence-based EDS information.
It had now established a national multidisciplinary committee to assess patients with vascular compressions, but it had yet to receive any direct inquiries.
Rare Disorders New Zealand chief executive Chris Higgins said it was “disappointing and concerning” there had been a lack of consultation about the review.
“We share Ehlers-Danlos Syndromes Aotearoa New Zealand’s frustration. Consumer engagement adds huge value to understanding the lived experience of health conditions, and this is particularly valuable for rare disorders where clinical information is often scarce.
“We expect that as the implementation of the Rare Disorders Strategy progresses, we will see improved engagement between health agencies and the wider rare disorder community,” he said.
- RNZ