Health NZ reviewing how Ehlers-Danlos Syndrome is diagnosed and treated

Wellington teenager Julia Choquette has abdominal vascular compression syndromes and hypermobile Ehlers-Danlos Syndrome.

Health New Zealand Te Whatu Ora is reviewing how a rare connective tissue disorder is diagnosed and treated because “the current evidence is of low quality”.

It comes as a succession of Kiwis with Ehlers-Danlos Syndrome (EDS), several of whom are young women, have resorted to fundraising more than $100,000 each for surgery that’s unavailable in New Zealand in the hope they can eat and drink normally again.

Some patients have also raised concerns about their struggle to be diagnosed with EDS, including being accused of faking their illness, being wrongly diagnosed with eating disorders, or told they have traces of personality disorders.

One of those booked for surgery in Germany is Wellington teenager Julia Choquette. Once a fun-loving student involved in competitive cheerleading, she hasn’t eaten solid food for more than a year.

Health NZ has emphasised that EDS is an extremely rare group of conditions and no single treatment, including surgery, is always successful in removing the underlying problem.

“As with any evolving medical condition, particularly where the available evidence for treatment is poor or of low quality, any diagnosis of EDS must be carefully considered,” it said in a statement.

The Herald asked Health Minister Shane Reti under the Official Information Act for all advice he had received about EDS as of July.

Reti’s office replied that there was no such information but said Health NZ’s interim chief medical officer was leading a process to review the approach to diagnosing EDS in the public health system.

“The group involved in this review will consist of relevant specialists and provide consistent nationwide advice on appropriate, evidence-based diagnosis and treatment protocols.”

Julia Choquette was able to book surgery in Germany after her school, Queen Margaret College in Wellington, fundraised nearly $32,000.

The review will cover abdominal vascular compression syndrome (AVCS), which occurs when blood vessels are under abnormal pressure, restricting blood flow, which can make sufferers feel weak and cause extreme pain.

Health NZ said AVCS could be a complication of EDS and other conditions, and might be a consequence of weight loss.

“A very careful assessment of how we diagnose and treat [it] in New Zealand is required because the current evidence is of low quality, with no published randomised controlled trials.

“The studies that are available are poor due to inconsistent reporting of participants’ characteristics and the use of multiple diagnostic processes. Additionally, outcome reporting is relatively short-term in most studies, and reported outcomes were highly variable.”

The rates of symptoms improving and recurring were also highly variable across studies, with some reporting high recurrence rates, Health NZ said.

AVCS is the condition for which Kiwis with EDS are seeking overseas surgery.

Vascular surgeon Chris Holdaway, a former Waikato Hospital head of surgery, told NZME in June that he had been to Germany to learn about the left renal vein surgery and had been battling to perform it in New Zealand.

The surgery involves putting a ringed piece of reinforced polytetrafluoroethylene graft, cut down one side and wrapped around the left renal vein – a large structure in the abdomen. The rings stop the vein from being compressed.

Health NZ is also establishing a national vascular multidisciplinary team to provide an “escalation point” for specialist review for EDS patients wanting access to the High-Cost Treatment Pool.

This pool of money is available for patients requiring expensive treatment or procedures that are not otherwise funded or provided by the public health system.

Some EDS patients with AVCS have gone straight to Givealittle to raise funds for overseas surgery, based on their predecessors’ unsuccessful attempts to access the High-Cost Treatment Pool.

Health NZ said the new team of specialists would determine whether a case was best managed without surgery or, if surgery was recommended, whether it should be done overseas or locally.

“To be clear, the establishment of this team is not in response to any individual case or diagnosis, but about ensuring consistency across the country.”

However, it would take some time before this team can start considering cases.

Ehlers-Danlos Syndromes New Zealand founder Kelly McQuinlan said her organisation supported any effort to improve the lives of patients if it was a collaborative approach that also involved their families.

A lack of knowledge and training were the main problems with diagnosing EDS in New Zealand, she said.

“We are also faced with medical professionals who ‘do not believe’ in this condition, and [we] get the ‘it’s in your head’, ‘it must be anxiety’.

“For those who present as female, it’s ‘you’re too sensitive and overthinking’.”

McQuinlan said the New Zealand system was not working, including poor data collection, which meant the Government did not have a true understanding of what was required.

“With correct visibility and funding, we would likely get more doctors, more nurses, more training and, most importantly, wraparound care for individuals and whānau due to the scale of what is actually needed.”

Georgina Campbell is a Wellington-based reporter who has a particular interest in local government, transport, and seismic issues. She joined the Herald in 2019 after working as a broadcast journalist.