Recent research by Chanbin Lee and Pradeep Chopra from the USA shows a shocking misdiagnosis rate for people who have Ehler’s-Danlos Syndrome and related Hypermobility Spectrum Disorders (known as hEDS). The study examined anonymised medical notes and questionnaires of 429 patients who had eventually been correctly diagnosed hEDS.
Many were misdiagnosed with psychiatric illnesses and given incorrect treatment. This indicates they spent many years being misunderstood, and did not access the right treatment for their condition, with potentially long-lasting consequences.
What are Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders?
Ehler’s Danlos Syndrome and other conditions that fall under the Hypermobility Spectrum Disorders umbrella are heritable conditions that cause problems with connective tissue. Symptoms include problems with skin, ligaments, joints and blood vessels. Famous for causing ‘double-jointedness’ the condition can also make veins fragile and cause chronic pain. Diagnosis is based on clinical presentation, due to lack of genetic and other tests. This relies on frontline/first-port-of-call doctors like GPs knowing when to refer patients to clinics that specialise in this group of conditions.
Find out more on the NHS website and Ehlers-Danlos Support UK.
When diagnosis works well
When patients are diagnosed in a timely manner they can be helped to understand that any psychological symptoms are, as the authors explain, ‘secondary to the organic cause’. It confirms the patient’s sense that their body is not working properly. It allows the right support (for both the physical condition and any psychological knock-on effects) to be put in place. A misdiagnosis, on the other hand, particularly an incorrect and ill-informed psychiatric diagnosis, can cause ongoing problems.
What is the rate of misdiagnosis?
Chanbin Lee and Pradeep Chopra’s study found that 405 patients (94.4%) had been misdiagnosed with at least one other condition whilst suffering with EDS. Only 24 (5.6%) were initially given the correct diagnosis. Many of the misdiagnoses were psychiatric diagnoses, but given by medics not ‘board certified’ (ie fully trained) in psychiatric medicine.
Shocking dismissal and misdiagnoses that cause extra harm
As the chart below shows:
- 378 patients (88%) reported being told they were ‘making it up’
- 326 patients (76%) reported being accused of ‘attention seeking’
- 286 patients (67%) say they were described as having ‘conversion disorder‘. (This is contested term with roots in theories about ‘hysteria’, now replaced by the term ‘Functional Neurological Disorder’.)
- 255 patients (60%) stated they were told their problems were ‘in their head’
- 16 patients (4% of the total) and their families were accused of ‘factitious disorder’ or Muenchhausen’s Syndrome by Proxy. This means parents or caregivers are accused of inventing symptoms to gain attention for themselves due to their own supposed mental illness. This extremely serious allegation can result in children being removed from their families by the state.
Misdiagnosis has devastating knock-on effects
This level of misdiagnosis goes far beyond a lazy and insulting shorthand for ‘difficult patient’. It has many negative effects that can include:
- blocking further medical investigations by falsely appearing to ‘solve’ the case
- causing someone to be given harmful incorrect medication
- potentially life changing harms from gaslighting, undermining a patient’s sense of self and even triggering state / child protection interventions
Patients experience these traumatic impacts in addition to living with a serious medical condition they have no diagnosis for, and no support with managing.
As the authors say:
… when these patients with hEDS are misdiagnosed with primary psychological disorders that they do not have, they undergo inappropriate psychiatric interventions, while the underlying medical condition continues to progress untreated.
Lee and Chopra, in The Incidence of Misdiagnosis in Patients with Ehlers–Danlos Syndrome
The authors also point to the fact that once a patient has a diagnostic label (even if it’s incorrect) future doctors often believe that diagnosis and fail to order tests or investigate further.
The high misdiagnosis rate of hEDS as psychiatric disorders can be partly explained by biases and limited awareness among healthcare providers. Cognitive biases, such as anchoring (relying heavily on initial impressions) and availability bias (favoring recent or memorable cases), significantly influence diagnostic errors.
Once patients are mislabeled with psychiatric diagnoses, anchoring bias can impede accurate reassessment.
Lee and Chopra, in The Incidence of Misdiagnosis in Patients with Ehlers–Danlos Syndrome
The authors point out that the very high rate of misdiagnosis found in their study may occur for various reasons. Many doctors are simply not aware of the range of symptoms and the pattern of symptoms that indicates hEDS conditions. The cases in the study were all drawn from a specialist clinic that may attract very complex cases which may be more liable to long waits for diagnosis. There is obviously more opportunity for misdiagnoses within that time. Patient reports of previous incorrect diagnoses were used for the study, and were not verified independently.
However, if nothing else, this tells us that combined with a long and difficult journey to the correct diagnosis, many patients felt disbelieved and misunderstood at many steps along the way.
The impact of these misdiagnoses
Children and others who are misdiagnosed with psychiatric illnesses experience stigma and deep frustration in attempting to communicate their reality. This is the same when there are more vague and general suggestions that the patient is ‘attention seeking’ or similar. The authors point out that:
…misdiagnosed children may develop mistrust toward medical professionals, complicating future healthcare interactions. The stigma associated with psychological diagnoses, when patients do, indeed, have hEDS, can exacerbate emotional distress, especially if peers, educators, or family members misinterpret the child’s symptoms as behavioral issues or attention-seeking rather than legitimate medical concerns.
Lee and Chopra, in The Incidence of Misdiagnosis in Patients with Ehlers–Danlos Syndrome
Misdiagnosis is a problem in many conditions. It is part of the trauma experienced by patients who have illnesses that are historically wrongly ‘psychologised’, such as M.E.
Further trauma is caused when the diagnoses that are given are not fully checked by experts in the field. They seem to be a judgement on the character of the patient and their family, rather than an actual diagnosis. If family members believe the misdiagnosis then the patient’s own home becomes a place where they are doubted and questioned.
Paying attention to the trauma of misdiagnosis
Therapists working in this area should be aware of these issues in order to support their clients effectively. A loss of trust in health care professionals engendered by potentially traumatic misdiagnoses can affect the client/therapist relationship as well. Being well-informed about the reasons for this lack of trust will help therapists. It will enable them to understand their clients’ worries and need for reassurance in this area.
The ‘journey to diagnosis’ is an important topic for therapists to enquire about when working with clients who have hEDS as well as other chronic health conditions. It is likely to be a revealing and helpful area to explore.
Thanks for the photo at the top of this page – by Louis Reed on Unsplash
