‘Symptom Invalidation' in Clinically Uncertain Diagnoses

Medscape

2 days ago

As a young child in the 1980s, Jiwa Farrell earned the moniker 'Little Apple Cheeks' because her face was always so 'cute and pink.' But by the time she was 6 years old, she had already begun recognizing that something else distinguished her from other kids besides her bright pink complexion.
'I had flu-like symptoms all throughout my childhood and always felt very fatigued,' Farrell told Medscape Medical News . 'My muscles ached, my joints ached, and I remember thinking as a kid to myself, 'If I feel this way and other people don't feel this way, what's wrong with me?''
The answer to that question would take a decade for Farrell and her family to discover, and for most of those years, Farrell's mother, Sharon, had grown so frustrated with doctors that she started letting them know at the start of each appointment the word that would cause her to turn around and walk right back out. 'Don't you dare say the word 'hypochondria' to me,' Sharon would tell the doctors. 'She was so angry,' Farrell said, with her mother nodding beside her, 'because she knew something was wrong.'
And yet, 'hypochondria' became the refrain that Farrell and her mother would hear over and over — despite a petite mal seizure at ages 7, 9, and 10, despite frequent fatigue and pain, despite swelling in her knee after a karate tournament that drained blood and scared her pediatrician so much that he sent them to the hospital. Farrell did receive a diagnosis of childhood epilepsy, and the swollen knee was labeled an 'unknown infection' as she spent 3 days on intravenous antibiotics in the hospital. 'And through all these things, the doctors still continued to tell my mom I was a hypochondriac,' Farrell said.
The breakthrough came when she was 16 years old after several events that were difficult to dismiss, although some doctors still did. First her feet, ankles, and lower legs became so hot and swollen that she couldn't walk — initially diagnosed again as an infection. Then while teaching a karate class, her entire right side went numb and she passed out. Farrell had suffered a stroke. Her doctor took her off oral birth control pills, suspecting a blood clot, but her mother, still desperate for answers, showed her medical records to her husband's primary care provider. He ran a few more tests, noted a low platelet count, and sent her to a specific pediatric hematologist-oncologist at the children's hospital.
'As soon as we went in there, she saw my blood work and didn't even examine me before she snapped her fingers and said, 'I know what this is,'' Farrell recalled. She ran tests to be certain, and sure enough, Farrell's antinuclear antibody test came back positive. Farrell finally received a diagnosis of systemic lupus erythematosus.
Today, the 47-year-old from Lakeland, Florida, is a professional lupus patient advocate who helps others advocate for themselves in the way she wished she had known to do.
Healthcare Interactions With No Known Diagnosis: The Fastest Growing Type of Medical Visit
Farrell's experience is frustratingly common — and slowly being recognized as leading to lasting harm to those who live through it. 'Symptom invalidation,' or 'medical gaslighting,' as many patients call it, occurs when doctors dismiss, minimize, or simply ignore patients' symptoms, and it can contribute to depression, anxiety, suicidality, self-doubt, shame, healthcare avoidance, loss of trust in clinicians, and diagnostic delays, according to a recent systematic review.
The study, published in the April issue of Psychological Bulletin , involved a review of 151 qualitative reports of 11,307 patients with 13 conditions known to 'generate clinical uncertainty,' Allyson Bontempo, PhD, of the Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey, and her colleagues wrote. A recent 'upsurge in the prevalence of contested, ambiguous, and difficult-to-diagnose illnesses' has made healthcare interactions with no known diagnosis the fastest growing type of medical visit, they noted. Rheumatologic and autoimmune conditions like lupus, Ehlers-Danlos syndrome, fibromyalgia, and irritable bowel syndrome are among the conditions Bontempo's group studied, but so were conditions that have only more recently been medically accepted as valid, from long COVID to myalgic encephalomyelitis/chronic fatigue syndrome to postural orthostatic tachycardia syndrome.
The researchers identified four broad categories of harm that clinicians' symptom invalidation can lead to:
Poor emotional states, such as self-doubt, feeling neglected or isolated, negative self-esteem, depression, feelings of hopelessness, suicidality, and negative moral emotions like shame, guilt, humiliation, and foolishness;
Negative healthcare emotional states and beliefs, such as healthcare-related anxiety, trauma, loss of trust in clinicians, frustration, anger, and 'burnout' in seeking healthcare;
Induced healthcare behavior, such as avoiding seeking care and underreporting or downplaying their symptoms; and
Diagnostic delay, which averaged 6.7 years in the studies the researchers reviewed.
Growing Awareness in Research
The findings from the new systematic review echo many of those reported recently in a study in Rheumatology that looked specifically at rheumatologic conditions that are often hard to diagnosis, including lupus, inflammatory arthritis, Sjögren disease, systemic sclerosis, polymyalgia rheumatica, vasculitis, or other inflammatory rheumatic disease. That mixed-methods study not only included participants whose symptoms were dismissed as psychosomatic but also many who received an inaccurate psychiatric diagnosis before their proper rheumatologic one. Patients with either experience had a higher incidence of anxiety, depression, and poor self-esteem as well as reduced trust in clinicians and the medical system.
'A key point is for clinicians to always consider autoimmunity when they are faced with a patient with many symptoms which initially don't seem to be linked or have an obvious cause, and not to reach for a psychosomatic or mental health diagnosis before they have ruled this out,' lead author Melanie Sloan, PhD, head of the Long-Term Conditions Group at the Cambridge University Department of Public Health, Cambridge, England, told Medscape Medical News . 'And if they take on a patient who has been misdiagnosed previously, be very aware of how deep and pervasive the damage from these types of misdiagnoses can be.'
More than 80% of patients given a psychosomatic or psychiatric misdiagnosis reported that the misdiagnosis had caused them to distrust doctors at the time and had damaged their self-worth. A little over half reported it had led to long-term distrust in doctors, and 72% continued to feel upset about the misdiagnosis today ( P < .001). Patients who were misdiagnosed with psychiatric/psychosomatic symptoms also reported lower levels of confidence, trust, and satisfaction related to medical care than those who had been misdiagnosed with a different physical condition.
Sloan's study similarly found higher rates of healthcare avoidance and of underreporting symptoms 'from distrust and fear that symptoms would be disbelieved and misattributed again,' the researchers wrote.
Confirming 'Much of What Is Seen in Psychiatric Consultations'
Paula Zimbrean, MD, a professor of psychiatry at Yale School of Medicine, New Haven, Connecticut, was not surprised by the findings in the Rheumatology study and told Medscape Medical News that they confirmed much of what is seen in psychiatric consultations regarding the impact on patients' quality of life and healthcare behaviors of medically unexplained symptoms and the difficulties of getting accurate diagnoses.
However, acknowledging the validity of patients' experiences, asking patients how they would like to move forward as a team after an accurate diagnosis, and continuing to check in and support the patient can be valuable steps in building the clinician-patient relationship.
Sareth Walton, a 40-year-old in Seattle, knows exactly what it feels like to get an incorrect psychiatric diagnosis before finally getting appropriately diagnosed with lupus. After slamming her head into the window during a car accident in 2007, she suffered blurred vision for 3 months. But then other symptoms began: First fatigue, then 'bizarre behavior,' as her husband described it — a 'complete change in personality,' Walton said.
'I was pretty much like a zombie staring at the wall, and I wouldn't respond when spoken to,' Walton said. 'It just went downhill really fast.' She began developing auditory hallucinations and became paranoid that light fixtures were actually cameras from the Federal Bureau of Investigation investigating her life. 'We watched football games, and I thought the commentator was sending me subliminal messages that I'm in danger,' Walton recalled.
When put on a psychiatric hold in a facility over an hour away from her home, her symptoms worsened. Despite being placed in a padded room, she was determined to break free and rammed her body against the walls so hard that the doctors eventually had to tranquilize her. She was diagnosed with a psychotic disorder 'not otherwise specified' and prescribed antipsychotics.
Once stable, Walton checked herself out, but a few months later, she developed ongoing joint pain, then a fever that wouldn't go away. When it climbed to 103 °F after 3 days, her primary care provider sent her to the hospital. Her thyroid and kidney labs were abnormal, and her lymph nodes were enlarged. A team of multiple specialists began piecing together the clinical picture and as they were noting three hallmark symptoms of lupus, she developed the butterfly-shaped malar rash that clinched the diagnosis.
'Looking back now, I wish I didn't get the [psychiatric] diagnosis so quickly because they could have looked outside the box of just mental health,' Walton said. She wished they had done more bloodwork and looked at her 'fresh, like a blank slate.' Yet even after the lupus diagnosis, Walton experienced dismissal of her symptoms. The day after she was discharged with a proper diagnosis, her pain became so extreme that she called an ambulance — and was told by the emergency medical technicians that she was likely just experiencing menstrual pain. Even a nurse at the hospital disregarded her symptoms and treated her as though she was drug-seeking, Walton said.
Reducing the Harms of Symptom Invalidation
Sloan said that 'medical gaslighting' is a common term and that she empathizes with patients who say they have experienced it because their symptoms have been disbelieved, dismissed, or misattributed to another cause. But it's unfair to apply the term to clinicians as it 'implies purposeful intent to cause harm, and it is a very rare clinician that is intentionally trying to harm or distress a patient,' she said.
Her team also interviewed 50 clinicians from a wide range of countries, 64% of whom were from the United Kingdom and 40% of whom were rheumatologists.
'Almost all of the clinicians interviewed in our study were shocked and saddened by the level of long-term distress from these misdiagnoses and highly motivated to improve their patients' experiences,' Sloan said.
'Interestingly, several clinicians explained that they thought they were being reassuring by telling patients that their symptoms were most likely to be psychological or stress-related,' Sloan said. 'They thought this would be preferable to patients worrying about having a disease. Yet for patients who knew there was something seriously wrong with their bodies and felt disbelieved, this 'reassurance,' although usually well-intentioned, was found to often be deeply damaging with life-long and life-changing repercussions.'
In their review, Bontempo and her colleagues suggested that symptom validation happens so often because the training clinicians receive hasn't maintained pace with growing uncertainty about new conditions.
'I don't recommend reassurance about it 'probably being nothing serious' to patients who have a lot of distress about their symptoms,' Bontempo said in a press release. 'Patients appreciate clinicians communicating their uncertainty and admitting they don't know something.'
Sheila Lahijani, MD, a clinical professor of medical psychiatry at Stanford University School of Medicine, Stanford, California, told Medscape Medical News that 'communication is critical' to providing support to patients and attempting to restore their trust in providers.
'Naming what has happened and aiming to have a shared understanding of what has contributed to the misdiagnosis and its consequences are the first steps,' Lahijani said. 'Then, it's about building trust and taking on the approach that the provider and the patient are a team.'
Fotios Koumpouras, MD, an associate professor of rheumatology and director of the Yale Lupus Program at Yale School of Medicine, New Haven, Connecticut, told Medscape Medical News that this topic 'unfortunately has plagued patients with rheumatic diseases,' partly because many of their symptoms can sound bizarre when described by patients, potentially resulting in early disbelief. These findings could therefore be 'impactful to both patients and physicians,' he said.
Koumpouras also noted that some rheumatic diseases, such as lupus, have been found to be associated with anxiety and other psychiatric illnesses, an issue Sloan explored in a previous study. Walton's experience of neuropsychiatric lupus before other symptoms appeared is an example of how this manifestation is often overlooked.
Research has also suggested that a history of trauma or adverse childhood experiences has been linked to development of lupus, Koumpouras said, which could increase the vulnerability of patients with lupus receiving an initial misdiagnosis. Further, many US patients with lupus are African American individuals and may already face barriers to access and healthcare disparities.
Lahijani noted that some patients may develop trauma and stressor-related disorders because of their medical illness, so it can be helpful to acknowledge the potential involvement of a sympathetic nervous system 'in overdrive.' That can then 'cause the 'fight, flight, freeze, fawn' response' that 'may help explain how patients engage in the medical system thereafter,' she said.
'Patients need to be validated about what they have experienced and what residual distress they may have that can manifest as fear, worry, nervousness, hypervigilance, avoidance, or low mood,' Lahijani said. 'Providers also can be more effective in their care of these patients when they are aware of their own conscious and unconscious biases.'
Like Farrell, Sloan acknowledged the time pressures that clinicians face, which makes it all the more important to 'empower and educate patients to be confident in knowing their own bodies,' such as tracking their symptoms and accessing peer support, she said.
'We should not underestimate the power of doctors saying 'I believe you' to patients with multiple invisible symptoms, and 'I am sorry for what has happened in the past' if they had a difficult road to diagnosis. It doesn't create a medico-legal issue, just demonstrates human empathy and a positive start of rebuilding trust and a patient's self-worth.'
The Psychological Bulletin study was funded by the US Department of Health and Human Services, and the authors did not note any disclosures. The Rheumatology study was funded by LUPUS UK and The Lupus Trust. Two authors reported receiving consulting, speaker, or advisory fees from Alumis, Amgen, AstraZeneca, Eli Lilly, GSK, Sanofi, Vifor, and UCB. Another author is CEO of The Wren project, and another is a trustee of LUPUS UK. Sloan and Lahijani had no disclosures. Zimbrean reported consulting for Ultragenyx, Vivet Therapeutics, and Alexion Pharmaceuticals. Koumpouras reported disclosures with AstraZeneca, Aurinia, Cabaletta Bio, Atara Bio, and Adicet Bio.