Misdiagnosis and Implications of Ehlers-Danlos Syndrome, Postural Orthostatic Tachycardia Syndrome, and Mast Cell Activation Syndrome

 

The Consequences of Misdiagnosis in Medicine: An Overview

Introduction

 

Pradeep Chopra, MD, MHCM

 

The information provided is for general informational purposes only and should not be construed as professional medical or legal advice. Readers should consult qualified healthcare providers or legal professionals for specific guidance related to their individual circumstances. The authors and publishers assume no liability for decisions made based on this information.

Misdiagnosis remains one of the most pervasive challenges in modern medicine, with far-reaching implications for patient health, emotional well-being, and healthcare systems. Defined as the incorrect identification of a condition or the failure to identify a condition altogether, misdiagnosis can lead to delayed treatment, unnecessary interventions, and avoidable morbidity and mortality. This article explores the multifaceted harm caused by misdiagnosis, focusing on its impact on patients and healthcare delivery.Copywrite Pradeep Chopra. Not to be reproduced without permission.

The Scope of the Problem

The prevalence of diagnostic errors is alarming. Studies estimate that 10% to 15% of all medical diagnoses are incorrect [1]. According to the National Academy of Medicine, nearly every individual will experience a diagnostic error during their lifetime [2]. Misdiagnosis occurs across various specialties, with conditions such as chronic pain, Ehlers Danlos Syndrome, Complex Regional Pain Syndrome, PoTS, headaches, head pain being among the most commonly misdiagnosed [3]. Misdiagnosis of patients with EDS, PoTS, CRPS, Gastroparesis is often made by junior doctors such as Medical Residents who are poorly trained. This misdiagnosis once entered into the electronic medical record is then passed on to other physicians who assume that the diagnosis was made by an educated doctor.

Impact on Patients

 

Physical Harm

Misdiagnosis often results in inappropriate or delayed treatments, exacerbating the underlying disease. For instance, a patient misdiagnosed with dizziness as anxiety or gastroparesis as eating disorder may experience irreversible neurological damage due to delayed appropriate therapy [4].

Psychological and Emotional Harm

The emotional toll of misdiagnosis can be profound. Patients who receive an incorrect diagnosis may endure anxiety, depression, and a sense of betrayal upon discovering the error. Misdiagnosed conditions such as mental health disorders can further stigmatize individuals and delay appropriate care, compounding psychological distress [5].

One significant consequence is the development of medical post-traumatic stress disorder (mPTSD), particularly in cases where a patient’s valid symptoms are dismissed as mere anxiety. This form of trauma stems from repeated invalidation, delayed treatment, and the worsening of an undiagnosed organic condition. Patients often report feeling helpless and mistrusted, which can lead to avoidance of future medical care, thereby increasing the risk of complications. The distress caused by being labeled with a psychological diagnosis without appropriate evaluation can result in chronic mistrust of healthcare providers and institutions.

What is worse is that a misdiagnosis made by a poorly trained Medical Resident or doctor results in the involvement of a species of doctors called “Child Abuse Doctors”. These are pediatricians, most of who are poorly trained. These “Child Abuse Doctors” spin the misdiagnosis, report the condition to the Child Protection Services often resulting in the child being separated from their parents.  In all the cases that I have reviewed, the initial medical doctor and the “Child Abuse doctor” have been grossly wrong indicating their lack of education.

Financial Burden

The economic impact of misdiagnosis is significant, both for patients. Incorrect diagnoses often lead to repeated diagnostic tests, consultations, and treatments, inflating medical costs, legal costs, loss of employment.

Short-term and Long-term Effects in Children with EDS, POTS, MCAS

 

1. Symptom Overlap

The symptoms of EDS, POTS, and MCAS often mimic other conditions, leading to misclassification. For example, fatigue, dizziness, and gastrointestinal complaints are common in all three, making it challenging to identify the primary diagnosis without a systematic approach (Raj et al., 2020).

2. Lack of Awareness Among Healthcare Providers

Many clinicians are unfamiliar with the diagnostic criteria for EDS, POTS, and MCAS. This results in misattributions, such as labeling POTS symptoms as anxiety or diagnosing MCAS as irritable bowel syndrome (IBS) or chronic urticaria (Theoharides et al., 2015).

Implications of Misdiagnosis

 

1. Physical Health Consequences

Failure to diagnose EDS may lead to increased risk of complications such as joint dislocations, chronic pain, and organ rupture. Mismanagement of POTS can exacerbate cardiovascular instability, leading to further debilitation. For MCAS, untreated episodes of mast cell degranulation can progress to anaphylaxis and life-threatening complications.

2. Mental Health Burden

Patients with undiagnosed or misdiagnosed conditions often experience psychological distress due to invalidation of their symptoms. Studies report higher rates of anxiety and depression in patients with misdiagnosed EDS, POTS or MCAS.

3. Economic and Social Impact

Chronic mismanagement of these disorders contributes to high healthcare utilization, including frequent hospitalizations, unnecessary diagnostic tests, and ineffective treatments. Additionally, many patients face barriers to maintaining employment and social relationships.

Strategies for Improved Diagnosis

 

1. Education and Training

Increasing awareness among healthcare providers through continuing medical education programs can reduce misdiagnosis. Collaborative care involving specialists such as geneticists, cardiologists, and immunologists is essential.

2. Standardized Diagnostic Criteria

Improved standardization and dissemination of diagnostic criteria for EDS (e.g., 2017 International Classification for EDS), POTS, and MCAS can aid clinicians in identifying these disorders accurately (Malfait et al., 2017).

3. Patient Advocacy and Empowerment

Encouraging patients to track their symptoms and advocate for comprehensive evaluations can facilitate earlier diagnoses. Support groups and educational resources are valuable tools for patient empowerment.

Harm from Misdiagnosing Organic Conditions as Psychological in Children

 

When children with organic medical conditions are misdiagnosed with psychological disorders, the consequences can be particularly damaging. Organic conditions such as Ehlers Danlos Syndrome, Postural Orthostatic Syndrome, Orthostatic Intolerance, Mast Cell Activation Syndrome can present with symptoms that mimic psychological disorders like anxiety, depression, or Conversion Disorder. Mislabeling these symptoms can result in delayed or entirely missed medical treatment, worsening the child’s physical health.

In the short term, this misdiagnosis can lead to inappropriate psychiatric interventions, such as unnecessary medications or therapies, while the underlying medical condition continues to progress. For instance, a child with Gastroparesis might be misdiagnosed with eating disorder, receiving antipsychotic drugs rather than appropriate therapy, leading to severe neurological complications.

Long-term consequences include irreversible damage due to untreated medical conditions, which could have been managed effectively if diagnosed correctly. Children may also develop a mistrust of medical professionals, making it challenging for them to seek help in the future. The stigma associated with a psychological diagnosis can compound emotional distress, especially as peers, educators, or family members may perceive the child’s symptoms as behavioral or attention-seeking rather than genuine.

The impact on families is also significant. Parents may face blame or criticism for their child’s perceived psychological issues, adding to their emotional burden. Moreover, they may feel isolated or helpless when advocating for further investigations into their child’s health, particularly if their concerns are dismissed by medical professionals. Addressing this issue requires greater awareness and training for healthcare providers to recognize atypical presentations of organic illnesses and a collaborative approach involving pediatricians, pain medicine specialists

The Role of Qualified Professionals in Diagnosing Psychological Conditions

 

Diagnosing psychological conditions such as Conversion Disorder requires specialized expertise typically found in mental health professionals, including psychiatrists and clinical psychologists. When unqualified physicians, such as neurologists or general practitioners, make such diagnoses without thorough psychiatric evaluation, the potential for harm increases significantly. Conversion Disorder, by definition, is a diagnosis of exclusion and requires careful consideration of both organic and psychological causes. Failing to adhere to this principle can lead to severe consequences. In a recent example, a young lady who was diagnosed to have an abdominal condition called Median Arcuate Ligament Syndrome was scheduled for surgery. Meanwhile, she had an acute flare up of her abdominal pain and was seen at a major hospital in Boston. The medical resident (a junior doctor) who was uneducated on MALS, called the surgeon and informed him that she was lying about her pain. Based on this misinformation, the hospital cancelled the surgery.

For instance, neurologists may focus on ruling out neurological conditions but lack the training to conduct comprehensive psychological assessments. This can result in premature conclusions that label a patient with a psychological disorder without exploring deeper psychological or situational factors. Misdiagnosis by unqualified professionals often leads to inadequate or inappropriate treatments, such as prescribing medications that do not address the root cause of the condition.

The harm caused by such misdiagnoses includes delayed access to appropriate mental health care, worsening of untreated psychological symptoms, and potential exacerbation of underlying organic conditions. Furthermore, patients may lose trust in the healthcare system due to perceived neglect or invalidation, which can have long-term implications for their mental and physical health.

Collaboration between trained specialists is essential to ensure accurate diagnosis and treatment planning. Untrained doctors should not express false opinions on a diagnosis that they are not educated upon.

Systemic Consequences

 

Strain on Healthcare Resources

Misdiagnosis contributes to inefficiencies within healthcare systems. Additional diagnostic workups and treatments necessitated by diagnostic errors can strain already limited resources, leading to longer wait times and reduced access to care for other patients [7].

Medicolegal Repercussions

Diagnostic errors are a leading cause of malpractice claims. In the United States, diagnostic-related claims accounted for 34% of total malpractice payouts over a 25-year period. Families are being crushed by the burden of being accused of mistreatment of their child by doctors and “child abuse doctors” leading the expensive legal fees, stress and even suicides.

Loss of Trust in Healthcare

Misdiagnosis undermines trust in medical professionals and institutions. Patients who experience diagnostic errors may become skeptical of medical advice, leading to reduced adherence to future treatments and a higher likelihood of seeking alternative or unproven therapies

Causes and Contributing Factors

 

Cognitive Errors

Cognitive biases, such as anchoring bias (over-reliance on initial impressions) and availability bias (relying on recent or memorable cases), play a significant role in diagnostic errors

Systemic Issues

Poor communication, inadequate diagnostic tools, and time constraints are systemic factors that contribute to misdiagnosis. For example, fragmented medical records in healthcare systems can result in incomplete information, leading to diagnostic oversights.

Complexity of Diseases

Certain conditions, such as autoimmune disorders, present with nonspecific symptoms that mimic other illnesses, increasing the likelihood of misdiagnosis. Similarly, rare diseases are frequently misdiagnosed due to a lack of awareness among healthcare providers.