Top Ten Health Conditions That Are Easily Misdiagnosed

An accurate diagnosis is the cornerstone of medicine and the basis for any treatment. Nonetheless, a misdiagnosis can happen to any clinician due to a variety of issues, including overlapping symptoms or referencing an incomplete medical history. Let's look at a quick case study to consider the challenges and potential outcomes of a misdiagnosis.

Sarah, a 45-year-old teacher with no significant medical history, noticed a lump in her right breast during a self-examination. Her primary care physician determined it was a benign cyst and diagnosed her with fibrocystic breast changes, advising monitoring without further imaging or biopsy. Over the next six months, the lump grew, and Sarah experienced fatigue and weight loss, prompting a return visit. A mammogram and subsequent biopsy were ordered, revealing stage II breast cancer. The delay in proper diagnosis led to more aggressive treatments, including surgery, chemotherapy, and radiation therapy, significantly increasing Sarah's physical, emotional, and financial burden.

As every clinician knows (and fears), the consequences of a misdiagnosis can be profound, leading to inappropriate treatments, delayed care, and unnecessary procedures. Most importantly, a misdiagnosis can lead to delays in life-saving interventions, which makes questioning diagnostic assumptions and remaining vigilant essential to clinical care. All diagnosticians should be willing to reconsider a diagnosis, especially when symptoms evolve, or treatments aren't producing the expected results. In addition, making sure the proper tests have been requested, patient histories are complete, and reaching out for second opinions will reduce the likelihood of a misdiagnosis. 

Let's look at the top ten health conditions that are the easiest to misdiagnose.

Cancer

Some forms of cancer have complex symptoms that can mimic and overlap with other conditions, such as fatigue, weight loss, or mild pain, and can be misattributed to more common ailments. Imaging tests, biopsies, or lab results don't always provide a clear indication, leading to uncertainty or incorrect diagnoses. The type of cancer can also be misdiagnosed due to similarities in cellular structures when examined under a microscope.

Certain kinds of cancer are prone to misdiagnosis. Breast cancer, for example, is often confused with benign breast conditions like cysts or fibrocystic changes. Lung cancer can be mistaken for respiratory infections or chronic obstructive pulmonary disease (COPD), particularly in smokers or individuals with long-term lung issues. Colorectal cancer symptoms, such as abdominal discomfort or changes in bowel habits, can be misattributed to irritable bowel syndrome (IBS) or even hemorrhoids. Prostate cancer, which is common in older men, may be mistaken for benign prostatic hyperplasia (BPH), a non-cancerous enlargement of the prostate. Similarly, bladder cancer shares several symptoms with urinary tract infections (UTIs) or bladder stones, complicating its diagnosis.

Heart Attacks

Misdiagnosis of heart attacks or myocardial infarctions is often due to atypical symptoms. Classic heart attack symptoms, which include chest pain, shortness of breath, and radiating arm pain, are well-known; however, some patients experience less classical symptoms, which might lead to misdiagnosis. These atypical symptoms include nausea, fatigue, dizziness, indigestion, temperature fluctuations, and jaw and back pain. These signs can easily be mistaken for conditions like acid reflux, anxiety, or musculoskeletal issues, delaying life-saving treatment.

Gender also plays a role in the misdiagnosis of heart attacks, with women more likely to present with non-traditional symptoms, leading to under-recognition in clinical settings. Women also tend to experience more subtle warning signs and are often dismissed or misdiagnosed as having anxiety, stress-related conditions, or being related to menopause. Age is another factor, with younger people less likely to be suspected of having a heart attack, which can cause healthcare providers to overlook a heart attack diagnosis in younger adults, attributing symptoms to other conditions.

Strokes have a wide range of symptoms, and their potential overlap with other medical conditions, so they're often misdiagnosed. Classic stroke symptoms include sudden numbness or weakness on one side of the body, slurred speech, confusion, and vision problems. However, some strokes present with less obvious signs like dizziness, headache, nausea, or disorientation. These symptoms mirror other conditions, such as migraines, vertigo, or anxiety attacks. 

Several factors contribute to stroke misdiagnosis. One issue is the subtlety and transiency of early symptoms, particularly in cases of mini-strokes (transient ischemic attacks). These symptoms resolve quickly and are often overlooked. 

As with heart attacks, gender and age play a role in stroke misdiagnosis. Women are more likely to experience atypical symptoms, such as generalized weakness, fainting, or fatigue, often attributed to stress or dehydration. Younger patients may be less likely to be diagnosed with a stroke, with their symptoms attributed to other issues such as anxiety or migraines. 

Depression

Depression presents differently in individuals, with diagnosis complicated by overlapping symptoms with other mental health conditions. Common symptoms include persistent sadness, fatigue, irritability, difficulty concentrating, and changes in sleep or appetite. The difficulty is these symptoms are not unique to depression and can occur in other mental health disorders, which makes the diagnosis challenging.

Conditions like anxiety disorders, bipolar disorder, and post-traumatic stress disorder (PTSD) share many symptoms with depression. For example, both anxiety and depression can lead to restlessness, difficulty focusing, and disrupted sleep, making it hard to distinguish between the two without a thorough assessment. In bipolar disorder, depressive episodes can resemble major depressive disorder (MDD), but the presence of manic or hypomanic episodes, although these episodes may not immediately be evident.

There are also a range of physical health conditions, including hypothyroidism, chronic fatigue syndrome, or vitamin deficiencies that can mimic depression. Healthcare providers must take a comprehensive approach to avoid errors, considering medical history, symptom patterns, and possible underlying conditions. There are also a range of different tools available to assist in the diagnosis of depression.

Thyroid Conditions

Thyroid conditions, particularly hypothyroidism and hyperthyroidism, can be misdiagnosed as they have a broad range of symptoms that mirror other common conditions like depression. The thyroid gland and hormones have a significant role in regulating metabolism, energy levels, and bodily functions. Abnormalities in the gland and hormones often cause symptoms like fatigue, weight changes, mood disturbances, and cognitive difficulties. These symptoms frequently overlap with mental health disorders like depression, leading to misdiagnosis.

In hypothyroidism, the thyroid is underactive, leading to fatigue, low energy, weight gain, and feelings of sadness or apathy. Hyperthyroidism is where the thyroid is overactive and may cause anxiety, restlessness, irritability, and insomnia.

Diagnosing thyroid conditions is complicated because the symptoms develop gradually and are often attributed to lifestyle factors, stress, or aging. Blood tests measuring thyroid hormone levels are essential for accurate diagnosis but won't get ordered unless there's a clear suspicion of thyroid dysfunction.

Appendicitis

An appendicitis misdiagnosis occurs because the symptoms are similar to benign conditions, like the flu, indigestion, or food poisoning. The primary symptom of appendicitis is abdominal pain, which begins near the belly button and then shifts to the lower right side of the abdomen. However, this pain is often mild initially to the extent it's mistaken for gastrointestinal discomfort caused by indigestion or gas. Other symptoms like nausea, vomiting, loss of appetite, and mild fever are common illnesses, such as viral infections or food poisoning, making it difficult for healthcare providers to identify appendicitis early on.

The variability of symptoms further complicates diagnosis. In some cases, the classic sharp pain in the lower right abdomen may not be present, with a more diffuse pain being present. Additionally, symptoms can fluctuate, with some patients experiencing intermittent symptoms, leading to further misinterpretation.

Because appendicitis can rapidly progress to a medical emergency if the appendix bursts, delays in diagnosis can be dangerous. Therefore, careful assessment, including imaging tests like ultrasounds or CT scans, is essential when abdominal pain is persistent or severe.

Multiple Sclerosis

Multiple sclerosis (MS) has a range of symptoms that overlap with several other conditions, including migraines, fibromyalgia, and various neurologic disorders. MS is an autoimmune disorder that affects the central nervous system. It can cause a variety of symptoms, including fatigue, numbness, muscle weakness, vision problems, incontinence, and cognitive difficulties. Further complicating diagnosis is that these symptoms vary greatly in severity and presentation, making it difficult to differentiate from other conditions.

MS shares many similarities with migraines, especially migraines with an aura. Both conditions can cause headaches, dizziness, and visual or sensory changes. Similarly, fibromyalgia shares symptoms like fatigue, pain, and cognitive deficiencies, which overlap with MS, especially in the early stages. Because there is no single definitive test for fibromyalgia, its diagnosis is often based on symptoms alone, leading to potential confusion.

Neurologic disorders like stroke or even peripheral neuropathy can also mimic MS, with symptoms such as numbness, tingling, or motor weakness. MRI scans may reveal brain lesions in MS and other neurologic conditions, making diagnosis more difficult. A thorough neurological evaluation – including an MRI, lumbar puncture, and blood tests – is essential if MS is a possible diagnosis.

Celiac Disease

Celiac disease has a wide range of gastrointestinal symptoms, which are similar to conditions like irritable bowel syndrome (IBS), gluten intolerance, and various gastrointestinal disorders. Celiac disease is an autoimmune disorder triggered by ingesting gluten that causes an immune reaction that damages the lining of the small intestine, leading to inflammation, nutrient malabsorption, and a number of both digestive and non-digestive symptoms.

Patients with celiac disease experience abdominal pain, bloating, diarrhea, and fatigue. These symptoms are also common in IBS. As IBS is more prevalent, many patients are incorrectly diagnosed with IBS, delaying the proper diagnosis of celiac disease. Similarly, gluten intolerance, or non-celiac gluten sensitivity, presents with digestive issues after consuming gluten but lacks the autoimmune component and intestinal damage seen in celiac disease, leading to confusion, as both conditions improve with a gluten-free diet.

Other gastrointestinal disorders, such as Crohn's disease or lactose intolerance, can produce similar symptoms, adding to the diagnostic challenge. Blood tests for specific antibodies and intestinal biopsies are essential for diagnosing celiac disease.

Carpel Tunnel Syndrome

Carpal tunnel syndrome (CTS) occurs when the median nerve is compressed as it passes through the carpal tunnel in the wrist, leading to symptoms such as numbness, tingling, weakness, and pain in the hand and fingers, particularly the thumb, index, and middle fingers. Carpal tunnel syndrome has symptoms that overlap with other conditions that affect the nerves, such as thoracic outlet syndrome (TOS), tendinitis, or cervical radiculopathy, leading to difficulty in diagnosis.

Differentiating between carpal tunnel syndrome and thoracic outlet syndrome is vital. CTS involves compression of the median nerve at the wrist. In contrast, TOS involves compression of nerves or blood vessels in the neck and shoulder area, leading to similar symptoms like numbness, tingling, and weakness in the arms and hands. The difference is that TOS symptoms may extend further up the arm or into the shoulder and neck, whereas CTS is more localized to the hand and wrist.  To properly diagnose CTS, providers should perform nerve conduction studies or electromyography to pinpoint the location of the nerve compression and undertake the proper treatment.

Lyme Disease

Lyme disease has a range of non-specific symptoms and varying clinical presentations, similar to other conditions. It's caused by the Borrelia bacteria and transmitted through tick bites. Typical symptoms include fatigue, joint pain, headaches, and neurological issues. These symptoms can be vague and may develop gradually.

Common misdiagnoses include fibromyalgia and chronic fatigue syndrome (CFS), both of which also feature fatigue, muscle pain, and cognitive difficulties. As Lyme disease often has a "bull's-eye" rash, its absence can contribute to misdiagnosis. The associated neurological symptoms may lead to a misdiagnosis of MS or other autoimmune disorders.

Conclusion

The commonality of misdiagnoses highlights the critical need for heightened awareness and proper diagnostic practices in healthcare. Patients often present with symptoms that can overlap with other conditions, leading to confusion and delayed treatment. It's essential for providers to engage in thorough diagnostic evaluations and encourage open discussions with their patients about any concerns. By fostering a collaborative approach with patients, healthcare professionals can ensure accurate diagnoses and appropriate treatments, ultimately improving patient health outcomes.

Resources

• https://www.ncbi.nlm.nih.gov/books/NBK338594/
• https://www.ncbi.nlm.nih.gov/books/NBK555525/
• https://clinicalconnection.hopkinsmedicine.org/news/johns-hopkins-medicine-researchers-identify-health-conditions-most-likely-to-cause-serious-harm-when-misdiagnosed
• https://www.heart.org/en/health-topics/heart-attack/warning-signs-of-a-heart-attack/heart-attack-symptoms-in-women
• https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3690001/
• https://www.patientclaimline.com/article/what-is-misdiagnosis-and-how-bad-is-it-really/
• https://jamanetwork.com/journals/jama/article-abstract/2807896
• https://www.osmosis.org/learn/Myocardial_infarction
• https://www.osmosis.org/learn/Stroke:_Clinical_practice
• https://www.osmosis.org/learn/Major_depressive_disorder
• https://www.apa.org/depression-guideline/assessment
• https://www.osmosis.org/learn/Thyroid_hormones
• https://www.osmosis.org/learn/Appendicitis
• https://www.osmosis.org/learn/Multiple_sclerosis_(MS):_Nursing
• https://www.osmosis.org/learn/Celiac_disease:_Clinical_sciences
• https://www.osmosis.org/learn/Carpal_tunnel_syndrome
• https://www.osmosis.org/learn/Thoracic_outlet_syndrome:_Year_of_the_Zebra
• https://www.osmosis.org/learn/Lyme_disease:_Clinical_sciences