Most Misdiagnosed Diseases

Most Misdiagnosed Illnesses

It can be quite common that patients having symptoms may not align directly with one disease or another. It can be difficult to pinpoint a specific diagnosis without extensive detective work on the doctor’s behalf; and often times, multiple tests need completed to rule out other potential issues before coming to a conclusion. Diseases may also commonly exhibit the same set of symptoms, making diagnosis even more complicated. Many patients suffer from ailments that are hiding behind other symptoms and then left untreated or undiagnosed for years to come.

This process can be extremely frustrating for patients that are suffering. It’s scary to think that a potentially life-threatening disease can go undetected and undiagnosed for years, especially when early detection is the key to successful recovery. In this article, I have five five of the most misdiagnosed diseases, to better inform you on the symptoms that can be tricky to diagnose.


Misdiagnosed Disease # 1: Multiple Sclerosis

Multiple sclerosis is both underdiagnosed and overdiagnosed.

According to an OHSU study, the misdiagnosis (in these situations over-diagnosed) of multiple sclerosis is costing millions of dollars each year and is more common than one would think. The study was based on a survey of 122 multiple sclerosis specialists nationwide, which found that 95 percent of the specialists had “seen at least three patients within the past year who they believe had been misdiagnosed.”

A large number of these patients according to the survey had already begun disease-modifying therapy, which could have harmful side effects on their health; also carrying high costs (“often at least $40,000 per patient, per year”). This misdiagnosis also carries a large emotional burden for patients and physicians alike. More than two-thirds of the surveyed physicians report that informing a patient they could potentially not have MS, was more difficult than informing a patient of a new diagnosis.

What is MS?

Multiple Sclerosis is the most widespread disabling neurological condition of young adults in the world. It is an autoimmune disease. MS may develop at any age, most commonly between ages 20-40 years old. Risk factors include: genetics and gender (females 2:1), however individuals with type 1 diabetes, thyroid disease, and inflammatory bowel disease have a slightly increased risk. MS is not considered an inheritable disorder, but it is widely accepted that there is a genetic predisposition to developing it. MS is not contagious and researchers are still unsure as to the exact causes of the disease. There are three types of MS:

Relapsing-Remitting MS (RRMS) – Characterized by clearly defined relapse periods with increased disease activity and worsening symptoms. During periods of remission, the symptoms may improve or disappear and the disease does not progress during these times.

Primary-Progressive MS (PPMS) – This type is diagnosed in about 10 percent of MS patients at onset. PPMS is characterized by a steady progression of the disease. Unlike RRMS there are no clear remissions or relapses. Symptoms usually begin between ages 35 and 39, with equal rate between men and women.

Pregressive-Relapsing MS (PRMS) – Represented in approximately five percent of patients, PRMS is the rarest form of MS. This form is a combination of relapse and remissions, coupled with a steady progression of the disease.

The most common early symptoms of MS are:

  • fatigue
  • vision problems
  • tingling and numbness
  • vertigo and dizziness
  • muscle weakness and spasms
  • problems with balance and coordination

Other, less common, symptoms include:

  • speech and swallowing problems
  • cognitive dysfunction
  • difficulty with walking
  • bladder and bowel dysfunction
  • sexual dysfunction
  • mood swings, depression

Currently, there is no cure for MS. Because of the variety of symptoms, coupled with the periods of remission; it can be a very difficult disease to diagnose. Depending on the number of lesions on the brain, symptoms can be more or less severe in different people. Presently, the only way to confirm an MS diagnosis is to perform a spinal tap or MRI.


Misdiagnosed Disease # 2: Depression

Doctors often struggle with diagnosis of depression, due to the comprehensive nature and varying symptoms involved. Typically characterized by sadness, anxiety and irritability, people with depression may also show symptoms of chronic fatigue, sleep disorders, and problems with concentration. The vague nature of these symptoms alone makes it hard to pin down the true cause. These symptoms also overlap with other disorders such as bipolar disorder, general anxiety, and post-traumatic stress disorders.

Diagnosis of Depression

Due to the complicated nature of diagnosis, patients suspected of depression must have a full comprehensive physical exam. It’s also important that the doctor knows complete medical history in order to see the full picture, and to help rule out other potential problems or diseases. In recent studies, physicians looking for depression “made more misidentifications (false positives of depression) than the number of depressions they correctly diagnosed, following an initial consultation.” With the average office call in the United States lasting only about eight minutes, it is not surprising.

Depression Misdiagnosed

This also indicates that the criteria to diagnose depression might need to be re-evaluated. According to the DSM, “diagnosis of major depression requires the presence (for two weeks) of at least five possible symptoms of a list of nine.” Including, but not a comprehensive list: sadness, loss of interest in usual activities, lowered appetite, fatigue, and insomnia. Patients may exhibit some of these symptoms in reaction to a major life event or normal sadness, which then leads to being diagnosed with major depression. In order to be properly diagnosed as depressed, a patient must also exhibit “a specified minimal ‘clinically significant’ threshold in the form of harm due to distress or role impairment”.

There is much debate over these criteria. Often, physicians are quick to diagnosis patients and prescribe medication prematurely. Most importantly, make sure your doctor understands your complete medical history and is fully aware of the symptoms that you exhibit. With more information presented, the doctor is able to make a better diagnosis and avoid prescribing unnecessary medication. Taking medications for a disease that is misdiagnosed can lead to unwanted side effects and potentially dangerous symptoms.


Misdiagnosed Disease #3: Migraines/Cluster Headaches

Headache disorders are often misunderstood, and even more often misdiagnosed. Migraines can vary in severity with symptoms depending on the individual. Symptoms of migraines include:

  • throbbing or pulsing
  • nausea
  • vomiting
  • sensitivity to light and sound

Other headache disorders such as cluster headaches are much less common but extremely painful. Cluster headaches affect less than 1 million Americans and can be debilitating if left untreated. These headaches are characterized by cyclical patterns or clusters of the most painful headaches. Bouts of these attacks may last weeks to months and are then followed by remission periods when headache attacks stop completely. These headaches are not life threatening. Treatments can reduce the occurrence and severity of attacks.  As with any medical problem, your doctor should attempt to find the root cause.

Doctors Commonly Misdiagnose Migraines as Sinusitis

Studies show that patients recruited (total of 130) with diagnosed migraine headaches were misdiagnosed as having sinusitis 81.5% of the time. Results showed that with proper treatment and diagnosis, the patients improved their symptoms by 68.9%. This shows that strict criteria are needed for proper diagnosis and to not delay migraine treatment. Cluster headaches typically occur at the change of seasons, which can further confuse the symptoms with sinusitis.

Proper Diagnosis of Migraines

Tests can be done to rule out other serious conditions or unusual/abnormal neurological examinations. Tests to order depend on the results of your neurological exam and comprehensive blood testing, but may include a CT scan (which provides a series of X-rays of your brain) or an MRI (which uses magnetic fields to show blood vessels and images of the brain).  Before a diagnosis of migraine headaches can be made, other causes of headaches must be ruled out.


Misdiagnosed Disease #4: Heart Attack, Especially in Women

As you know, one of the most dangerous threats to both men and women is a heart attack. It is often misdiagnosed due to the variation of symptoms in individuals.

According to a 2014 study, women having heart attacks are more likely to be misdiagnosed because they often don’t experience the classic symptom of chest pain. The study, lead by the Research Institute of McGill University Health Centre, reports that patients visiting the emergency room with atypical symptoms, or multiple risk factors, had longer treatment delays. They found that “both men and women with feminine character traits were less likely to receive timely care than patients with masculine traits.” This study indicates that specific evaluation of patients should be required for those individuals that don’t exhibit the typical symptoms associated with a heart attack.

Symptoms of a Heart Attack

According to the American Heart Association, symptoms of a heart attack in women may include:

  • Uncomfortable pressure, squeezing, fullness or pain in the center of your chest. It lasts more than a few minutes, or goes away and comes back.
  • Pain or discomfort in one or both arms, the back, neck, jaw or stomach.
  • Shortness of breath with or without chest discomfort.
  • Other signs such as breaking out in a cold sweat, nausea, or light-headedness.
  • As with men, women’s most common symptom is chest pain or discomfort. However, women are somewhat more likely than men to experience some other common symptoms, particularly shortness of breath, nausea/vomiting, and back or jaw pain.

Women are more likely to disregard symptoms and chalk it up to something less threatening like acid reflux or the flu. Medical Director for the Joan H. Trisch Center for Women’s Health at NYU, Niece Goldberg, M.D., states that “(Women) do this because they are scared and because they put their families first.” Goldberg also states that many women she sees never call 9-1-1 if they believe they are suffering a heart attack.

Early detection and treatment is crucial to the successful recovery of heart attack. Any individual believed to be suffering a heart attack should seek emergency help immediately. The best thing to do is call 9-1-1.

For more information about how to reduce heart attack risk, visit


Misdiagnosed Disease #5: Celiac Disease

According to the Celiac Foundation, “Celiac disease is an autoimmune disorder that can occur in genetically predisposed people where ingestion of gluten leads to damage in the small intestine.” It’s estimated to affect 1 in 100 people worldwide and also estimated to affect two and one-half million undiagnosed Americans. Individuals with Celiac disease cannot properly digest or tolerate gluten, a protein in wheat, rye, and barley. Many products contain gluten including some medicines, vitamins and even lip balm. When individuals with celiac disease eat or use products or foods containing gluten, the immune system attacks the villi in the small intestine.

Without healthy villi, a person becomes malnourished because the small intestine cannot absorb the nutrients through the walls and into the bloodstream. Many individuals suffer without knowing they have celiac disease. Doctors often mistake celiac disease for irritable bowl syndrome, lactose intolerance, or constipation. This leads to prescriptions of pain killers or laxatives to treat preliminary symptoms.

With over 300 known symptoms, diagnosis is extremely hard and sometimes patients show no symptoms at all. Symptoms in infants and children are often different than those in adults. Symptoms in children may  include:

  • abdominal bloating and pain
  • chronic diarrhea
  • vomiting
  • constipation
  • pale, foul-smelling, or fatty stool
  • weight loss
  • fatigue
  • irritability and behavioral issues
  • dental enamel defects of the permanent teeth
  • delayed growth and puberty
  • short stature
  • failure to thrive
  • Attention Deficit Hyperactivity Disorder (ADHD)

Adults experiencing symptoms rarely exhibit diarrhea, and are more likely to have the following:

  • unexplained iron-deficiency anemia
  • fatigue
  • bone or joint pain
  • arthritis
  • bone loss or osteoporosis
  • depression or anxiety
  • tingling numbness in the hands and feet
  • seizures or migraines
  • missed menstrual periods
  • infertility or recurrent miscarriage
  • canker sores inside the mouth
  • an itchy skin rash called dermatitis herpetiformis

What Happens if Celiac Disease is Left Untreated?

With any disease, if left untreated it can produce harmful health effects on the body and lead to many more complications. Individuals at any age can develop celiac disease and it is hereditary. When individuals start to eat foods or medicines that contain gluten, symptoms can start to occur in the body. If left untreated, development of autoimmune disorders like Type 1 diabetes, multiple sclerosis, dermatitis herpetiformis, anemia, osteoporosis, infertility, neurological conditions, short stature, and intestinal cancers may occur.

If you are exhibiting symptoms above, you will want to be tested for Celiac disease. Blood tests are commonly used to make to detect if you are producing celiac-related antibodies. A colonoscopy with biopsies is also commonly done. If diagnosed, avoiding gluten is necessary.

Probiotic Formula Dr Maxwell Diamond Nutritionals

In my patients with Celiac disease, I also recommend a high quality probiotic supplement to help heal any damage caused by the prolonged gluten exposure. I recommend Diamond Nutritionals’ Probiotic Formula accompanied by Foundation Vitamin Formula, a balanced vitamin and mineral supplement. These supplements are gluten free and provide a wide variety of support to help heal the body and provide balance for overall health and wellness.

Photo credits:

  1. Sodanie Chea / CC BY 2.0
  2. Diamond Farah / CC BY-ND 2.0


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