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December 14, 2016

5 Commonly Misdiagnosed Diseases and How to Spot Them


3143212589_c1b633b1d4_z.jpgThere are thousands of diseases that have been discovered in the last 100 years, and while on the whole this means we are living longer and healthier lives, it also means that the process of diagnosing someone with the correct condition is a lot more complex than it used to be. For every symptom, there are several, maybe even hundreds, of diseases can fit it, depending on the accompanying symptoms. This means piecing together the different signs and symptoms of a patient, together with context and family history, can quickly become a near-impossible task when a doctor is asked to simply call upon his own knowledge in the entire field of medicine.

There are some diseases which are even harder to diagnose, and easier to miss. These tend to either be rare diseases that can be mistaken for more common and often less severe conditions, or they are common diseases that have similar symptoms to several other diseases, and spotting which disease the patient has can be difficult. This is made more complicated when the treatments for those diseases are significantly different to each other, and using the wrong treatment for the wrong disease can make things worse.

We have put together 5 commonly misdiagnosed diseases, and outlined their symptoms, particularly the defining symptoms that can help determine their diagnosis above other possiblities. Their severity ranges from easily curable to life threatening and everything in between, and as with most diseases, a patient’s chances are greatly improved if you can catch the condition quickly. Some of them are rare diagnoses that unfortunately don’t get considered at the point of diagnosis, and some are more common conditions that are too often overlooked.

1) Sepsis

We have blogged about sepsis many times, from the tragic case of William Mead last January, to the announcement of a sepsis awareness campaign from UK health secretary Jeremy Hunt. Sepsis is the leading cause of avoidable death in the UK, and it escalates very quickly if not spotted. The disease is directly caused by a reaction to a primary infection, meaning the patient is already ill with something else when the sepsis, also known as blood poisoning, takes hold. This makes it a very difficult thing to diagnose, as other symptoms from the initial infection can cloud judgement. For a lot more information on the disease you can read our blogpost for World Sepsis Day 2016, but below are the classic symptoms to look out for if a patient is already ill and their condition suddenly deteriorates:

  • Weakness
  • Fever and chills
  • Dizziness, extreme nausea and vomiting
  • Loss of appetite
  • Thirst
  • Difficulty breathing or rapid breathing
  • Rapid heart rate
  • Altered or confused state of mind

2) Lupus

Lupus, or systemic lupus erythematosus, is an autoimmune disease, which is often genetic and mostly found in females. The initial symptoms are similar to those of joint and muscle conditions such as muscular dystrophy or multiple sclerosis, so is often misdiagnosed as these more well known conditions. However, because it is genetic and also often triggered by hormonal changes like pregnancy or menopause, a few contextual questions can help highlight or eliminate it from your differential diagnosis. The Lupus UK website has some brilliant resources for more information on this disease. The two symptoms to look out for, that are always present in patients suffering from Lupus are:

  • Joint and muscle pain
  • Extreme fatigue

As well as these two symptoms, patients can experience any of the following:

  • Rashes anywhere on the body
  • Anaemia
  • Miscarriages, especially repeatedly
  • Feverishness
  • Headaches
  • Hair Loss

3) Lyme Disease

This is another disease which we have blogged about before, and we see a lot of stories come out with misdiagnoses of this condition. What’s important in the diagnosis of Lyme Disease is knowing your patient’s travel history. Lyme Disease is caused by being bitten by an infected tick, but the ticks are mostly found in woodland and heath areas, so you are more at risk in certain parts of the US and UK. Once treated, a patient usually has a full recovery, but it can be a long process, with symptoms continuing for up to six months after treatment. Signs and symptoms are:

  • Pain and swelling in the joints
  • Numbness or pins and needles in the limbs
  • Partial paralysis of the face
  • Severe headaches, particularly towards the neck, and neck stiffness
  • Tiredness

4) Cancer

This is the arguably the most well known disease out there, with new statistics showing 1 in 2 people will have some form of cancer in their lifetime. However, there are many different types of cancer depending on the location in the body, the type of tumour, and other factors such as genetics. What’s more, a lot of cancers show little or no symptoms, and the symptoms shown can be easily mistaken for many other conditions. Symptoms vary greatly depending on the where the cancer is, but the best chance of diagnosing cancer is when the patient know's their own body, and can see if anything changes. Following this, it is critical a patient has the confidence to get it checked out, however small the issue; all cancers are much easier to treat if caught early. Things to look out for are:

  • Hard, painless lumps, particularly on the breasts or testes
  • Unusual moles or skin marks that are new
  • Breathlessness
  • Persistent Cough
  • Cuts, ulcers and sores that won’t heal
  • Unusual blood, either in your urine, stools, phlegm, or anywhere else it isn’t normally
  • Unexplained pain or ache

5) Celiac Disease

Celiac disease is an autoimmune disease wherein the body mistakenly attacks gluten, thinking it is a threat to the digestive system. Although less severe and time-sensitive than some of the other entries above, celiac disease is very often overlooked, meaning uncomfortable and sometimes life altering symptoms can continue for months or even years with no change, whilst other pointless and intrusive options are exhausted. When treatment for celiac disease is as simple as cutting out gluten and waiting for an improvement, it really is worth bearing in mind when diagnosing a digestive condition. Symptoms for celiac disease include:

  • Diarrhea, which may smell particularly unpleasant
  • Bloating and flatulence
  • Abdominal pain or cramps
  • Weight loss

It is critical that we improve diagnosis across healthcare, and knowing what to look out for in these commonly misdiagnosed diseases could help reach a correct diagnosis quickly. Differential Diagnosis Generators like the Isabel DDx Generator are also vital in flagging up those often overlooked conditions. For more information on why we should be improving diagnosis, read our newly updated whitepaper "Why and How to Improve Diagnosis Decision Making" from the Isabel website:


Image attribution:
"Diseases" (CC BY-NC-ND 2.0) by n8kowald
Mandy Tomlinson

Mandy Tomlinson

Mandy has worked for Isabel Healthcare since 2000. Prior to this, she was a Senior Staff Nurse on the Pediatric Infectious disease ward and high dependency unit at one of London's top hospitals, St Mary’s in Paddington which is part of Imperial College Healthcare NHS Trust. Her experience in the healthcare industry for the past 28 years in both the UK and USA means she's a vital resource for our organization. Mandy currently lives and works in Scottsdale, Arizona.


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