Hardest diseases to diagnose

Some conditions and diseases have definitive tests and unique symptoms, making them easy for medical professionals to diagnose. However, others have more common and convoluted symptoms, meaning they may be overlooked by doctors. These are the hardest diseases to diagnose.

Sleep apnoea
Sleep apnoea is a condition where your breathing stops and starts in your sleep, disrupting a good night’s rest. It may cause you to feel tired, irritable and foggy headed. It can also cause a dry mouth, sore throat, headaches and weight gain. As it is difficult to monitor your own activity at night, a diagnosis will require a sleep study in which your heart rate, brain activity, breathing and snoring are monitored.

Irritable bowel syndrome (IBS)
Symptoms of IBS include cramping and pain in the lower abdomen, diarrhoea, constipation, gas, bloating, fatigue and a change in bowel movements. To be diagnosed with IBS, your doctor will first have to eliminate the possibility of coeliac disease, lactose intolerance, a bacterial infection or parasite. As the triggers of irritable bowel syndrome may differ for each person, it can be hard to diagnose.

Coeliac disease
The symptoms of coeliac disease include fatigue, weight loss, diarrhoea, rashes, headaches, joint aches, depression and even seizures. When a person with coeliac disease eats even a small amount of gluten a faulty immune response is triggered, affecting the digestive tract.  These symptoms are common side-effects of other diseases, such as IBS, Crohn’s disease and ulcers, so it may be hard for your doctor to diagnose. An intestinal tissue test is required for diagnosis.

This condition causes fatigue, widespread pain and tenderness in the body, difficulty with memory, concentration and sleep. There is currently no cure for fibromyalgia, and its cause is not yet understood. A diagnosis will involve the elimination of all other possible causes.

Multiple sclerosis (MS)
MS causes your immune system to attack the protective coverings on some nerve endings. Symptoms include feeling tired, weak, dizzy, depressed and it may cause vision problems. Tests of spinal fluid and imaging scans may be used to assist diagnosis.

This occurs when your thyroid, a gland in your neck, produces too much of a hormone called thyroxine. The symptoms of hyperthyroidism include feeling anxious, nervous and irritable, so may be mistaken for a mood disorder. Additional symptoms such as excessive sweating, weight loss or a fast heart rate may help to diagnose hyperthyroidism. A diagnosis will require a blood test.

Alternatively, if your thyroid is not producing enough thyroxine you may experience fatigue, weight gain, thinning hair, increased sensitivity to temperature and a change in bowel movements. Many of these symptoms could have other causes, so a blood test is required for your doctor to diagnose hypothyroidism.

Parkinson’s disease
Currently no laboratory tests can definitively diagnose Parkinson’s disease, meaning that it may take years for your doctor to make a diagnosis. Your doctor may test your coordination, reflexes and muscle strength alongside an MRI. They will also have to rule out other potential causes for your symptoms. Most people with Parkinson’s disease are diagnosed around the age of 65, however one in every 10 are diagnosed before the age of 45.

Chronic fatigue syndrome
There is no test to diagnose chronic fatigue, so your doctor will need to rule out the possibility of other conditions. Symptoms include muscle pain, headaches, trouble concentrating, sleep problems, muscle pain and feeling fatigued for six months or more for no other reason. According to WebMD, these are also symptoms of insomnia, thyroid problems, sleep apnoea, diabetes and other conditions.

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Disclaimer: This article contains general information about health issues and is not advice. For health advice, consult your medical practitioner.

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Written by Liv Gardiner


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