Chronic fatigue syndrome – underdiagnosed or misdiagnosed?

As a population, we are either being underdiagnosed or misdiagnosed. Chronic fatigue syndrome (CFS) is, after all, a label given to those whose chronic tiredness and other symptoms do not fall under any other diagnosis.

There are published estimates stating that from 0.25% to 2.54% of the population may well have been misdiagnosed. The lower figure comes from UK research and the upper figure from the USA. This means the number of sufferers here in the UK could be closer to 1.6 million people rather than the suggested 150,000. It is possible that CFS is underdiagnosed in more than 80% of the people who have it, or is often misdiagnosed as depression.

The main problems in diagnosis are:

1. There is no specific test for CFS
2. Conditions that share the main symptoms of CFS are possibly also being underdiagnosed
3. Underlying causes are not established
4. There are no drugs to treat CFS so little money goes into research

The guidelines for governing diagnosis are by symptoms only. A person must have fatigue lasting more than six months and have at least four symptoms from specific lists (see: http://www.mayoclinic.org/diseases-conditions/chronic-fatigue-syndrome/basics/tests-diagnosis/con-20022009

Some practitioners are concerned that almost half of patients referred from primary care with a diagnosis of ME/CFS, actually have something else wrong with them.

Are we dealing with ‘misdiagnosis on a grand scale’?  Many conditions causing fatigue are identifiable, such as anaemia, low vitamin B12, low vitamin D and low thyroid, (although I consider that under-diagnosis of these is common too, due to practitioners assuming that a result in the reference range is in fact in the ‘population range’ and is not, as is commonly stated, necessarily ‘normal’ for any individual).

Symptoms of CFS mirror many conditions. There is little doubt that more studies about CFS manifestations, evaluation and management are needed.

At this time, conventional therapy for CFS is based on Cognitive Behavioural Therapy (CBT), graded exercise therapy, activity management (involving the setting of individual goals and gradually increasing your activity levels) and an inference that much of the problem is in the mind. When medication is considered, it is generally symptomatic such as painkillers or antidepressants.

Diet and supplements are rarely considered despite strong evidence of efficacy.

There is evidence of benefit from therapy for mitochondrial dysfunction, (failure of cells to turn oxygen and sugar into energy due to faulty mitochondria) but investigations are not utilised.

I personally recommend a range of functional medicine tests for patients with CFS to identify the underlying cause(s) so that therapy can be individualised. Genetic, immunologic, infectious, metabolic (especially mitochondrial dysfunction), and neurologic aetiologies are all capable of affecting energy production. Bowel inflammation and flora imbalance is also a cause of CFS but rarely investigated nor treated despite many research papers (https://scholar.google.co.uk/scholar?q=chronic+fatigue+syndrome+gut+flor…)

Natural therapies including high dose supplementation, intravenous nutritional replenishment, mitochondrial therapy, bioidentical hormone therapy and botanical/herbal should be utilised in combination with life-style, exercise, dietetic and complementary and alternative therapies

References

1. Chronic Fatigue Syndrome Epidemiology. http://www.news-medical.net/health/Chronic-Fatigue-Syndrome-Epidemiology…
2. Reeves, et al, Popul Health Metr. 2007; 5: 5  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1904178/
3.  http://www.mayoclinic.org/diseases-conditions/chronic-fatigue-syndrome/basics/tests-diagnosis/con-20022009
4. Dr Neil Abbot Breakthrough magazine, Autumn 2012.http://www.meresearch.org.uk/information/publications/misdiagnosis-on-a-grand-scale/
5. James P. Griffith, M.D., F.A.C.P. and Fahd A. Zarrouf,D. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2292451/
6. Guidelines for the diagnosis and treatment of cobalamin and folate disorders Vinod Devalia, Malcolm S. Hamilton, and Anne M. Molloy on behalf of the British Committee for Standards in Haematology. BMJ. 2006 Aug 19;333(7564):385-6.
7. Regland B et al  https://www.ncbi.nlm.nih.gov/pubmed/25902009
8. Dr. med. Anna Dorothea Hoeck, MD. https://iacfsme.org/PDFS/Attachment-E-Annedore-Hoeck,-Vitamin-D.aspx
9. Booth et al, Mitochondrial dysfunction and the pathophysiology of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS). Int J Clin Exp Med. 2012;5(3):208-20. Epub 2012 Jun 15.