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"Research" - looking for delayed diagnosis manifesting as MUS.

RogerBlack

Senior Member
Messages
902
To follow on from the hype around "medically unexplained syndromes".
Is anyone aware of publications around delay in diagnosis where the patient presents to the GP with 'nonspecific' symptoms (or ones the GP doesn't know), or post-mortem diagnosis of disease, where the symptoms last >6 months.

Ideally uncontroversial organic diseases, with objective tests your GP would understand, look up, see the symptoms, and be entirely happy with accepting as the cause of your mysterious symptoms.

I've been unable to find such on pubmed despite moderate searching. Perhaps I'm being unimaginative and using the wrong keywords.
 

Mohawk1995

Senior Member
Messages
287
Not aware of any, but given that these are "medically unexplained syndromes" I would not think any should exist. That was sarcasm in case you did not catch it.

I am aware of a case of a very busy and successful Pastor who was competing in Ultramarathons and training to do so nearly every day. In 2008 within the span of 2 weeks he went from that to being in the ICU on a Ventilator. The medical impression was that he had some fast acting muscle wasting disease, but everything was ruled out. They sent tissue and lab samples to Mayo, Cleveland Clinic, Stanford I think and more and 8 years later he has never received a diagnosis.

It took him 3 months to just be able to walk independently with a walker. Over a year to be able to swallow again. He had to leave his position and eventually returned to work in the in 2013. He will always have deficits for the rest of his life. Very powerful story and chronicled in "An Honest Look at a Mysterious Journey" by John Stumbo.
 

user9876

Senior Member
Messages
4,556
To follow on from the hype around "medically unexplained syndromes".
Is anyone aware of publications around delay in diagnosis where the patient presents to the GP with 'nonspecific' symptoms (or ones the GP doesn't know), or post-mortem diagnosis of disease, where the symptoms last >6 months.

Ideally uncontroversial organic diseases, with objective tests your GP would understand, look up, see the symptoms, and be entirely happy with accepting as the cause of your mysterious symptoms.

I've been unable to find such on pubmed despite moderate searching. Perhaps I'm being unimaginative and using the wrong keywords.


I think that is research that should be done but I can't see it being funded in the UK because it is the british medical establishments dirty little secret that they dismiss all sorts as MUS or dismiss patients as the worried well. They won't want to be exposed.

I do remember that there was a paper that talked about a number of MS patients first being diagnosed with ME.
 

RogerBlack

Senior Member
Messages
902
I think that is research that should be done but I can't see it being funded in the UK because it is the british medical establishments dirty little secret that they dismiss all sorts as MUS or dismiss patients as the worried well. They won't want to be exposed.
I am not talking about 'anti-MUS' research.
But research into specific conditions that reveal through the diagnosis delay - inherent periods when the condition was 'medically unexplained'.

For these conditions, where the symptoms in question lead to a likelyhood of 'MUS' services being offered as a 'treatment', it would at least lead to an obvious baseline of the fraction of MUS patients who in fact have some objectively diagnosable condition.

https://www.ncbi.nlm.nih.gov/pubmed/27149919 - after some searching. Of narcolepsy.
The mean time gap between disease onset and first medical consultation was 3.2 ± 5.1 years; the mean diagnostic delay was 8.9 ± 11.0 years. Prior to correct diagnosis, patients received a wide variety of misdiagnoses. The self-ratings of the patients revealed that the undiagnosed symptoms caused high levels of anxiety and unjustified criticism by family, friends and employers.

https://www.ncbi.nlm.nih.gov/pubmed/27638835 - chrons '20% of patients had to wait up to 5 years' (where this considerably worsens the outcome versus being caught early)

https://www.ncbi.nlm.nih.gov/pubmed/27571562 - Acromegaly -
Diagnostic delay of acromegaly is still very relevant (6-8 years on average) without substantial changes in last twenty years. Clinical impact of this diagnostic delay is significant: tumor growth (2/3 of the patients at diagnosis bear a pituitary macroadenoma), development of irreversible complications (arthropathy, sleep apnea) and in all increased mortality.
https://www.ncbi.nlm.nih.gov/pubmed/25139307 On Celiac
Altogether, 261 (32%) out of 825 participants reported a diagnostic delay of >10 years

Ideally I'd go down the list of the forums 'alternate or missed diagnosis', find those with undeniable diagnosis, and repeat the search in a targetted manner looking at specific symptoms to see how many are those symptoms highlighted in MUS 'treatment' and come out with an estimate of diagnosable patients that would be given a MUS diagnosis.
 
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Cheshire

Senior Member
Messages
1,129
The Voice of 12, 000 Patients - Experiences and Expectations of Rare Disease Patients on Diagnosis and Care in Europe
http://www.eurordis.org/IMG/pdf/voice_12000_patients/EURORDISCARE_FULLBOOKr.pdf

A wide survey based on questionnaires sent to 50 European patient organisations in 17 countries.


Table 3 (see p 48) describes the percent of overall misdiagnoses and the percent of psychological or psychiatric diagnoses for each disease investigated.
It also displays the delays in diagnosis reported by survey participants as a function of the type of misdiagnos is th ey received. Patients who initially received a false psychological or psychiatric diagnosis experienced longer delays in diagnosis , suggesting that this type of diagnosis introduced yet an even greater barrier for patients before the quest for correct diagnosis could be resumed



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Prader -Willi syndrome (PWS), Marfan syndrome (MFS), Crohn’s disease (CD), Duchenne musculardystrophy (DMD), tuberous sclerosis (TS) and cystic fibrosis (CF), fragile X Syndrome (FRX), Prader-Willi Syndrome (PWS), Ehlers Danlos Syndrome (EDS)
 
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alex3619

Senior Member
Messages
13,810
Location
Logan, Queensland, Australia
Much of the research done on this predates the www. It goes back to the 50s and 60s. There does not appear to be any convincing evidence this issue has changed. You will need a medical library, and to photocopy it, unless it has been transferred to electronic media. More recently we had some super dodgy research claiming that only 4% were misdiagnosed if diagnosed with psychosomatic illness. It was reaaallly poor research, and indefensible claims were made about the findings. I do not have a reference handy, though I think I looked at it a few years back.