Medical conditions that are well recognized but that (currently) lack a diagnostic biomarker?

[cassava7]

As the title asks. “Well recognized” means that the diagnosis is uncontroversial in conventional medicine.

The obvious one is Alzheimer’s but there may be other such syndromes and diseases.

If considered to be neurological diseases, or at least primarily biological in nature, this applies to all mental health illnesses (schizophrenia, bipolar disorder, depression…).

 

[Peter T]

I started doing an online search and was surprised to come up with sepsis. But also was surprised to come up with not a lot else in the short term. Will try again later.

 

[oldtimer]

Migraines

 

[RedFox]

The common cold
Autism
Tinnitus

 

[Binkie4]

Hypermobile Ehlers Danlos Syndrome

aka: type #3 Ehlers Danlos

 

[Trish]

The common cold

The virus can presumably be found, but there's no point doing so for individuals with a cold except to check whether it's Covid-19.

 

[rvallee]

You could probably put endometriosis in there. Technically it does have a biomarker, it's just very difficult and invasive to do and you need evidence to... look for the evidence. Biomarkers have to be easy, cheap and convenient to use.

Definitely: most back pain and Alzheimer's. I don't think there's one for Parkinson's either.

Really there are many, I'm sure someone has a list of this somewhere.

Also technically depression, but it obviously does not meet the "well-recognized" criteria, being even more heterogenous and vague than even the most generic concept of chronic fatigue.

 

[hibiscuswahine]

Fibromyalgia
Interstitial Cystitis

Schizophrenia, Bipolar Affective Disorder, Major Depressive Episode, Anxiety Disorders eg. PTSD, mild traumatic brain injury, cognitive impairment.

(Basically the majority of DSM 5, once “medical” conditions have been excluded, so anything that doesn’t show up on a radiological scan or sample of bodily fluid/tissue or difficult to access or might damage tissue/function on sampling)

 

[MeSci]

Definitely: most back pain and Alzheimer's. I don't think there's one for Parkinson's either.

Yes - Alzheimer's is still very uncertain. I studied it for my Master's degree, and even after death the pathology isn't clear - there are plaques and tangles but these are also found in people without dementia.

 

[SNT Gatchaman]

Also childhood diseases. See Children as Biomarker Orphans: Progress in the Field of Pediatric Biomarkers (2017) —

Biomarkers are incorporated ubiquitously into clinical practice as surrogate endpoints of physiologic and pathologic processes that cannot be measured directly. For example, a lipid panel is used to evaluate cardiovascular disease but does not measure vascular heath directly. Biomarkers monitor health, detect exposures, diagnose disease, predict disease severity and outcome, and monitor treatment effects. The potential utility of biomarkers in pediatrics is high. Children are not only at risk of developing unique illnesses, but prevalent chronic diseases previously thought of as “adult” illness, including obesity, cardiovascular disease, and type 2 diabetes, have their origins in childhood.

In an era in which precision, or personalized, medicine is becoming a priority, testing that leads to early intervention and curbs the severity of disease may have an immense impact on population health and the use of healthcare resources. Table 1 highlights examples of commonly used and recent biomarkers in pediatrics. Despite this potential, biomarker discovery in pediatrics has been limited. In 2010, the barriers to pediatric biomarker discovery were reviewed. In this updated review, we will discuss the progress, as well as remaining challenges specific to pediatrics, and potential strategies for moving forward.

A familiar example is necrotising enterocolitis — in practice I am the "biomarker" but I'm not very accurate. See Emerging Biomarkers for Prediction and Early Diagnosis of Necrotizing Enterocolitis in the Era of Metabolomics and Proteomics (2020)

 

[ukxmrv]

Parkinsons?

(I have a couple of aunties who had investigations for years and only a working theory of this until they died)

 

[Arnie Pye]

Ovarian cancer - there is a test but it is not a reliable one and women can end up being dismissed and ignored for ages.

Lung cancer - you can cough yourself sick (literally), lose several stone, be given an X-Ray, and still be told your lungs are absolutely fine, until an MRI is done.

Endometriosis, fibroids, adenomyosis, ovarian cysts - all frequently missed, dismissed, ignored for years.

Eustachian Tube Dysfunction - can't be seen via the ears so gets dismissed.

Back pain - imaging apparently often shows no spinal damage so it is ignored and often disbelieved in.

 

[NelliePledge]

https://www.nhs.uk/conditions/multiple-sclerosis/diagnosis/

Multiple Sclerosis as an example where even when there are tests there’s no single test that’s guaranteed to show it.

 

[hibiscuswahine]

A familiar example is necrotising enterocolitis — in practice I am the "biomarker" but I'm not very accurate. See Emerging Biomarkers for Prediction and Early Diagnosis of Necrotizing Enterocolitis in the Era of Metabolomics and Proteomics (2020)

Took me ages to work out how you were a biomarker….go radiology! I used to assess physical and mental state without radiology or any test. No surgeon on hand to have a look-see….clinical training and experience is often all we have at hand.