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

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…).

 

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.

 

Migraines

 

The common cold
Autism
Tinnitus

 

Hypermobile Ehlers Danlos Syndrome

aka: type #3 Ehlers Danlos

 

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.

 

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)

 

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.

 

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

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)

 

Parkinsons?

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

 

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.

 

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.