• Question: Are the causes of some diseases idiopathic because there is no researched explanation, or because there is genuinely no explicable answer?

    Asked by bath493nag on 24 Nov 2023.
    • Photo: Michael Schubert

      Michael Schubert answered on 24 Nov 2023:


      With some idiopathic diseases, we know that there is an explanation, but we don’t know what it is. This is often true of genetic disorders, for instance, because we can see common characteristics or inheritance patterns even if we don’t know what gene or mutation causes the condition.

      But, with other diseases, we don’t even know what kind of explanation to look for. That doesn’t mean there is no explanation, but it means that we might not have done the research to fully understand the disease or that we aren’t looking at the right things diagnostically to find the answer.

      So I think I’d say it’s always either because the research isn’t there yet (so we don’t have an answer) or because we haven’t done the right diagnostics (so we don’t have the information that could lead us to the answer).

    • Photo: Sophie Shaw

      Sophie Shaw answered on 27 Nov 2023:


      Genetic diseases are really complicated in the majority of cases. Most of what is known relates to monogenic diseases where there is a clear single gene which when changed causes a disease. There are also instances of polygenic disease, where it’s caused by a combination of many genes, but less is known in this field. And the impact of the environment also needs to be taken into account. More research will always help us to better understand these things.

    • Photo: David Clancy

      David Clancy answered on 27 Nov 2023:


      Idiopathic, from the Greek idios (I don’t know), pathos (I’m sorry)😁.

      Mostly it’s because of complex, sometimes interacting, causes involving genetics, environment, maybe developmental as well, with each contributory factor making up a small amount of risk.

      Schizophrenia is an instructive example.

    • Photo: Debbie Guest

      Debbie Guest answered on 27 Nov 2023:


      Great question. I would hyothesise that they do have actual causes and we just haven’t discovered them yet. But negative results in science are always very difficult to prove so if there was genuinely no cause of the disease it would be very hard to show this with a high degree of confidence.

    • Photo: Caroline Hyde

      Caroline Hyde answered on 28 Nov 2023:


      Good question. A disease diagnosed as ‘idiopathic’ means that at the time of diagnosis, there was no discernible cause.
      I would read this as ‘no discernible cause AS YET’. There will obviously be an underlying pathological change in the biology but medical professionals will often look to exclude ‘known’ causes and if they cannot find evidence for these, disease are diagnosed as ‘idiopathic’. However, we know that some diseases are the result of complex interplay between genes, the environment, presence/absence of comorbidities (such as autoimmune diseases) etc. so this just demonstrates that there is a lot we do not yet fully understand.

    • Photo: Martin Johnsson

      Martin Johnsson answered on 1 Dec 2023:


      That is a great, near philosophical question! I bet in most cases it’s simply that we don’t know the explanation, but with more knowledge and perfect data on the person’s life and biology, we could formulate an explanation.

      But! There is also a particular type of unpredictability built into the development of an organism from the fertilized egg into the adult individual, and it may be that some of these changes are — even with any type of information we could realistically gather about the individual — fundamentally unpredictable.

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