PKU is a disorder and Celiac is a disease. What is the fundamental difference between these two that makes one a disorder and the other a disease?
In: Biology
You picked the worst examples (for me to explain) because autoimmune and metabolic disorders are the worst to explain. Not your fault, it’s just funny that you picked those.
A disease has a clear mechanism (pathogenesis) that causes abnormal tissue function. So, celiac disease is basically an autoimmune reaction to gluten in the small intestine. The pathogenesis is the dysfunction of the receptors in the small intestine and the metabolic cascade that follows went ehy are exposed to gluten. The abnormal tissue function is the inflammatory response the hyperplasia and whatever else.
Celiac Disease is considered one of many autoimmune disorders… Wait a second… Yeah, that’s where these get confusing. An autoimmune *disorder* is a bit of a broad term that just refers to the classification, it doesn’t define each diagnosis.
Why couldn’t you pick pneumonia as an example. You’re killing me lol. Infectious agent -> lungs don’t like the thing -> inflame -> lungs don’t work so good. That’s a classic disease with a clear underlying cause, easily definable pathogenesis, and obvious tissue/organ impairment.
A disorder is a collection of symptoms associated with an observed or presumed structural change. PKU is a metabolic disorder with a genetic link, so there’s a fundamental structural abnormality in the person’s body that causes them to not metabolize phenylalanine. There’s no disease process driving it, it’s just… there. Of course, if the ketones build up, it has further negative effects on various tissues (notably the brain) but that’s not considered a pathogenesis per se.
I find the easiest examples of disorders are the developmental or psychiatric ones. There’s often nothing driving the symptoms, they just exist because the brain or body is structurally different. Down syndrome is a simple example, where we have various structural differences in the brain and body that have a collection of known functional differences associated with them. But there’s no pathogenesis driving that, it’s just the way that person is.
Celiac is commonly referred to as a disorder in medical contexts.
E.g from the mayo clinic: ‘Celiac is an inherited auto immune disorder’
You can also find plenty of instances of PKU being called a disease in medical and scientific contexts
Do a Google search with “PKU disease” (with quote marks) or “Celiac disorder”
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