What Are Syndromes?

As a clinician, I really don't like the term "syndrome." It kind of sounds bad and I don't really have a choice but it makes me frustrated, and I can guess how it makes my patients feel. What's a syndrome? Let's talk about a few.

What is a Disease?

Webster's Dictionary says that a disease is a condition of the living animal or plant body or one of its parts that impairs normal functioning and is typically manifested by distinguishing signs and symptoms. The last is the important part. A disease is typically manifested by distinguishing signs and symptoms. A disease usually has a defined or understood cause, process, and treatment. I like working with diseases. Well, I like working with something I think I understand and have a treatment that usually works.

Take strep throat. Pick appendicitis. Pick cholera. Even take diabetes. I can define it by its symptoms, its signs, and its labs. And even if the treatment is hard or doesn't always work, the patient and I can usually grab hold of the disease diagnosis and deal with it. Medicine is pretty good with a lot of diseases.

What Are Syndromes?

Okay. What does the word "syndrome" mean? Well, Webster's Dictionary defines a syndrome as a group of signs and symptoms that occur together and characterize a particular abnormality or condition. Another definition is a set of concurrent things, such as emotions or actions, that form an identifiable pattern.

It comes from the Greek words meaning running together. "Symptoms running together." That doesn't really help me or my patient understand what might be the underlying causes, and what might be specific treatments.

So what are a few syndromes? Sin. That's a bad word, sin, so syndrome, I don't like it. For instance, Irritable Bowel Syndrome, Chronic Fatigue Syndrome, or Polycystic Ovary Syndrome, all of which are more common in women, and in the case of Polycystic Ovary Syndrome, only occur in women.

Syndromes are defined by a group of signs or symptoms. You may not have to have all of them, but you might have two from one group and one from the other to have a syndrome. It is not a disease. Some women with a syndrome aren't really very ill. There is no clearly understood process that pulls all the patients together into a group that has a single cause and a defined cure. See why my patients and I are frustrated? Sometimes a syndrome is a bunch of symptoms that we aren't smart enough yet to understand, and the underlying specific disease process and treatment has not been figured out yet.

Irritable Bowel Syndrome

So let's look at these three examples of syndromes in women. Irritable Bowel Syndrome, is more common in women than men and we don't know why. We don't know the cause and we're not really sure of the symptoms. Some women have diarrhea. Some women have constipation. Some have both, and some just have bloating and belly discomfort. But if you have to have some symptoms to run with the Irritable Bowel Syndrome, so you've got to have some kind of bowel symptom. We don't have a good cause and we don't have a good cure and we don't have a very good treatment.

Now, the thing about IBS is that there are some diseases that run with the syndrome. Crohn's Disease, is chronic diarrhea from infectious agents like worms or parasites like giardia, and when you have a syndrome you and your clinician need to rule out specific diseases that run with the syndrome, specific diseases with specific causes, and specific treatments.

Chronic Fatigue Syndrome

How about Chronic Fatigue Syndrome? Again, more common in women than men. This condition includes a number of debilitating symptoms of fatigue, dizziness, mental confusion, and a number of other symptoms.

Recently, it's been given a new name that's confusing to non-clinicians but perhaps better describes the symptoms, myalgic encephelomyelitis. Hear what I mean by it's confusing? Currently, there are no tests and no specific treatments because, so far, this is a syndrome. However, some women with symptoms of chronic fatigue syndrome have a specific underlying disease. They may have viral encephalitis. They may have an underlying bacterial infection. They may even have cancer, and as with other syndromes we have to make sure to rule out specific diseases that have specific causes and treatments.

Polycystic Ovary Syndrome

Now, let's get to Polycystic Ovary Syndrome. That syndrome is only in women. It's my favorite or perhaps my least favorite because I'm a reproductive endocrinologist, and I've seen this syndrome more than any other. What PCOS is and what it runs with depends on what group of experts are picking the signs and symptoms. Once, a woman had to have all three things -- irregular periods, enlarged ovaries with lots of tiny cysts, and evidence of extra male hormones. We didn't have one disease process that caused these problems, and it was associated with obesity, infertility, increased risk of uterine cancer, diabetes, and heart disease.

But many women weren't obese, infertile, didn't get cancer, didn't get heart disease, and didn’t get diabetes. With the older criteria, about 1 in 20 women had this syndrome. The newer criteria were developed and suggested women only needed to have two of the following, irregular periods, lots of little cysts which were actually egg cysts, and extra male hormones. Well, just the first two mean that nearly all adolescents could be diagnosed with PCOS, lots of eggs, and irregular periods. If teens were given the diagnosis of PCOS, they Googled it and read that they were at risk for obesity, infertility, diabetes, cancer, heart disease, and depression.

And for sure, the last happened because reading all this got them depressed. But a lot of teens grew out of their irregular periods and they didn't forget their possible diagnoses. So probably if we used the newer criteria, we've been over-diagnosing a lot of women with PCOS. With the newer criteria, we could possibly make the diagnosis of PCOS in 1 in 5 women instead of 1 in 20. Women with the diagnosis felt overwhelmed, and we didn't always explain how a syndrome isn't a disease. It isn't a death sentence, and some women just seem to get over it. Well, we need to be careful with the diagnosis of syndromes.

The Difference Between Diseases and Syndromes

It's labeling sometimes. It's not really even a diagnosis. We need to make sure that there isn't an underlying disease that has a specific cause and a specific treatment. We need to be careful and to be humble with our labeling of diagnoses and syndromes, as giving women a label may make them cause to think of themselves as diseased or abnormal. We need to help them cope with their symptoms holistically, working on their emotional, physical, and social health while being careful not to over-treat their symptoms. And we need to keep learning and pursuing research that will help us and our patients understand the causes and the best therapies.

updated: November 17, 2023
originally published: December 7, 2017