Category Archives: Rheumatology

Not all joint pain is arthritis

As a rheumatologist, I’m becoming an expert in evaluating all types of joint pain.  My adult patients are wonderful at describing how their joints feel: burning, stabbing, pressure, stiffness, crushing, aching, throbbing.  Children use more creative language: the joint feels like ice cream, like aliens are poking at them with needles from the inside, like bugs are crawling over them.

Pain in a joint is one of the most common reasons why patients are referred to a rheumatologist, often with the suspicion that the pain is due to arthritis.   Although there are many causes of joint pain, one simple question can help to differentiate between arthritis and most of the other conditions.

Arthritis is a term that refers to inflammation of a joint.  There are two basic types of arthritis: inflammatory arthritis (like rheumatoid arthritis) and osteoarthritis.  It’s easy to see inflammatory arthritis: it causes joint swelling, warmth, redness, and pain. Osteoarthritis, on the other hand,  does not  cause much joint inflammation and usually only presents pain.

So how is one to tell the difference between all of the entities that cause joint pain?   Just ask this question: “when do your symptoms occur?”

Morning symptoms are most common in inflammatory arthritis.  Patients describe significant stiffness in their joints when they wake up.  This is referred to as the “gelling phenomenon,” which occurs because the fluid inside the joint becomes thickened, like a gel, and makes movement difficult.  Patients with inflammatory arthritis have a hard time getting out of bed; it may take them over an hour before their joints begin to feel better.  This stiffness improves as they pursue different activities (when the “gel” is warmed up), but if they sit for prolonged periods of time, their symptoms will return.  One of my patients with active rheumatoid arthritis tells me that in the morning, her hands feel clumsy and weak, and she finds it difficult and painful to button her blouse, open jars for breakfast, or drive to work.  Her symptoms improve later in the day.

In children, who are  rarely able to describe “stiffness,” it is usually the parents who first notice the symptoms of juvenile arthritis (kids get arthritis too!).  Parents say that their child has a limp that is worse in the morning, and improves throughout the day.  They may also notice a swollen knee or ankle.  However, even with a limp and active arthritis, children  usually  continue to do most of their activities,  including sports.  I had a patient with juvenile arthritis affecting her legs, who continued to run cross-country despite active disease.  She would do well in races at “home,” when she was able to warm up well before a race.  However, whenever she went to an “away” race, she became stiff after the long bus ride, and as a result her speed suffered.

In contrast, osteoarthritis and diseases caused by damage to the joint, such as sprains, strains, and fractures, usually present with symptoms that are worse later in the day.  Pain is exacerbated when patients are involved in activities: climbing stairs, running, walking, writing, cooking, cleaning, etc.  When they sit down to rest, pain improves.   In osteoarthritis, the pain is due to joint damage as a result of wear-and-tear.  Osteoarthritis is the kind of arthritis that people usually talk about  when they say that “Aunt Bertha had arthritis of the hips and needed a hip replacement,” or “I can’t play golf with you, Lenny, the arthritis in my back is killing me!”     As you can imagine, this type of arthritis becomes more common as people age, and predominantly affects weight-bearing joints such as the knees, hips, as well as the fingers.  Stiffness is not a predominant symptom in patients that have non-inflammatory causes of joint pain.

Finally, I evaluate patients that have severe pain in multiple joints “all the time.”  These patients don’t have the warm, swollen joints that are seen in inflammatory arthritis.  They  are often young, and don’t have evidence of wear-and-tear, as seen in osteoarthritis.  They weren’t involved in an accident, and they didn’t sustain strains, sprains, or fractures to multiple joints.  How can they have so much pain, if all of their joints look so normal?  This is a topic that we are only beginning to understand.   It appears that some patients develop abnormalities in the way in which their nervous system is wired, and as a result, they experience pain due to abnormal processing of pain signals.  These patients are often given the diagnosis of chronic pain syndrome or fibromyalgia.  The most puzzling aspect of these conditions is that the pain is real–and often excruciating–even though the joint looks normal.  Treatment for these conditions is aimed at restoring the nervous system to a more normal state, rather than treating the joints that hurt.   Useful treatments for this type of pain include aerobic exercise, cognitive behavioral therapy, and medications that help to reduce pain sensitivity.

Take-home points:

  • Inflammatory arthritis (such as rheumatoid arthritis) usually causes joint swelling, stiffness, and pain that is worse in the morning and improves with activity.
  • Osteoarthritis and other causes of joint damage (strain, sprain, fracture) present with pain that worsens with activity, and improves with rest.
  • Pain amplification syndrome and fibromyalgia cause persistent pain without any visible abnormalities to the joint as a result of abnormalities in the nervous system.

What the heck is a connective tissue disease?

This week, I was called to evaluate a young man with several aneurysms (ballooning of his blood vessels) and a dilated (widened) aorta.  The medical team thought he had a “connective tissue disease” because a family member also had a connective tissue disease–she had lupus.  Unfortunately, doctors can mean very different things when they talk about a “connective tissue disease;” this is a common source of confusion for doctors and patients alike.  After reading this post, I hope you’ll be able understand the difference.

Connective tissue is the “stuff” that holds your body together.  That is, the bones, ligaments, tendons, cartilage, fat, and “glue” that keeps all your organs in place.  Two very different types of diseases can affect these tissues–you can have problems in MAKING the connective tissues, or these tissues can be ATTACKED by the body’s own immune system.

In the first type of “connective tissue disease,” the body is unable to produce strong connective tissues.  It’s like trying to build a house with weak materials.   If the materials are weak, the house is likely to develop cracks on the walls, holes in the roof, and the whole structure may fall down.  There are many genetic (heritable) diseases that prevent the body from making high-quality building blocks.  Marfan syndrome, for example, is a disease where the body is unable to make high-quality fibrillin (a protein present in many types of connective tissues).  This causes weakness of various parts of the body including the eye (causing lens dislocation), the aorta (causing dilation and potential to rupture), and lungs (causing pneumothorax, or collapse of a lung).   Ehlers-Danlos is another group of diseases where patients have difficulties making collagen, another protein necessary for high-quality connective tissues.  In this disease, patients have loose joints that often dislocate, fragile skin that is unusually “stretchy,” and have difficulties healing after injuries.  In the most severe cases of Ehlers-Danlos, the blood vessels are also weak, making them prone to breaking and causing internal bleeding.  Because these types of connective tissue diseases are genetic (hereditary), medical geneticists are the experts in this field.

The second type of “connective tissue disease” does not involve problems in making the building blocks of the body.  In fact, the body is able to make all of the connective tissues without a problem.  However, once these tissues are made, they are attacked by the body’s own immune system (and thus they are autoimmune diseases).  The body’s own immune cells (white blood cells) are tricked into thinking that the connective tissue is abnormal, and thus they  attacking those tissues.  In a sense, the body can build a house with high-quality materials, but the house is invaded by wild animals that can damage the structure of the house.  In Sjogren syndrome, for example, the glands that make tears and saliva are attacked.  In scleroderma, the skin and internal organs are attacked.  In lupus, many organs can be attacked, including the kidneys, skin, and lung.  To date, we have very little idea what causes these diseases.  Because these types of diseases are autoimmune and often involve inflammation, rheumatologists are the experts in these types of illnesses.

Don’t you think we should change the name that we use to refer to these two very different types of diseases?  What names do you propose?

After reading this post, what kind of disease do you think my patient had? Genetic or autoimmune?

What the heck is rheumatology?

When I meet someone for the first time and tell them that I’m a rheumatologist,  I usually get blank stares, as if I had spoken to them in a foreign language.  It doesn’t matter if they are a medical student, family member,  or even an immigration officer.  It doesn’t matter if they have a Ph.D. or they are a high school dropout.  I even see patients in my rheumatology clinic who have no idea what rheumatology is, nor how I’m supposed to help them.

I can’t blame them.  Rheumatology is a weird field.  Just look at the origin of the word “rheumatology.”  The prefix “rheuma,” meaning “to flow,” was first used by a Greek physician 2000 years ago,  referring to the phlegm that flows from the nose when a person is ill.   But rheumatology, as it is practiced today, has nothing to do with phlegm (talk about false advertising!).  Cardiologists don’t have this identity problem because they, of course, manage the heart.   Dermatologists treat your skin.  Proctologists…well, you get the picture.  

A quick web search about rheumatology is not fruitful either.  Rheumatology is defined as: “the medical specialty that manages rheumatic diseases.”  My rheumatology textbook doesn’t even try to define what field is all about.

In addition, we’re not a popular specialty.  I don’t know of one famous rheumatologist.  We’re not usually in the news.  We’re not the heroes in any movie.  In fact, I don’t think I’ve ever seen a TV character who is a rheumatologist (even though there is at least one paleontologist on TV!).   The TV character that most closely approximates what a rheumatologist does is my hero Dr. House (no relation, unfortunately) on the TV show House, MD.  He is actually board certified in nephrology and infectious diseases, but he gets consulted on very complicated cases, much like rheumatologists often do.  However, he’d make a lousy rheumatologist because, according to him, “it’s never lupus!”

As I see it, rheumatology is the study of inflammation (swelling, redness, warmth, and pain) occurring in the structures that hold up the body, such as the bones, muscles, and joints.  Arthritis, or inflammation of the joints, is the most common disease that we see, both in children and adults (kids get arthritis too!).  Arthritis comes in a variety of flavors, including juvenile, rheumatic, psoriatic, gouty, osteoarthritis, etc..

We also take care of complex diseases such as systemic lupus erythematosus, systemic sclerosis,  and dermatomyositis, in which the immune system attacks various different organs.  Vasculitis, or inflammation of a blood vessel, is another disease which we treat.  Other strange illnesses (with even stranger names) such as Kawasaki disease, Sjögren syndrome, and relapsing polychondritis are all within the field of rheumatology.

Most of the above-mentioned diseases are considered autoimmune, in which the immune system loses the ability to recognize self from non-self.  When a cell of the immune system passes through the kidney, it should be able to recognize it and say: “Hello! You are my kidney, I will protect you against infections!” However, in autoimmune diseases, the immune cell gets confused and says: “Whoa! What is this bean-shaped organ doing here? You look foreign, I will fight you to the death!”   As a result, the immune cell begins a process of inflammation that causes organ damage.  Many different organs can be affected in autoimmune diseases, and the name of the disease depends on which organ is affected.

At the other end of the rheumatology spectrum are autoinflammatory diseases (my favorite!).  These diseases occur when the machine that produces inflammation goes awry.   Immune cells are tightly regulated to produce inflammation only when needed (such as in response to a microbe or to damaged tissue).  However, in most autoinflammatory diseases, there is a mutation in the inflammation machine that causes it to produce inflammation at inappropriate times.  The immune cell in autoinflammatory diseases says: “Darn, I’m leaking inflammatory fluid yet again!”  Thus, the patient develops episodes of fevers, rashes, and joint pain without any other explanation.

As you can see, rheumatologists manage a wide variety of illnesses that affect many different organs.  Most of these diseases do not have clear causes, which makes rheumatology a fascinating field to study.  At least until a smart marketing team comes up with a better name for our specialty (I vote for “inflammatology!”), you won’t have to look at me weird when I tell you what I do for a living.

 

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