A doctor’s prescription for social media – Part 1

This is the first post in the series “A doctor’s prescription for social media.”  The second post can be found here.

As an experiment,  I immersed myself in social media for the past three months.  I started this blog, joined Twitter, LinkedIn, Google+, bought a domain name, and posted on Facebook for the first time in years.  Even within this short period of time, I reaped tangible benefits: I interacted with top physicians from across the world, kept up with the  medical literature, participated in discussions with patients about how how rheumatic diseases affect their lives, joined webinars about improving the patient experience, and provided educational information to physicians and patients about autoinflammatory diseases, my clinical interest.  Social media has changed the way that I think about and practice medicine, and it’s only been a few months. Continue reading A doctor’s prescription for social media – Part 1

Causa morbis ignota: A History of Lupus

This is a guest post written by Dr. Christine Konya, a fellow in Rheumatology at Beth Israel Deaconess Medical Center.  She studies T cells in lupus.

“We cannot say here causa mortis ignota [cause of death is unknown] but I should say causa morbis ignota [cause of the disease is unknown].” [1]

Dr. Cabot a physician at Massachusetts General Hospital was quoted as saying these words in an article published by the Boston Medical and Surgical Journal in May 1924. Today, this journal is known as the New England Journal of Medicine, officially renamed in 1928.  Dr Cabot was referring to a patient that likely had systemic lupus erythematosus. Back in those days, the disease was treated by dermatologists given the characteristic skin findings. The systemic features of lupus were not fully understood.  At that time, the disease was known as “disseminated lupus erythematosus,” considered to be associated to an infection such as tuberculosis, hence the word ”disseminated.”

In the same journal article, the confusion between TB and the new, partially described “disseminated” form of lupus erythematosus is apparent:

“-Dr. Means: What kind of skin tuberculosis did the skin people think this was?
-An Interne: Disseminated lupus erythematosus.
-Dr. Means: I thought lupus erythematosus was not a tuberculous disease at all.
-An Interne: It is thought not, but the disseminated form is.”

The idea of autoimmunity, diseases in which self-tolerance is broken, was completely unknown at that time, and the field of immunology barely existent.

Over the years, the systemic form of “lupus erythematosus” became evident. In an article published April 1934 by the New England Journal of Medicine, the disseminated form was described as the following:

“The following symptoms of acknowledged import occurred: erythematous cutaneous lesions, rheumatoid pains, hemorrhagic tendencies, high fever, and leucopenia. Roxburgh says that these fatal cases start from a chronic, localized type, that they are more frequent in women, and that they usually occur between the ages of 20 and 30 years. The presence of arthritis, arthralgia, muscular pains, albuminuria, a purpuric eruption, and a high fever are of bad prognostic significance and suggest the onset of a fatal ending. Death occurs in from one to four months after the beginning of these symptoms.” [2]

A few years later, in November 1938, a Boston dermatologist by the name of Dr. Tolman  published the following description about lupus erythematosus in the same journal.  A description of lupus which remains relevant almost 100 years later:

“It is generally accepted that there are four main clinical types of lupus erythematosus: the chronic discoid or fixed, the chronic disseminate, the subacute disseminate and the acute disseminate. The present paper deals exclusively with the discoid or fixed type. This form occurs chiefly on the face (where it characteristically attacks the bridge of the nose and the flush areas of the cheeks, the so-called butterfly outline), ears, mucous membranes and scalp. The early lesion is an erythematous and slightly elevated macule The course of the disease is chronic, afebrile and benign, in contrast with the disseminate forms, which are acute in onset, and are associated with fever and a multitude of pathologic findings, and which are only too frequently fatal.” [3]

Slowly, the field of immunology evolved, but the diagnosis of lupus erythematosus was still challenging to make in the absence of serologic markers. It was not until the late 1950’s when anti-nuclear antibody (ANA) was detected in patients with lupus, and it gradually became part of its diagnosis.

In regards to treatment, not much was available until the discovery of cortisone, for which Reichtein, Kendall, and Hench were awarded the Nobel Prize in 1950. Treatment with antimalarials began in 1951 with quinacrine. Both drugs significantly increased quality of life and life expectancy. These medicines are still the backbone of lupus therapy to this day, although other drugs are also being used to manage disease activity.

We now have a better understanding of lupus and autoimmunity in general.  We know that an imbalanced immune system with malfunctioning immune cells are the cause of tissue inflammation. It is likely that the disease we call systemic lupus erythematosus is actually a group of related disorders, not a single disease entity. However, we are still working to decipher how and why immune cells lose tolerance to self-antigen, and how the intracellular signaling cascades lead to an abnormal inflammatory response.

Treatment options for most rheumatic diseases have dramatically increased over the last two decades, also becoming more effective with the development of targeted therapy with biologics. In contrast, treatment for lupus has not yet entered its renaissance. Biologics did not meet our expectations in controlling disease, but research is rapidly evolving. The goal remains to develop personalized and target treatment options to control and eventually cure disease.

I still think that Dr. Cabot’s words from 1924 still hold true today: “Causa morbis ignota,” the cause of the disease is unknown.

 

Christine Konya, MD
Fellow in Rheumatology
Beth Israel Deaconess Medical Center
Follow me on Twitter @RheumatologyMD

 

Works Cited:
1.  Case Records of the Massachusetts General Hospital: Case 10223.  Boston Med Surg J 1924; 190:945-950.
2.  Towle and Grund.  Progress in Dermatology.  N Engl J Med 1934; 210:756-765.
3.  Maurice M. Tolman, M.D.  Lupus Erythematosus Discoides — Its Present Status with Regard to Etiology and Treatment. N Engl J Med 1938; 219:688-697.

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 are aimed at correcting the nervous system abnormalities, not at the joint.   This includes 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 are autoinflammatory diseases?

Autoinflammatory diseases are a relatively new category of illnesses caused by disorders of one arm of the immune system. Many of these diseases are characterized by recurrent fevers, rash, chest and abdominal pain, and evidence of systemic inflammation on blood tests; these manifestations often mimic infectious or other illnesses, and it may take several years for the diagnosis to be made.

Most autoinflammatory diseases are genetic (inherited), start in childhood, and persist throughout adult life. These diseases are often present in several members of a family. Other autoinflammatory diseases appear to be acquired, perhaps due to the interplay of genetic and environmental factors, and can present at any time during childhood or adulthood.

The list of autoinflammatory diseases continues to grow every month.  Here is a list of the autoinflammatory diseases as they stand so far:

Your child with frequent fevers: is it autoinflammatory?

When I was little, I used to get a lot of fevers.  With my fevers, I would develop pain in one or both of my ears, and I felt so drained that I just wanted to be left alone to watch TV (or play Atari).  If my fever spiked in the middle of the night, my parents would soak me in a tub of lukewarm water to lower my temperature (how I hated those baths!).  On the following day, I would visit my pediatrician, who would invariably diagnose me with an ear infection.  He prescribed a delicious bubble-gum flavored antibiotic that my parents kept at the top shelf in the refrigerator (out of my reach so I wouldn’t overdose).  I’m not sure if it was the taste or the active ingredient, but this antibiotic always made me feel better.  After what seemed like the millionth episode of fever, my pediatrician recommended that I get tubes in my ears, and the episodes of fever and ear pain subsided.

Recurrent infections, like those I had when I was a child, are the most common cause of frequent fevers in children.  Usually, these infections are due to viruses, such as the ones that cause the common cold.  Children with colds often develop symptoms attributable to the virus, including a runny nose, nasal congestion, or cough.  Multiple infections, one after the other, are especially common in children attending daycare or school, where they trade viruses like I used to trade baseball cards with my friends.  When I see these the worried parents of these children in my office, I have to remind them that it is normal for a child to have 9-12 colds every year.  Fortunately, these children continue to grow and gain weight without difficulty, and they are healthy between episodes. “As your child grows,” I tell the parents, “his immune system will become better at fighting infections, and the frequency and severity of fevers will diminish.”  Aside from stressing the importance of hand washing among all family members, there is not much that can (or needs) to be done about these episodes. 

However, if the episodes do not clearly match the above description, other diagnoses should be considered.  In this post, I will provide some tips that may help parents and physicians recognize a rare cause of fever in children: autoinflammatory diseases.  The most common autoinflammatory disease in children is called PFAPA, which stands for Periodic Fevers, Aphthous stomatitis (canker sores or oral ulcers), Pharyngitis (sore throat) and Adenitis (enlarged glands in the neck).   This disease usually presents in children less than 5 years of age, and causes episodes of fevers in addition to the features that make up the name of the disease (oral ulcers, sore throat, enlarged glands in the neck).  The fever usually lasts about 4 days, and it recurs at regular intervals, usually every month.  What is unique about PFAPA is that parents can usually predict when the child is “due” to get ill.  The episodes of fever are so regular as to be predictable.  This regularity is rare in most other diseases.  PFAPA is commonly misdiagnosed as frequent Strep infections, and testing for Strep throat is usually negative.  Patients do not readily respond to antibiotics, although their symptoms can disappear with one dose of steroids.

Another clue that the child may have an autoinflammatory disease is that all of the episodes of fever look alike.  For example, if the child always develops abdominal and joint pain with the fevers, then he may have familial Mediterranean fever (FMF).  If, in addition to fever, she always develops a painful rash, muscle pain, and red eyes, then she may have TNF-receptor associated periodic fever (TRAPS).  If he develops fevers, rashes, and joint pain after exposure to cold weather, then the child may have familial cold-induced autoinflammatory syndrome (FCAS).

The length and frequency of fever, associated symptoms, and age at which the fevers began can help differentiate between these (and other) autoinflammatory diseases.   Thus, it is very helpful to keep a fever diary,  specifying the characteristics of each episode.  Because many of these autoinflammatory diseases are inherited (genetic), there is often a history of other family members having similar symptoms.  In addition, it is important to note that some autoinflammatory diseases are more common in people of certain ethnic backgrounds, such as FMF in Sephardic Jews, Turks, and Armenians.

In addition to autoinflammatory diseases, there are some features of recurrent fevers that should warrant a closer look by a child’s  pediatrician.  These include prolonged episodes of fever (more than one week), recurrent fever without symptoms attributable to a viral infection, difficulty growing or gaining weight, or if the child does not return to his baseline between episodes.  Other causes of fever that should be considered in these instances include:

  • Immunodeficiencies: problems in the immune system that makes the child more susceptible to infections
  • Anatomic and metabolic abnormalities: abnormalities in certain organs that make them more prone to infections (like my ears), or diseases such as cystic fibrosis
  • Inflammatory bowel disease: inflammation of the intestines
  • Cancer: such as leukemia or lymphoma

With this knowledge, parents and pediatricians alike can help distinguish between the majority of children that develop recurrent fevers because of frequent viruses, from causes which may require additional workup or treatment.