Being reminded how rare dermatomyositis is

Last week, at my annual check-up, my internist reminded how rare dermatomyositis is. He told me he had not seen a patient with the autoimmune disease in his 30-year-plus career. That includes his stint as a pharmacist.

He also relayed my dermatologist’s reaction when he first diagnosed me: “You won’t believe what this guy you sent me has.”

Like my internist, my dermatologist has been in practice almost 30 years and has not seen more than a couple cases of dermatomyositis. That was why it took him about two months to come up with the correct diagnosis. If not for the woman with him that day, it may have taken him longer.

Interestingly, legendary opera soprano Maria Callas had dermatomyositis. So did four-time Academy Award winner Lawrence Olivier, who many regard among the twentieth-century’s greatest actors. See him in Shakespeare’s Hamlet (1948) above.

An Opinion from a Consulting Dermatologist

The day he diagnosed me in July 2018, another doctor was present. I cannot remember her name or her specialty. My internist last week explained she was some sort of a consulting physician on rare dermatological diseases.

After reviewing my case file, she examined my rashes. I told her and my dermatologist about the trouble breathing and my blood tests, which showed elevated antinuclear antibody. I mentioned my internist’s suspicion I had lupus.

She then asked if I had trouble walking up the stairs. I said no.

She again examined the rashes on my fingers, neck, and shoulders. I now know what she was looking for: Gottron’s papules and a shawl rash–both diagnostic indicators of dermatomyositis.

She then walked back toward the computer and exchanged words I could not hear with my dermatologist. Five seconds later, they approached the front of the exam chair and suggested dermatomyositis.

“What in the world is that?” I asked them.

Too Rare—Even for Dr. House

Being an insatiably curious House, MD fan with an Internet connection, I had heard of most common and obscure autoimmune diseases, from rheumatoid arthritis to sarcoidosis to Behçet’s.

Dermatomyositis is an autoimmune disease in which your immune system attacks your skin and muscles. It is among the rarest autoimmune diseases on the planet, affecting 16,000 people in the United States and as few as five in a million people worldwide. Dermatomyositis with little to no muscle involvement, such as mine, presents in only 5 percent of those cases.

Dermatomyositis makes only one appearance in all eight seasons of House: a passing suggestion from Dr. Lawrence Kutner when the team tries to figure out what killed former team member Dr. Amber Volakis (Season 4, Episode 16, “Wilson’s Heart.”). Of course, Dr. Kutner is wrong. I can’t help, however, thinking the writers missed a great opportunity for a final, correct diagnosis for another episode.


Time to add methotrexate

My rheumatologist and dermatologist agree with the Mayo Clinic dermatomyositis guru: After ten weeks on hydroxychloroquine, with few results, I need to add methotrexate and folic acid to my regimen of medications and supplements.

Otrexup: subcutaneous methotrexate
I’ll now be injecting myself with methotrexate in the thigh once a week with a cartridge that looks like a Soviet torture device. And I’ll be taking one milligram of folic acid every day—2.5 times the amount pregnant women take to stave off birth defects.

Methotrexate suppresses the body’s immune system. Developed in the 1940s as a chemotherapy agent to treat cancer, in low doses, studies and clinics have shown it effectively treats many autoimmune disorders. It’s a first-line treatment for rheumatoid arthritis and a second-line treatment for psoriasis. (Interestingly, it also used to induce abortions.) The drug is affordable, generally safe, and well tolerated by autoimmune patients.

Only time will tell whether or not the methotrexate relieves any of my rashes and itching. Medical journals show mixed evidence of its efficacy. In this dermatology study, only 1 of 4 patients with amyopathic dermatomyositis, in this one, only 2 of 3. However, this 1998 study showed it helped all 13 patients, whether they had muscle involvement or not. This 2011 study also found methotrexate reduced skin lesions in 8 of 11 patients.

Risks of Methotrexate

Liver toxicity is a risk of taking methotrexate. Though most of the above studies tout few adverse effects, one cancer-dermatomyositis patient had hair loss. These doctors observed psoriasis and dermatomyositis patients are at higher risk to liver damage than those with rheumatoid arthritis.

That said, methotrexate side effects are much more common in cancer patients. They take much higher doses of it than autoimmune patients. Brain damage is a real possibility for them.
 
I talked to all three of my doctors about side effects and risks. All three say the medication is generally safe and not to worry. Issues listed online and discussed in medical journals mostly affect autoimmune patients also battling obesity, drug or alcohol misuse or abuse, or cancer.
 
I will need regular blood tests to check for early signs of liver toxicity before the drug causes irreparable damage.

 

Visiting the dermatomyositis expert at Mayo Clinic

Mayo Clinic Scottsdale looks like a corss between a Cold War military complex and a lost Frank Lloyd Wright building.

Mayo Clinic Arizona is nestled on the northeastern edge of Scottsdale in the desert foothills of the McDowell Mountains. Its main structure looks like a cross between an unmapped military complex and a lost Frank Lloyd Wright building. In a nod to Wright’s organic architecture, the campus blends in with the Sonoran landscape; southern Arizona staples like saguaro, pipe organ cactus, mesquite, and palo verde surround it.

My girlfriend and I drive past the sparse vegetation, then park and enter underground, reinforcing my comparisons to a Cold War military site. We take two different sets of elevators to the second floor.

Hospitals rarely, if ever inspire positivity or happiness. Those waiting next to us either have serious health problems or are accompanying someone who does. Many are in wheelchairs. Several are bald. Others, like myself, have mottled skin.

Mayo Clinic in Rochester, Minnesota is, by most measures, the world’s best hospital. U.S. News and World Report rank its sister campus, Mayo Clinic Phoenix-Scottsdale, eleventh in the United States. I remind myself as I look around, wondering how many of these people are here as a last resort.

Mayo Clinic Uber-Rheumatologist, Part I

Just like any other visit to a specialist, after being called back, a nurse measures my height and weight, and I put on a gown. I wait.

The physician’s assistant enters with a stack of paperwork—written testament to the amount of time I’ve spent over the past six months in doctor’s offices, labs, and imaging centers. Unlike many physician’s assistants, this woman’s thoroughness and knowledge of internal medicine is immediately apparent.

After reviewing my medical history, she spends another half-hour examining my muscles, rashes, and lungs. She finds no additional evidence of muscles weakness or lung involvement.

Mayo Clinic Uber-Rheumatologist, Part II

The doctor enters. In my mind, I’ve talked up his reputation and specialty as though he holds all the answers, but as I told my girlfriend that morning, he is not a miracle worker. But he does know more about dermatomyositis than all but a handful of other highly trained men and women.

The rheumatologist re-checks my muscle strength. He remarks my muscle strength is excellent, but unlike my regular rheumatologist, he notes when a dermatomyositis patient works out as much as me, it’s possible people do not notice the muscle regression.

I certainly did. I went from being able to do thirty push-ups to being able to squeeze out three. Of course, that weakness could be from all the corticosteroids I’ve needed to manage my condition.

He surveys my rashes, then says these are classic dermatomyositis rashes. It’s a relief for someone to immediately recognize what I have.

All that said, he agrees with my rheumatologist that I most likely have amyopathic dermatomyositis. He thinks my prognosis is actually quite good and likes my current treatment plan. He nonetheless orders an electromyography (EMG) test to confirm my muscles are in good health and additional imaging to make certain I do not have cancer (10 percent of dermatomyositis patients have cancer).

My girlfriend asks him if my muscles could get worse over time, if my immune system could further attack itself, if this is only the beginning of the end. She wants answers, to know I’ll be around to love her as long as she is to love me.

He cannot promise that. Neither can I. But for now, apart from the itchy, painful rashes covering my chest and arms, I still have my health.

Diagnosis confirmed: amyopathic dermatomyositis

After three weeks, seven vials of blood, one vial of urine, and a computer tomography (CT) scan, my doctors have once again confirmed I have dermatomyositis.

Yet in true House episode fashion, this is an atypical presentation of dermatomyositis, called amyopathic dermatomyositis. In this instance, my skin itches, burns, and aches from the rashes on my arms, shoulders, and chest. But my muscles have not wasted enough to diagnose me with myositis.

Underneath my skin, my aldolase levels are still elevated. My breaths are sometimes shallow. I lost some muscle weakness. (But this could just as easily be all the corticosteroids I have been taking.) And my creatine kinase levels, which would indicate systematic muscle destruction, are within normal range.

Apparently, my body has decided having a very rare autoimmune condition does not make me special enough. According to Callander, Robson, Ingram, and Piguet, amyopathic dermatomyositis affects only 5‒20 percent of dermatomyositis patients. Doctors have only known about the condition since the early 1990s.

Good news at last

For the most part, this is great news. Exagen’s AVISE® test confirmed I do not have lupus, which can affect multiple organs. My urine and blood tests ruled out any kidney or liver damage. Functional muscle strength means I can maintain the quality of life I want.

However, amyopathic dermatomyositis is more likely to affect my lungs. Since my CT came back normal, for now, my doctors are not concerned. But interstitial lung disease remains a possibility. My immune system may also decide to begin attacking my muscles more severely.

My doctors and I will continue to monitor my disease. My rheumatologist has prescribed hydroxychloroquine (Plaquenil), an antimalarial drug used to combat autoimmune diseases. He has also started tapering down my steroids. And my dermatologist gave me a large tube of fluocinonide cream to keep the itching at bay.

Sometimes, being medically special is a good thing. A smile has returned to my face.