My 10,000-foot View with Dermatomyositis
My journey with Dermatomyositis began as a perplexing odyssey, marked by subtle symptoms that fluctuated between my last two pregnancies. Fatigue, joint pains, and sporadic rashes hinted that something was amiss, but these signs initially confounded even seasoned medical professionals. The fatigue felt like that first-trimester pregnancy exhaustion—where l felt like I was melting into the couch and caffeine didn’t touch the overwhelming need to shut my eyes.
At first, rheumatology chalked up my symptoms to just “being a mom,” since I was working night shifts in the ED as a PA while raising small children. I knew in my heart of hearts something wasn’t right, but it took two years of worsening symptoms that I could no longer ignore or compensate for.
When I was finally diagnosed, my body was riddled with rashes. I couldn’t stand up from a chair, lift my head from my pillow, or get out of bed without flinging my body. I couldn’t lift my arms above my head for more than a few seconds or carry my six-month-old. My scalp felt like it was on fire, I lost half of my hair, and I had incessant itching, Raynaud’s phenomenon, mechanic’s hands, joint pain, and swelling.
Fortunately, I was in a position to advocate for myself and push past the dismissals and misdiagnoses. Thinking a previous labral tear had worsened, I went to my orthopedic surgeon for right hip pain and clicking. An MRI showed diffuse muscle inflammation. Meanwhile, my rashes weren’t responsive to conventional dermatology treatments, so a biopsy was finally done, revealing interface perivascular dermatitis. I put two and two together and sought a concierge rheumatologic consult, given the eight-month waiting list for a conventional rheumatology appointment. The myositis panel I requested came back positive for anti-TIF1-γ autoantibodies, confirming the diagnosis. Finally, an answer to the mysterious symptoms that had plagued me for so long—I was just a mom… with Dermatomyositis.
Demystifying Dermatomyositis
Dermatomyositis, though rare, carries a significant burden, affecting muscles and skin alike. Sudden or progressive proximal muscle weakness, often accompanied by distinctive rashes, is the hallmark feature. Symptoms include Gottron's papules, heliotrope rash, butterfly rash, shawl sign, V-sign, and holster sign—characteristic red/violet—sometimes raised papular rashes* on the knuckles, eyelids, and other areas. These patterns often appear in sun-exposed regions of the body.
Pathognomonic Findings
Gottron’s Papules
understandingmyositis.org
Heliotrope Rash
eyewiki.aao.org/File:Dermatomyositis-1.jpg
Other symptoms include dysphagia, respiratory issues, periungual telangiectasias, and calcinosis. Despite its rarity, Dermatomyositis warrants heightened vigilance due to its association with various complications, including interstitial lung disease and an increased risk of cancer.
Navigating Diagnosis and Treatment
A diagnosis of Dermatomyositis requires the presence of at least four of the following criteria:
- Symmetrical muscle weakness in the shoulders/upper arms or hips/upper legs and trunk
- Elevated skeletal muscle-associated enzymes in the serum (CK, aldolase, LDH, ALT, and AST)
- Muscle pain upon grasping or spontaneous pain
- Electromyography (EMG): short, small, low-amplitude polyphasic motor unit potentials, fibrillation potentials at rest, or bizarre high-frequency repetitive discharges
- Presence of any myositis-specific autoantibodies
- Nondestructive arthritis or arthralgias
- Signs of systemic inflammation (fever, elevated serum CRP, or ESR)
- Muscle biopsy findings consistent with inflammatory myositis: perivascular inflammation, perifascicular atrophy, vasculitis involving endomysial and perimysial capillaries and arterioles, active phagocytosis, central nuclei, or active regeneration
Muscles typically affected in Dermatomyositis
understandingmyositis.org
Treatment is very case-dependent and revolves around high-dose glucocorticoids and corticosteroid-sparing agents, such as azathioprine, methotrexate, and mycophenolate mofetil. Adjunctive therapies like IVIG and rituximab may be used in refractory cases. Lifestyle changes, like adhering to an anti-inflammatory diet, physical therapy, and avoiding UV exposure, all play a pivotal role in managing Dermatomyositis. For those with cancer-associated myositis, aggressive screening for ovarian, breast, lung, gastric, colorectal, and lymphoma are the most common) is a necessary evil for the first five years after initial diagnosis. Dermatomyositis patients at risk for interstitial lung disease require close monitoring of lung function, including pulmonary function tests.
The Burden and Blessing of Being Both Patient and Provider
Navigating a chronic illness as a patient and provider is both a burden and a blessing. There are so many facets in which being a PA has served to my benefit as a patient. The average diagnostic delay for Dermatomyositis has been quoted between two to five years. I was able to recognize and piecemeal my symptoms for a more expedited diagnosis and was able to backdoor myself into rheumatology to start treatment right away. This has increased my empathy toward patients who are in a purgatory of sorts with vague symptoms and falling through the cracks of obtaining diagnostic testing, referrals, and insurance hurdles.
I’m able to contribute ideas to my multidisciplinary team when it comes to my treatment regimen. When new symptoms arise, I have a decent barometer of when I need to be evaluated and when I can let things ride. However, the burden comes with knowing too much, not being able to turn off my PA brain, and increased anxiety when it comes to risk-benefit analysis. Advocacy, empathy, and open-mindedness are paramount in fostering meaningful patient-provider relationships and facilitating optimal outcomes.
If You’re Going Through Hell, Keep Going
There’s no cure for Dermatomyositis and remission is rare. The goal is “low disease activity” with steroid-sparing, long-term therapy. I’m so grateful to be a PA and have been well cared for by my colleagues. I bit the bullet and had a porta cath placed once my case turned refractory after a year of trial and error with medications. I’m now on a combination of mycophenolate mofetil, weekly IVIG, and rituximab. This regimen has allowed me to return to work, lift my kids, start to get my active lifestyle back and advocate for this rare disease.
The three most helpful resources that have helped me navigate my initial diagnosis:
- Receiving care at a myositis center
- The Myositis Association
- Finding other Dermatomyositis patients my age and in a similar line of work (not easy to do, but networking and sharing my story has connected me to a handful of amazing Dermatomyositis warriors)
Dermatomyositis epitomizes the intricate interplay between clinical complexities and personal narratives. By sharing my experience and clinical insights, I hope to illuminate the path for patients and providers in not only diagnosing this condition but surviving with it—and eventually thriving with it.
Resources
Learn more about my experience with Dermatomyositis in a recent PC RAP podcast segment, "Dermatomyositis: The Clinical and the Personal" or by watching on YouTube. In this segment, we cover the manifestations, diagnosis, and treatment of this disease.
The Myositis Association stands as a beacon for comprehensive information and support, offering invaluable resources and guidance for patients and clinicians alike on the journey with Dermatomyositis and related conditions.
* It’s important to note that Dermatomyositis rashes in Patients of Color may appear different than what is depicted in textbooks
