Case Presentation: A 44-year-old female with a history of an overlap syndrome of systemic lupus erythematosus and rheumatoid arthritis, fibromyalgia, and psychogenic nonepileptic seizures was in her usual state of health until 1 year ago when she developed progressively worsening dysphagia. A few months prior to presentation, she developed weakness in her proximal lower extremities followed by weakness in her arms and a rash on her face and chest. She presented to the hospital for worsening dysphagia, nausea/vomiting, and weight loss.Physical exam was notable for 4/5 weakness in her bilateral proximal upper and lower extremities. A dry, scaly, erythematous rash present around her eyes was characteristic of a heliotrope rash, and it extended across her neck and chest in a pattern consistent with the V sign. Periungual erythema was present on a finger of her right hand. Laboratory results were notable for elevated aspartate and alanine aminotransferase levels, i.e. 243 unit/L and 193 unit/L, respectively. Complete blood count was normal. Creatinine kinase and aldolase were elevated at 458 U/L and 10 U/L, respectively. ANA titer was 1:640 with a speckled nuclear pattern, and anti-transcriptional intermediary factor 1 gamma (anti-TIF-1-γ) antibody was highly positive. Electromyogram showed a proximal irritable myopathy of the bilateral upper and lower extremities. She received 2 g/kg of intravenous immunoglobulin (IVIG) given over two days along with methylprednisolone 250 mg intravenously BID for four days followed by a steroid taper. Her muscle weakness, dysphagia, and rash improved after she received the IVIG and pulse-dose steroids. Ultimately, she was discharged to an acute rehabilitation facility.Since the anti-TIF-1-γ antibody is commonly associated with malignancies, a workup was performed during the admission. She was up to date with her age-appropriate cancer screening including mammograms, pap smears, and colonoscopies. A CT chest, abdomen and pelvis was obtained and did not show any evidence of an underlying malignancy. She was advised by our rheumatology consultants to have an outpatient transvaginal ultrasound to evaluate for ovarian cancer.
Discussion: The anti-TIF-1-γ antibody is a myositis-specific antibody that is present in 22.2% of patients with dermatomyositis. It is associated with a 9.37-fold higher risk of malignancy (1). For patients with anti-TIF-1-γ antibodies, solid tumors are more frequently noted than hematological malignancies (1). Commonly detected malignancies in patients with an anti-TIF-1-γ antibody are lung, stomach, breast, and ovarian cancer (2). For patients with dermatomyositis and cancer, higher tumor staging is associated with anti-TIF-1-γ positivity in comparison with anti-TIF-1-γ negativity (3). An international multidisciplinary group for the idiopathic inflammatory myopathies recently released cancer screening guidelines. For female dermatomyositis patients with an anti-TIF-1-ƴ antibody, the guidelines recommend that the initial cancer screening should consist of a CT scan of the neck, thorax, abdomen, and pelvis, cervical cancer screening, mammography, a CA-125 level, a pelvic or transvaginal ultrasound for ovarian cancer, and a fecal occult blood test (4).
Conclusions: The presence of anti-TIF-1-γ antibody in a patient with dermatomyositis should prompt cancer screening since this antibody is highly correlated with malignancies. If the initial work up is negative, then ongoing monitoring for the development of a malignancy is recommended.