ISR Bernard Connor Medal winner focuses on rare condition

The winner of the 2019 ISR Bernard Connor Medal was Tereza Florica, a Canadian third-year graduate entry medical student at University College Cork, whose project focuses on myocardial involvement of myositis.

Ms Florica gave a well-received presentation at the 2019 ISR Autumn Meeting, where she revealed that during her rheumatology placement in Cork University Hospital, she came across three patients with diagnostic dilemmas in relation to myocardial involvement of myositis. “These difficult cases inspired me to explore this rare and complicated disease.”

The diversity of myositis disease presentation results in diagnostic difficulty across medical specialties.

“They say that lupus is the ‘disease of a thousand faces’ but the same could be said about myositis,” she explained. The extended myositis antibody (EMA) panel, though not yet routine, has documented utility, prognostic value, and gives structure to treatment options. However, myocardial involvement is one of the rarer manifestations of myositis (~3%). “Due to the many different symptomatic or asymptomatic presentations, and lack of established diagnostic procedures, this dangerous but treatable condition can be misdiagnosed,” she said.

Cardiac MRI shows promise as a tool for detecting both focal and diffuse myocardial involvement and is significantly correlated with elevated troponin.

Ms Florica cited the three female cases she came across during her placement which highlighted this.

Patient 1, with a background history of limited scleroderma, (ANA+, ENA-) presented three weeks post-partum after a Caesarean-section at 34 weeks, complicated by acute HELLP (Haemolysis, Elevated Liver enzymes, and Low Platelet count) syndrome. Once discharged, she experienced progressive shortness of breath on exertion and fatigue, which she attributed to anaemia from pregnancy-related blood loss. She then developed PND and orthopnoea, with refractory hypertension. This prompted hospital admission under the care of cardiology, where she was treated for protracted pre-eclampsia. Following discharge, she had ongoing symptoms and on review in rheumatology OPD, was found to have elevated creatine kinase (1,853;26-192IU/L), LDH (1180;135-214IU/L), and troponin (545;<14ng/L). She was readmitted clinically, in mild cardiac failure. Cardiac MRI showed no abnormalities to suggest infiltration or scarring of the myocardium. While in hospital, an EMA panel was conducted and revealed positive PM/Scl antibodies, often associated with systemic sclerosis/myositis overlap.

The patient improved after treatment with rituximab and tapering prednisolone, and went on successfully to have a second child.

Patient 2 presented with bilateral lower-limb pitting oedema, proximal muscle weakness and a four-day history of non-pruritic maculopapular rash localised to the upper limbs, abdomen, and thighs. She was also experiencing fatigue and shortness of breath on exertion, but she attributed these symptoms to the onset of menopause. Patient 2 also had remarkably elevated creatine kinase (16,556;26-192IU/L), LDH (7,671;135-214IU/L) and troponin (723;<14ng/L). However, both echocardiogram and cardiac MRI were grossly normal. She was a patient known to the clinic with active rheumatoid arthritis, treated with adalimumab. An EMA panel revealed positive anti-Jo-1 antibodies; an antibody directed against histidyl-tRNA synthetase and one of the antibodies under the classification of anti-synthetase syndrome. Myocarditis is recognised as a rare but severe manifestation of anti-synthetase syndrome but the criteria for its diagnosis are unclear. In addition, EMG and muscle biopsy findings implied acute myopathy with muscle fibre necrosis. This patient’s symptoms were alleviated by treatment with rituximab.

Patient 3, a previously healthy woman, presented with a six-week history of fatigue, diaphoresis, rash, insomnia and migrating polyarthralgia. She also experienced occasional palpitations and chest tightness, but no dyspnoea. She denied all other cardiac and respiratory symptoms. The patient attributed her symptoms to the onset of menopause. She had bilaterally reduced air entry, basal inspiratory crepitations and a soft ejection murmur, but no pedal oedema.

On admission, troponin levels were elevated and continued to increase over time to a peak of 163 (<14ng/L). New ECG changes showed T-wave inversions in leads V4, V5, II and III. An echocardiogram was grossly normal, while a cardiac MRI showed mediastinal lymphadenopathy and multiple abnormal areas of delayed enhancement, suggesting myocardial inflammation. An EMA panel revealed positive PL-12 antibodies, another one of the antibodies under the classification of anti-synthetase syndrome. In this patient, treatment with rituximab was insufficient and thus cyclophosphamide was added, alleviating her symptoms.