GETTING TO THE HEART OF THE MATTER

ABSTRACT

CASE 45-year-old woman with PMHx systemic sclerosis presents with fever, weight loss, chest tightness, weakness and altered mental status for 2 weeks. Home meds are prednisone, mycophenolic acid, lasix. On presentation she is febrile to 38.9C, HR 110, BP 97/64, SpO2 96% on RA. Exam shows telangiectasis, normal cardiopulmonary exam, mild sclerodactyly. Oriented only to self, has bilateral LE 3/5 weakness. Labs with WBC 2.6K, Hgb 7.1, plts 126K. Cr normal. Liver enzymes mildly elevated. BNP 3900. Trop 251. Lactate 4.9 Blood cultures negative, CMV/EBV negative, COVID-19 negative, Ferritin > 15,000, Triglycerides 274 LDH 495, Fibrinogen 274, D-Dimer 755, ANA 11280, + dsDNA, low titer Smith, + RNP, + SSA, + RNA Pol III. TTE with EF 27% and diffuse hypokinesis. Cardiac MRI with myocardial fibrosis no active myocarditis, suggestive of scleroderma. Lumbar puncture with high protein, borderline increased oligoclonal bands, elevated IgG index but elevated synthesis rate, suggestive of CNS inflammation. Patient is in cardiogenic shock secondary to hemophagocytic lymphohistiocytosis/macrophage activating syndrome (HLH/MAS) related to systemic sclerosis/scleroderma with SLE overlap requiring inotropes and aggressive diuresis. She develops severe pain and bright red purpura on bilateral legs. Hypercoagulable w/u showed low protein C/S, low complement, negative cryoglobulin. Skin biopsy showed vaso-occlusive process c/w HLH/MAS. Receives IV methylprednisolone for empiric treatment of HLH/MAS and IV cyclophosphamide for possible lupus cerebritis. Patient improves and is discharged on long-term milrinone, Plaquenil, and steroids. IMPACT/DISCUSSION: Secondary HLH or MAS is a life-threatening condition of extreme inflammation that can occur in autoimmune conditions, infection, or malignancy Diagnosing HLH requires high clinical suspicion - >10K ferritin level is highly sensitive and specific for diagnosis of HLH This patient has multisystem involvement of autoimmune disease given history of scleroderma The LP studies raise concern for lupus cerebritis, specifically the IgG index and IgG synthesis rate are helpful for this diagnosis Underline subtype of systemic sclerosis-overlap syndromes and here particularly scleroderma lupus overlap Highlight the utility of cardiac MRI in characterizing myocarditis / fibrosis Discuss need for high alert for necrotizing fasciitis with painful palpable purpura Overview treatment of HLH/MAS with high dose steroids Reflection on high mortality of HLH/MAS and question of recovered heart function CONCLUSION: Teaching Point 1 Secondary HLH is a syndrome of extreme inflammation caused by underlying malignancy, autoimmune condition, or infection. Teaching Point 2 HLH and MAS have a great deal of symptom/clinical presentation overlap. Ferritin level > 10,000 is highly sensitive and specific for diagnosis of HLH Teaching Point 3 Systemic sclerosis can present in a variety of ways including cardiac, lung, skin involvement.