Vikas K Singh, Department of Medicine, University of Pittsburgh Medical Center East, Monroeville, PA 15146
M. Patricia George, Department of Pulmonary, Allergy and Critical Care Medicine, University of Pittsburgh Medical Cente Presbyterian, Pittsburgh, PA 15146
A 62-year-old woman with a history of mixed connective tissue disease (MCTD) with polymyositis and Sjogrens syndrome presented as a challenging case of dyspnea and profound weakness with uncertainty as to whether her symptoms were due to polymyositis versus pulmonary vascular disease. In accordance with the AMBITION trail, she was started on combined endothelin-A receptor antagonist and phosphodiesterase type 5 inhibitor therapy with ambrisentan and tadalafil. The medications were well tolerated and her functional status was significantly improved in less than 3 months. This case report summarizes the upfront dual combination therapy in a patient with polymyositis complicated by pulmonary hypertension.
MeSH search Words:
Mixed connective tissue disease, Polymyositis, Sjogrens syndrome, Pulmonary Arterial Hypertension
A 62-year-old woman with history of mixed connective tissue disease (MCTD) with polymyositis and Sjogrens syndrome presented for evaluation of dyspnea. Her functional status began worsening approximately 10-11 months prior to presentation and worsened around 6 months prior when she developed acute renal failure, etiology unclear, requiring plasmapheresis and hemodialysis.
At presentation she was dyspneic even with minimal exertion. She was basically bed-bound with great fatigue at rest, and could barely get herself out of bed and ambulate, and endorsed 2-pillow orthopnea, paroxysmal nocturnal dyspnea and occasional dry cough and denied syncope or dizziness. Her physical exam was only significant trace pedal edema and decreased breath sounds in left lung base due to pleural effusion. CT Chest had shown nonspecific ground glass opacities scattered within the lungs and within areas of interstitial septal thickening suggestive of pulmonary edema. While pulmonary arterial hypertension (PAH) was at the top of the list on her initial presentation, there was also serious concern for severe polymyositis given her fatigue and profound weakness and poor follow up with her rheumatologist.
Pulmonary function testing (PFT) from 8 months prior had shown reduced DLco (40% predicted) with TLC 78% predicted. Her FEV1/FVC was 0.8 and FEV1 was 74% predicted. PFT and 6MWT could not be repeated due to her severe weakness. By echocardiogram at that time her estimated pulmonary artery systolic pressure (PASP) was 68mmHg. At the time of her referral visit, it had worsened to 107 mmHg. She underwent right heart catheterization which revealed right atrial pressure 11mmHg, mean pulmonary artery pressure (mPAP) of 45 mmHg with pulmonary capillary wedge pressure (PCWP) 7mmHg, cardiac output of 3.87 L/m by Fick, with a PVR of 8.8 Wood Units. Based on the AMBITION trial1 she was started on combined endothelin-A receptor antagonist and phosphodiesterase type 5 inhibitor therapy with ambrisentan, and tadalafil. She tolerated the medications well, and significantly improved her functional status in less than 3 months. Her WHO functional class improved from 3-4 to class 3, and she could now walk in her home and was working with physical therapy on a regular basis to rebuild her strength.
The idiopathic inflammatory myopathies (polymyositis, dermatomyositis and inclusion body myositis) are a group of rare connective tissue disease and can involve multiple organ systems. The lungs are the most commonly affected organs, occurring in more than 32-40% of polymyositis patients2-4. Interstitial lung disease is the most commonly reported complication, PAH could have prevalence up to 8% in anti-synthetase syndrome5. Post-mortem case reports have shown severe plexogenic pulmonary vascular disease changes6.The purpose of this case report is to highlight the patient’s presentation with severe deconditioning and subsequent response to dual upfront combination therapy in a case of MCTD with polymyositis with pulmonary hypertension.
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