Connective tissue disease associated with pulmonary arterial hypertension: management of a patient with severe haemodynamic impairment

PAH associated with mixed connective tissue disease: management of a severe case http://ow.ly/CQHeY Despite the availability of specific therapies targeting multiple pathways involved in the development and progression of pulmonary arterial hypertension (PAH), and the improved survival observed in PAH patients in recent years, it remains a progressive, devastating disease Some encouraging evidence regarding the use of upfront triple-combination therapy in the management of patients with advanced disease has been previously reported This article reports the management of a patient diagnosed with severe PAH (New York Heart Association (NYHA) functional class IV) who was referred to the national pulmonary hypertension reference centre. The article highlights important considerations for timely and accurate diagnosis of PAH and exhaustive aetiological evaluation. It provides key insights into the management of patients presenting with severe disease, with particular focus on their treatment with multiple PAH-specific therapies. This is the case of a 20-year-old female patient who was seen by her general practitioner with symptoms of inflammatory arthralgia (fingers, wrists and knees), which she had been experiencing for several months (since December 2010), associated with a long history of Raynaud's phenomenon. The patient was a nonsmoker, was not on any therapy (except the oral contraceptive pill), and did not have a history of taking appetite suppressants. She had no family history of PAH. A rheumatological assessment was initiated, and despite tests for rheumatoid factor and anti-cyclic citrullinated peptide being negative, rheumatoid arthritis was initially suspected. Treatment with nonsteroidal anti-inflammatory drugs followed by methotrexate proved to be ineffective and was stopped in September 2012 after 21 months.