Reynolds Syndrome: a rare rheumatologic disease that internists should have in mind. Case report

Abstract

Introduction. Reynolds syndrome (RS) is an autoimmune disorder characterized by overlapping primary biliary cirrhosis (PBC) and limited cutaneous systemic sclerosis (lcSSc). Some published cases do not report pulmonary arterial hypertension (PAH), and diagnoses are usually based on clinical, immunological and histological findings, mainly focused on dermatologic features, on those associated with Sjögren's syndrome, or on an interesting presentation of malignant thymoma; only one case of reported PAH was found, but it was an image report. Case Presentation. This paper reports the case of a 75-year-old woman who presented with some of the features mentioned above, severe PAH, dyspnea for one month and two weeks of purulent expectoration, as well as generalized pruritus, nasal telangiectasias, Raynaud phenomenon, sclerodactyly, and high levels of alkaline phosphatase and transaminases. Pulmonary arterial hypertension was documented through a transthoracic echocardiogram, and inmunoflorecence reported mitochondrial and centromere patterns of antinuclear-antibodies. Consequently, RS was diagnosed and phosphodiesterase type-5 inhibitors were started for PAH treatment resulting in the improvement of dyspnea. Conclusion. Dyspnea could be caused by many conditions, but in the presence of clinical and physical findings, it suggests an autoimmune disorder. Scleroderma should be considered and, additionally, PAH should be investigated since it is present in up to 10% of patients, conferring a worse prognosis. Internists should keep in mind that these disorders may be associated with other autoimmune diseases.

Keywords

• Reynolds Syndrome
• Scleroderma
• Limited
• Liver Cirrhosis
• Biliary
• Raynaud phenomenon