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Mysterious quad of constrictive pericarditis, recurrent pleural effusions, bone involvement and interstitial lung disease.

ABSTRACT: Erdheim-Chester disease (ECD) is a rare multisystemic non-Langerhans cell histiocytic neoplasm. The rarity of the disease and heterogenous clinical presentations often leads to delayed diagnosis. Historically, ECD lacked effective treatment and the prognosis was poor. Following the recent discovery of frequent BRAF-V600E mutation in patients with ECD, vemurafenib, a selective BRAF V600 kinase inhibitor has been approved for BRAF-mutated ECD patients. The prognosis of ECD has dramatically improved with early recognition of the disease and available treatment. ECD affects nearly every organ system. Cardiac involvement with pericardial effusion is common but rarely with constrictive physiology or requiring pericardiectomy. We present a case of a 56-year-old woman with recurrent pericarditis with constrictive physiology along with pleural effusion and interstitial lung disease that was diagnosed with ECD 3 years after initial presentation. The patient's symptoms were relieved with pericardiectomy and targeted therapy.

SUBMITTER: Ding F

PROVIDER: S-EPMC6440277 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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Mysterious quad of constrictive pericarditis, recurrent pleural effusions, bone involvement and interstitial lung disease.

Ding Feihong F Chahine Johnny J Deshwal Himanshu H Ghosh Subha S Tan Carmela C Simpfendorfer Conrad C Cremer Paul P Jellis Christine C Arrossi A Valeria AV Klein Allan L AL

Oxford medical case reports 20190329 3

Erdheim-Chester disease (ECD) is a rare multisystemic non-Langerhans cell histiocytic neoplasm. The rarity of the disease and heterogenous clinical presentations often leads to delayed diagnosis. Historically, ECD lacked effective treatment and the prognosis was poor. Following the recent discovery of frequent BRAF-V600E mutation in patients with ECD, vemurafenib, a selective BRAF V600 kinase inhibitor has been approved for BRAF-mutated ECD patients. The prognosis of ECD has dramatically improve ...[more]

PMID: 30949353

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Project description:BackgroundConstrictive pericarditis represents a chronic condition and systemic inflammatory diseases are a known, yet uncommon, cause. Pericardial involvement is seldom reported in primary Sjögren's syndrome, usually occurring in association with pericardial effusion or pericarditis. We report a case of constrictive pericarditis with an insidious course and unusual evolution associated with primary Sjögren's syndrome. Due to the challenging nature of the diagnosis, clinical suspicion and multimodality imaging are essential for early identification and prompt initiation of treatment. Long-term outcomes remain uncertain. To the best of our knowledge, no other cases linking this autoimmune disease to constrictive pericarditis have been reported.Case presentationWe present the case of a 48-year-old male patient with moderate alcohol habits and a history of two prior hospitalizations. On the first, the patient was diagnosed with primary Sjögren's syndrome after presenting with pleural effusion and ascites, and empirical corticosteroid regiment was initiated. On the second, two-years later, he was readmitted with complaints of dyspnea and abdominal distension. Thoracic computed tomography revealed a localized pericardial thickening and a thin pericardial effusion, both of which were attributed to his rheumatic disease. A liver biopsy showed hepatic peliosis, which was considered to be a consequence of glucocorticoid therapy. Diuretic therapy was adjusted to symptom-relief, and a tapering corticosteroid regimen was adopted. Four years after the initial diagnosis, the patient was admitted again with recurrent dyspnea, orthopnea and ascites. At this time, constrictive pericarditis was diagnosed and a partial pericardiectomy was performed. Although not completely asymptomatic, the patient reported clinical improvement since the surgery, but still with a need for baseline diuretic therapy.ConclusionAlbeit uncommon, connective tissue disorders, such as primary Sjögren's syndrome, should be considered as a potential cause of constrictive pericarditis, especially in young patients with no other classical risk factors for constriction. In this case, after excluding possible infectious, neoplastic and autoimmune conditions, a primary Sjögren´s syndrome in association with constrictive pericarditis was assumed. This case presents an interesting and challenging clinical scenario, highlighting the importance of clinical awareness and the use of multimodal cardiac imaging for early recognition and treatment.

Dataset Information

Mysterious quad of constrictive pericarditis, recurrent pleural effusions, bone involvement and interstitial lung disease.

Publications

Mysterious quad of constrictive pericarditis, recurrent pleural effusions, bone involvement and interstitial lung disease.

Similar Datasets

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