Resolved heart tamponade and controlled exophthalmos, facial pain and diabetes insipidus due to Erdheim-Chester disease

Abstract

A 69-year-old woman suffering from exophthalmos and facial pain came to us referred for aetiological diagnosis of exophthalmos. Orbital MRI showed thinned extrinsic ocular musculature, intraconal fat infiltration, retro-ocular compression and thickening of maxillary and sphenoid sinus walls. She had been suffering from diabetes insipidus for the last 7 years. During our diagnosis process, she presented signs of cardiac tamponade. Transthoracic heart ultrasound revealed large pericardial effusion and a heterogeneous mass that compressed the right ventricle. No osteosclerotic lesions on appendicular bones were present. Pericardiocentesis temporarily controlled tamponade and corticoid therapy temporarily abated exophthalmos. Pericardiectomy definitively resolved tamponade. Histological examination of pericardial tissue was conclusive of Erdheim-Chester disease. Exophthalmos responded to pegylated interferon-alpha-2a. Facial bone pain disappeared after zoledronic acid and interferon treatment. During interferon therapy, the patient suffered from a severe generalised desquamative exanthema that slowly resolved after discontinuing interferon. Diabetes insipidus remains controlled with desmopressin.

Prevalence, patterns and outcomes of cardiac involvement in Erdheim–Chester disease

“…We describe here the prevalence, outcomes and features of cardiovascular involvement in a large retrospective single-center study of patients with ECD. Cardiac involvement is present in nearly half the patients and may lead to pericarditis, cardiac tamponade and conduction disorders [14][15][16][17][18][19][20] (Structured Graphical Abstract). Atrial infiltration and pericardial effusion are hallmarks of cardiac involvement [21][22][23] .…”

Doença de Erdheim Chester com envolvimento isolado do SNC

“…A segunda categoria de manifestações foram as manifestações cardiovasculares, presentes em 19 relatos. Entre essas manifestações, foram relatadas: palpitações, derrame pericárdico transitório ou recorrente, tamponamento cardíaco, miocardite, nódulos intracavitários e em miocárdio e pericárdio aos exames de imagem, coarctação de aorta, estenose de veia cava superior, cardiomiopatia isquêmica aguda e aortite (5,6,(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30)(31)(32)(33). Um dos relatos que recebe grande destaque é o de Costa et al em que a primeira manifestação da doença foi um episódio de tamponamento cardíaco.…”

Localized Erdheim-Chester disease involving the thyroid gland—a case report

“…Though symmetrical diaphyseal/metaphyseal cortical osteosclerosis of the lower extremity long bones is typical of ECD, cases without bone involvement have been reported in literature [3][4][5][6], and the absence of bone involvement should not deter the clinician from considering this possibility. Moreover, bone involvement may not be the first manifestation of the disorder and may be asymptomatic in up to 50% of the patients [10].…”

“…Though the disease is classically defined based on the above criteria, cases without skeletal involvement have been identified in literature on the basis of the classic xanthogranulomatous pathology and immunohistochemical staining pattern [3][4][5][6]. In fact, the disease without skeletal involvement is a distinct subset of ECD in the revised histiocytosis classification [2].…”