Cystic angiomatosis of the bone, liver, and spleen

Abstract

Abstract Introduction/Objective Cystic angiomatosis is a very rare entity characterized by multifocal cystic angiomatous lesions of the skeletal system, occasionally involving visceral organ systems. Clinical presentation and progression are extremely variable. Cases with liver involvement are even rarer, and have been described as invariably fatal. The pathogenesis of this disorder is poorly understood, and no treatments are currently available. Methods/Case Report A 24 year old man with history of polysubstance abuse and untreated hepatitis C presented with acute abdominal pain. Imaging revealed hepatosplenomegaly and multiple liver, spleen, and skeletal lesions. Differential diagnoses included metastatic disease, lymphoma, and infection. Apart from known untreated chronic hepatitis C, all infectious, autoimmune and hypercoagulability work-ups were negative. Biopsies of the liver and iliac bone lesions showed areas of benign-appearing vascular proliferation in a background of fibrosis. The vascular endothelial cells were positive for CD34 and CD31 but negative for D2-40. On follow-up approximately eight months later, the patient was asymptomatic. Results (if a Case Study enter NA) NA Conclusion Liver involvement by cystic angiomatosis is exceedingly rare and has been associated with increased mortality. This case provides an example of a patient with incidentally discovered cystic angiomatosis involving liver, spleen, and bone who remains asymptomatic at follow-up. Additional cases are required to understand the pathophysiology and disease course in this group of patients, and to investigate possible therapeutic targets.