INTRODUCTION: Liver hematoma is an uncommon feature of Ehlers-Danlos syndrome (EDS) type IV. The limited literature that exists to guide management does not establish a standard of care. CASE PRESENTATION: A 26-year-old man presented with acute abdominal pain caused by a large, spontaneous liver hematoma. Invasive prophylactic arterial embolization was done twice, but surgical evacuation was not offered because of concern for poor healing and brittle vasculature, later diagnosed as symptoms of the patient's EDS type IV. During hospitalization the patient died of spontaneous intracerebral and intra-abdominal hemorrhaging. CONCLUSION: This case illustrates a nonsurgical management option for spontaneous liver hematoma in a patient with EDS type IV. An interdisciplinary team should help guide care, including consideration of invasive procedures such as arterial embolization and surgery. Patient and family education, genetic testing, and timely medical record documentation may reduce the morbidity and mortality of patients with this syndrome.
INTRODUCTION:Liver hematoma is an uncommon feature of Ehlers-Danlos syndrome (EDS) type IV. The limited literature that exists to guide management does not establish a standard of care. CASE PRESENTATION: A 26-year-old man presented with acute abdominal pain caused by a large, spontaneous liver hematoma. Invasive prophylactic arterial embolization was done twice, but surgical evacuation was not offered because of concern for poor healing and brittle vasculature, later diagnosed as symptoms of the patient's EDS type IV. During hospitalization the patient died of spontaneous intracerebral and intra-abdominal hemorrhaging. CONCLUSION: This case illustrates a nonsurgical management option for spontaneous liver hematoma in a patient with EDS type IV. An interdisciplinary team should help guide care, including consideration of invasive procedures such as arterial embolization and surgery. Patient and family education, genetic testing, and timely medical record documentation may reduce the morbidity and mortality of patients with this syndrome.
Authors: Fransiska Malfait; Clair Francomano; Peter Byers; John Belmont; Britta Berglund; James Black; Lara Bloom; Jessica M Bowen; Angela F Brady; Nigel P Burrows; Marco Castori; Helen Cohen; Marina Colombi; Serwet Demirdas; Julie De Backer; Anne De Paepe; Sylvie Fournel-Gigleux; Michael Frank; Neeti Ghali; Cecilia Giunta; Rodney Grahame; Alan Hakim; Xavier Jeunemaitre; Diana Johnson; Birgit Juul-Kristensen; Ines Kapferer-Seebacher; Hanadi Kazkaz; Tomoki Kosho; Mark E Lavallee; Howard Levy; Roberto Mendoza-Londono; Melanie Pepin; F Michael Pope; Eyal Reinstein; Leema Robert; Marianne Rohrbach; Lynn Sanders; Glenda J Sobey; Tim Van Damme; Anthony Vandersteen; Caroline van Mourik; Nicol Voermans; Nigel Wheeldon; Johannes Zschocke; Brad Tinkle Journal: Am J Med Genet C Semin Med Genet Date: 2017-03 Impact factor: 3.908