Baylor University Medical Center Proceedings April 2014, Volume 27, Number 2 | Page 42

Celiac artery disease and fatal rupture of a hepatic artery aneurysm in the Ehlers-Danlos syndrome Amritpal Nat, MD, Tanya George, MD, Gregory Mak, MPH, Amit Sharma, MD, MPH, Amitpal Nat, MD, and Robert Lebel, MD Isolated visceral arteriopathies of the celiac and hepatic artery are rare. We present a case of a Caucasian man who presente d with abdominal pain and was found to have a spontaneous celiac artery dissection. Genetic analysis revealed a mutation consistent with Ehlers-Danlos syndrome type IV. The patient died 2 months later from a spontaneous rupture of his hepatic artery. Table. Patient laboratory values Test Result 116 138 Potassium (mmol/L) 3.7 Chloride (mmol/L) 102 Bicarbonate (mmol/L) CASE REPORT A 31-year-old man with fragile, easily bruisable skin, abnormal (atrophic) scarring, joint hypermobility, and extensive varicosities of the legs presented with sudden onset of left upper quadrant abdominal pain. His blood pressure was 146/75 mm Hg and heart rate, 114 beats/ min. The epigastric region was tender and the left upper quadrant of his abdomen was soft. His joints were hypermobile, his skin over the chest was translucent, and severe varicose veins were present on his lower torso and lower extremities. A complete blood count, basic metabolic panel, liver function tests, activated partial thromboplastin time, prothrombin time/international normalized ratio, and amylase and lipase levels were within normal limits (Table). An electrocardiogram showed only sinus tachycardia, and an echocardiogram was normal. Computed tomography (CT) of the abdomen revealed high-density fluid around the pancreas and spleen. A serologic workup for a vasculitis was negative. Due to a normal amylase and lipase level and persistent abdominal pain, a CT angiogram of the thorax and abdomen was performed and revealed a celiac artery dissection with associated thrombus extending into the splenic artery (Figure). The spleen was infarcted. The patient was managed with anticoagulation by continuous heparin infusion and metoprolol. He responded well to conservative management and was discharged home. There was a clinical suspicion of Ehlers-Danlos syndrome (EDS) type IV. The patient’s paternal grandmother also had extensive varicosities. Molecular studies revealed a mutation in the COL3A1 gene, which is consistent with the diagnosis of EDS type IV. Approximately 2 months after hospital discharge, the patient complained once again of sudden onset of severe abdominal Sodium (mmol/L) 28 Blood urea nitrogen (mg/dL) 11 Creatinine (mg/dL) 0.7 Glucose (mg/dL) 116 Alanine aminotransferase (U/L) 27 Aspartate aminotransferase (U/L) 21 Bilirubin total (mg/dL) 0.25 Lipase (U/L) 26 Amylase (U/L) 78 White blood cells (K/μL) 15.1 Hematocrit (%) 42.8 Hemoglobin (%) 15.2 Platelet (K/μL) 321 International normalized ratio 1.0 Partial thromboplastin time (seconds) 25 Antineutrophil cytoplasmic antibodies Negative Antinuclear antibody Negative pain. As he and his wife were on their way to the car to drive to the emergency department, he collapsed and died. Autopsy revealed a ruptured hepatic artery aneurysm with 2.5 to 3 L of fresh blood in the peritoneal cavity. Their infant son did not have the COL3A1 mutation. From State University of New York Upstate Medical University, Syracuse, New York. Corresponding author: Amritpal Nat, MD, State University of New York Upstate Medical University, 750 East Adams Street, Syracuse, NY 13210-2375 (e-mail: [email protected]). Proc (Bayl Univ Med Cent) 2014;27(2):116–117