Snapshot A 33-year-old female is referred to a neurologist by her primary care physician for unsteady gate, forgetfullness, and recent episodes of Terret-like spells where she will fling one arm out and above her head seemingly unprovoked. One physical exam, the neurologist notices that her irises appear multicolored with concentric rings around the perpiphery. He is concerned for a metabolic disease and orders several laboratory and radiologic studies. In the interim he has advised her to avoid eating chocolate and shellfish. Introduction Free copper accumulation in many tissues (liver, brain, cornea, joints) also known as hepatolenticular degeneration mutation in ATP7B results in inadequate copper excretion by liver into bile failure of copper to enter circulation bound to ceruloplasmin ceruloplasmin is the transport protein for copper (like transferrin for Fe) copper bound to ceruloplasmin normally represents the largest fraction of copper in the body free copper generates free radicals that damage tissues see Metabolism of copper topic AR inheritance Presentation Symptoms Parkinson-like symptoms secondary to copper desposits in putamen hemiballismus secondary to copper desposits in subthalamic nucleus dementia secondary to copper desposits in cerebral cortex Physical exam cirrhosis corneal deposits on slit lamp examination Kayser-Fleischer rings RARELY seen in other conditions that may result in increased copper such as primary billiary cirrhosis Evaluation Labs ↓ total serum copper due to ↓ ceruloplasmin ↑ serum non-ceruloplasmin bound copper ↑ urine/serum free copper hemolytic anemia Liver Biopsy If performed will show increased hepatic copper Treatment Medical ammonium tetrathiomolybdate facilitates urinary excretion of copper penicillamine copper chelating agent trientine copper chelating agent zinc competes with copper for absorbtion in the gut via the same transporter Surgical Consider liver transplantation as clinical condition deteriorates Prognosis, Prevention, and Complications At risk for liver disease hepatitis cirrhosis carcinoma (hepatocellular) Also at risk for Fanconi's disease of the proximal tubules
QUESTIONS 1 of 8 1 2 3 4 5 6 7 8 Previous Next Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK (M1.GI.13.138) A 31-year-old male with cirrhosis, dementia, and Parkinson-like symptoms is diagnosed with a hereditary metabolic disease resulting from the accumulation of a certain metal in various tissues. Impairment of which of the following elimination pathways is most likely responsible? Tested Concept QID: 101195 Type & Select Correct Answer 1 Secretion into bile 66% (59/90) 2 Loop of Henle secretion into lumen of kidney 6% (5/90) 3 Glomerular filtration 9% (8/90) 4 Bleeding 3% (3/90) 5 Duodenal secretion 11% (10/90) M 1 Question Complexity D Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 1 Review tested concept (M1.GI.13.114) A 14-year-old Caucasian male patient found to have low serum copper, high urine copper, and low serum ceruloplasmin is placed on penicillamine for management of his genetic disorder. Which of the following is LEAST consistent with this patient's clinical picture? Tested Concept QID: 101171 Type & Select Correct Answer 1 Kinky, easily breakable hair 51% (37/72) 2 Cirrhosis 7% (5/72) 3 Hemiballismus 21% (15/72) 4 Corneal deposits 6% (4/72) 5 Parkinson-like symptoms 7% (5/72) M 1 Question Complexity E Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 1 Review tested concept (M1.GI.13.168) A 15-year-old Caucasian female presents with Parkinson-like symptoms. Serum analysis shows increased levels of free copper and elevated liver enzymes. What test would prove most helpful in diagnosing the patient's underlying disease? Tested Concept QID: 101225 Type & Select Correct Answer 1 Serum detection of anti-myelin antibodies 8% (7/89) 2 Slit lamp examination 65% (58/89) 3 Vitamin B12 test 16% (14/89) 4 CT scan 3% (3/89) 5 Reflex test 3% (3/89) M 2 Question Complexity E Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 2 Review tested concept Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK