WBR0952

Author	[[PageAuthor::Mugilan Poongkunran M.B.B.S [1]]]
Exam Type	ExamType::USMLE Step 3
Main Category	MainCategory::Primary Care Office
Sub Category	SubCategory::Hepatology
Prompt	[[Prompt::A 43 year old male, comes to the office with complaints of severe fatigue and lethargy over the past 1 month. On further review of history, he says he had intermittent fatigue, lethargy, nausea, abdominal pain and joint pains for several years to which he never consulted a doctor. He also says he has loss of libido and erectile dysfunction for the past few years. His family history is unremarkable. He does not smoke and drink. His temperature is 36.7 C, blood pressure is 130/70 mmHg, pulse is 72/min and respiration's are 16/min. Abdominal examination reveals profound hepatomegaly. His skin has golden blue hue. The patient is admitted and treated suppourtively. His serum biochemistry results shows Na:135 mEq/L, K: 3.5 mEq/L, Cl:104mEq/L, Bi: 24 mEq/L, BUN: 30 mg/dl, glucose:226 mg/dl, Mg:1mg/dl and Ca: 8mg/dl. His tranferrin saturation is 72%, serum ferritn is 500 ng/ml and serum iron levels are 300 µg/dl. Liver function tests are bilirubin: 1.5 mg/dl, AST : 100 IU/L , ALT : 122 IU/L, serum albumin 3.5 g/dl and prothrombin time : 11 sec. What is the best appropriate treatment for this patient?]]
Answer A	AnswerA::Deferoxamine
Answer A Explanation	[[AnswerAExp:: Incorrect  : Chelation therapy for hemochromatosis (eg, with deferoxamine or deferasirox) can lead to clinical and/or laboratory improvement. However, it is almost never necessary because of the ease and efficacy of phlebotomy compared with chelation therapy.]]
Answer B	AnswerB::Liver transplant
Answer B Explanation	[[AnswerBExp:: Incorrect  : The presence or absence of cirrhosis appears to be a major determinant of prognosis in hemochromatosis. This patient doesn’t have a decompensated liver disease that warrents liver transplantation at this point.]]
Answer C	AnswerC::D-penicillamine
Answer C Explanation	[[AnswerCExp:: Incorrect  : D-Penicillamine contains a free sulfhydryl group that functions as a copper chelating moiety and is used in Wilson’s disease.]]
Answer D	AnswerD::Phlebotomy
Answer D Explanation	[[AnswerDExp:: Correct  : The simplest, cheapest, and most effective way to remove accumulated iron in non-anemic patients with iron overload is via therapeutic phlebotomy. Each 500 mL of whole blood removed contains 200 to 250 mg of iron. In providing replacement for the hemoglobin lost along with the phlebotomized red cells, the body mobilizes an equal amount of iron from tissue stores, thereby reducing the degree of iron overload.]]
Answer E	AnswerE::Dietary iron restriction
Answer E Explanation	AnswerEExp::''' Incorrect ''' : Dietary modifications would have very little impact on total body iron stores even if no foods containing iron are consumed.
Right Answer	RightAnswer::D
Explanation	[[Explanation::Hemochromatosis is a hereditary disease characterized by improper dietary iron metabolism (making it an iron overload disorder), which causes the accumulation of iron in a number of body tissues. Iron accumulation can eventually cause end organ damage, most importantly in the pancreas manifesting as diabetes, and liver failure. Early indications of hemochromatosis are often like those of fatigue (feeling very tired), weakness, weight loss, abdominal pain, joint pain. As iron builds up in the body organs, hemochromatosis may also produce loss of menstrual periods or early menopause, loss of sex drive (libido) or impotence, loss of body hair and shortness of breath. As the disease progresses, hemochromatosis may cause arthritis, abdominal pain that does not go away, severe fatigue, heart failure symptoms, gray-colored or bronze-colored skin and deafness. Educational Objective: References: ]]
Approved	Approved::Yes
Keyword	WBRKeyword::Hemochromatosis
Linked Question	Linked::
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