WBR0471

Author	[[PageAuthor::Rim Halaby, M.D. [1]]]
Exam Type	ExamType::USMLE Step 1
Main Category	MainCategory::Pathology
Sub Category	SubCategory::Hematology
Prompt	[[Prompt::A 12 year old Italian male patient with a history of beta-thalassemia major is brought to the physician's office for routine bone marrow transplantation (BMT) work-up. Liver biopsy is thus performed to calculate Pesaro class risk for the patient pre-BMT. Which of the following findings is expected to be present in this patient's liver biopsy?]]
Answer A	AnswerA::Hepatocyte accumulation of cupper
Answer A Explanation	AnswerAExp::Accumulation of cupper occurs in Wilson's disease.
Answer B	AnswerB::Hepatocyte accumulation of iron
Answer B Explanation	AnswerBExp::Accumulation of iron occurs following recurrent transfusions required for thalassemia major and in hemochromatosis.
Answer C	AnswerC::Hepatocyte accumulation of lead
Answer C Explanation	AnswerCExp::Lead is not commonly accumulated in the liver.
Answer D	AnswerD::Hepatocyte accumulation of calcium
Answer D Explanation	AnswerDExp::Thalassemia is not associated with calcium accumulation.
Answer E	AnswerE::Hepatocyte accumulation of lipids
Answer E Explanation	AnswerEExp::Hepatic steatosis, or accumulation of lipids in the liver, is a finding in chronic alcoholic use
Right Answer	RightAnswer::B
Explanation	[[Explanation::Beta-thalassemia major is an inherited hematological disorder characterized by the reduced or absent production of beta-globin chain of hemoglobin proteins due to point mutation in splice sites and promoter sequences. It manifests as severe anemia and subsequent ineffective erythropoiesis that eventually causes bone marrow expansion. Most cases of beta-thalassemia major are reported in the Mediterranean region, Africa, and Southeast Asia; wheere incidence may be as high as 10% in some of these regions. Chronic red cell transfusions is currently considered the classical therapy for beta-thalassemia major that relieves symptoms. Repeated transfusions, however, are associated with iron overload that requires iron-chelating therapy, commonly with deferoxamine. Bone marrow transplant is considered the only cure for patients with thalassemia major. Pesaro classification is a detailed pre-BMT evaluation that can predict outcomes following transplant. It is based on 3 independent risk factors: Hepatomegaly on physical examination, portal fibrosis on liver biopsy, and inadequacy of iron chelation therapy. Educational Objective: Beta-thalassemia major is a hematological inherited disorder characterized by the absent or reduced production of beta-chains of hemoglobin protein. Recurrent transfusions are considered a classical symptomatic treatment that is associated with iron accumulation requiring iron chelation therapy. Reference: Lucarelli G, Galimberti M, Polchi P, et al. Marrow transplantation in patients with thalassemia responsive to iron chelation therapy. N Eng J Med. 1993;329:840-4. Educational Objective: References: ]]
Approved	Approved::No
Keyword	WBRKeyword::beta, WBRKeyword::thalassemia, WBRKeyword::beta-thalassemia, WBRKeyword::mediterranean, WBRKeyword::inherited, WBRKeyword::disorder, WBRKeyword::liver, WBRKeyword::hepatocyte, WBRKeyword::iron, WBRKeyword::accumulation, WBRKeyword::deferoxamine, WBRKeyword::overload, WBRKeyword::bone, WBRKeyword::marrow, WBRKeyword::transplant, WBRKeyword::bone marrow transplant, WBRKeyword::Pesaro, WBRKeyword::class, WBRKeyword::risk, WBRKeyword::classification
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