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{{WBRQuestion
{{WBRQuestion
|QuestionAuthor={{Rim}}
|QuestionAuthor= {{YD}} (Reviewed by  {{YD}} and  {{AJL}})
|ExamType=USMLE Step 1
|ExamType=USMLE Step 1
|MainCategory=Pathology
|MainCategory=Pathology
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|MainCategory=Pathology
|MainCategory=Pathology
|SubCategory=Hematology
|SubCategory=Hematology
|MainCategory=Pathology
|MainCategory=Pathology
|MainCategory=Pathology
|MainCategory=Pathology
|MainCategory=Pathology
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|MainCategory=Pathology
|MainCategory=Pathology
|SubCategory=Hematology
|SubCategory=Hematology
|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?
|Prompt=A 12-year-old African-American boy with a history of beta-thalassemia major is brought to the physician's office for bone marrow transplantation (BMT) work-up. The patient Liver biopsy is performed to calculate Pesaro class risk for the patient prior to BMT. Which of the following findings is most likely observed on liver biopsy?
|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.
|Explanation=[[Beta-thalassemia major]] is an inherited hemoglobinopathy characterized by the absent production of a [[beta-globin]] chain of the [[hemoglobin]] tetramer. It commonly results from a point mutation in [[splice sites]] or [[promoter]] sequences. Beta-thalassemia major manifests as severe [[anemia]] and subsequent ineffective [[erythropoiesis]], which eventually cause [[bone marrow]] expansion. The majority of cases of [[Beta-thalassemia]] major are reported in the Mediterranean region, Africa, and Southeast Asia. In individuals with [[beta-thalassemia major]], chronic [[red cell transfusions]] are considered the optimal therapy for symptomatic management. However, repeated transfusions are associated with [[iron overload]], which requires the administration of iron-chelating therapy, frequently with [[deferoxamine]]. Bone marrow transplant is the only cure for patients with [[beta-thalassemia major]].  Pesaro classification, a detailed pre-BMT evaluation often used to predict outcomes following transplant, evaluates three independent risk factors: [[Hepatomegaly]] on physical examination, [[portal fibrosis]] on [[liver biopsy]], and adequacy of iron chelation.
 
|AnswerA=Hepatocyte accumulation of copper
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.  
|AnswerAExp=The accumulation of cupper frequently occurs in [[Wilson's disease]].
 
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.
|AnswerA=Hepatocyte accumulation of cupper
|AnswerAExp=Accumulation of cupper occurs in Wilson's disease.
|AnswerB=Hepatocyte accumulation of iron
|AnswerB=Hepatocyte accumulation of iron
|AnswerBExp=Accumulation of iron occurs following recurrent transfusions required for thalassemia major and in hemochromatosis.
|AnswerBExp=The accumulation of iron frequently occurs following recurrent transfusions, administered to patients with thalassemia major or hemochromatosis.
|AnswerC=Hepatocyte accumulation of lead
|AnswerC=Hepatocyte accumulation of lead
|AnswerCExp=Lead is not commonly accumulated in the liver.
|AnswerCExp=Lead does not frequently accumulate in the livers of individuals with thalassemia major.
|AnswerD=Hepatocyte accumulation of calcium
|AnswerD=Hepatocyte accumulation of calcium
|AnswerDExp=Thalassemia is not associated with calcium accumulation.
|AnswerDExp=Thalassemia major is not associated with calcium accumulation.
|AnswerE=Hepatocyte accumulation of lipids
|AnswerE=Hepatocyte accumulation of lipids
|AnswerEExp=Hepatic steatosis, or accumulation of lipids in the liver, is a finding in chronic alcoholic use
|AnswerEExp=[[Hepatic steatosis]], or accumulation of lipids in the liver, is associated with chronic [[alcoholism]].
|EducationalObjectives=[[Beta-thalassemia major]], a hematological inherited disorder, is characterized by the absent or reduced production of beta-chains of hemoglobin proteins.  Recurrent [[red cell transfusions]], a symptomatic treatment, are associated with iron accumulation, which necessitates the administration of iron-chelation therapy.
|References=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.
|RightAnswer=B
|RightAnswer=B
|WBRKeyword=beta, thalassemia, beta-thalassemia, mediterranean, inherited, disorder, liver, hepatocyte, iron, accumulation, deferoxamine, overload, bone, marrow, transplant, bone marrow transplant, Pesaro, class, risk, classification
|WBRKeyword=Beta-thalassemia, Mediterranean, inherited, Liver, Hepatocyte, Iron accumulation, Deferoxamine, Bone marrow transplant, Pesaro, Transfusions, BMT
|Approved=No
|Approved=Yes
}}
}}

Latest revision as of 00:41, 28 October 2020
Author [[PageAuthor::Yazan Daaboul, M.D. (Reviewed by Yazan Daaboul, M.D. and Alison Leibowitz [1])]]
Exam Type ExamType::USMLE Step 1
Main Category MainCategory::Pathology
Sub Category SubCategory::Hematology
Prompt [[Prompt::A 12-year-old African-American boy with a history of beta-thalassemia major is brought to the physician's office for bone marrow transplantation (BMT) work-up. The patient Liver biopsy is performed to calculate Pesaro class risk for the patient prior to BMT. Which of the following findings is most likely observed on liver biopsy?]]
Answer A AnswerA::Hepatocyte accumulation of copper
Answer A Explanation [[AnswerAExp::The accumulation of cupper frequently occurs in Wilson's disease.]]
Answer B AnswerB::Hepatocyte accumulation of iron
Answer B Explanation AnswerBExp::The accumulation of iron frequently occurs following recurrent transfusions, administered to patients with thalassemia major or hemochromatosis.
Answer C AnswerC::Hepatocyte accumulation of lead
Answer C Explanation AnswerCExp::Lead does not frequently accumulate in the livers of individuals with thalassemia major.
Answer D AnswerD::Hepatocyte accumulation of calcium
Answer D Explanation AnswerDExp::Thalassemia major 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 associated with chronic alcoholism.]]
Right Answer RightAnswer::B
Explanation [[Explanation::Beta-thalassemia major is an inherited hemoglobinopathy characterized by the absent production of a beta-globin chain of the hemoglobin tetramer. It commonly results from a point mutation in splice sites or promoter sequences. Beta-thalassemia major manifests as severe anemia and subsequent ineffective erythropoiesis, which eventually cause bone marrow expansion. The majority of cases of Beta-thalassemia major are reported in the Mediterranean region, Africa, and Southeast Asia. In individuals with beta-thalassemia major, chronic red cell transfusions are considered the optimal therapy for symptomatic management. However, repeated transfusions are associated with iron overload, which requires the administration of iron-chelating therapy, frequently with deferoxamine. Bone marrow transplant is the only cure for patients with beta-thalassemia major. Pesaro classification, a detailed pre-BMT evaluation often used to predict outcomes following transplant, evaluates three independent risk factors: Hepatomegaly on physical examination, portal fibrosis on liver biopsy, and adequacy of iron chelation.

Educational Objective: Beta-thalassemia major, a hematological inherited disorder, is characterized by the absent or reduced production of beta-chains of hemoglobin proteins. Recurrent red cell transfusions, a symptomatic treatment, are associated with iron accumulation, which necessitates the administration of iron-chelation therapy.
References: 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.]]

Approved Approved::Yes
Keyword WBRKeyword::Beta-thalassemia, WBRKeyword::Mediterranean, WBRKeyword::inherited, WBRKeyword::Liver, WBRKeyword::Hepatocyte, WBRKeyword::Iron accumulation, WBRKeyword::Deferoxamine, WBRKeyword::Bone marrow transplant, WBRKeyword::Pesaro, WBRKeyword::Transfusions, WBRKeyword::BMT
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