A 2-year-old boy with normal size, weight, and development is brought to the physician because of a painful, swollen left knee for the past week. He has had two episodes of asymptomatic hematuria during the past 6 months. Both parents are healthy. He has achieved developmental milestones at appropriate ages. His height and weight are at the 70th percentile. Examination shows bruises and resolving hematomas on both elbows and signs of cutaneous hemorrhages at the site of a deep splinter. Laboratory studies show:
Hemoglobin 12 g/dL
Erythrocyte count normal
Leukocyte count normal
Bleeding time normal
Partial thromboplastin time increased
The most likely diagnosis can be proven by the therapeutic response to a single injection of which of the following materials?
A. Factor I (fibrinogen)
B. Factor VIII (antihemophilic factor)
C. Factor IX (plasma thromboplastin component)
D. Folic acid
E. Vitamin K
is it c? Looks like Christmas disease or hemophilia B and hence would respond to Factor IX.
why not b?
Malvika how do you come in dx of christmas disease as there is no factor assay result is mention there. pl correct m,e
i think its C because the history is suggestive of hemophilia n moreover prolonged PPT is seen in def of factors 2,5,7 ,9,10.
srik,I'm sorry but you are completely "out of date"!!!see what is you write ...PTT prolonged in factors 2,5,7,9,10?!!!!!plase think ,then write
Guys -
Anyone bothered about the real answer than Spelling Mistakes post their views ?
From the Q stem, I think the patient is Hemophilia. (A and B both possible)
Only "the board people" know the rihgt anwser i guess.
The following is from Harrison online:
Hemophilia A must be distinguished from other hereditary blood clotting factor deficiencies that exhibit a prolonged aPTT, including deficiencies of factors IX, XI, and XII, prekallikrein, and high molecular weight kininogen. Only deficiencies of factors VIII and IX cause chronic crippling hemarthroses with a family history suggestive of an X-linked bleeding disorder. Only specific assays can distinguish hemophilia A from factor IX deficiency (hemophilia B).
Hemophilia B (Christmas disease, factor IX hemophilia) is a hereditary bleeding disorder due to deficiency of coagulation factor IX. Most commonly, factor IX is quantitatively reduced, but in one-third of cases an abnormally functioning molecule is immunologically present. Factor IX deficiency is one-seventh as common as factor VIII deficiency hemophilia but is otherwise clinically and genetically identical.
The PTT is prolonged, and factor IX levels are reduced when measured by specific factor assays. Other laboratory features are the same as for factor VIII hemophilia.
(From Harrision online)
the answer is B.... Pick the most common one on boards....hemophilia B is less common...
answer is e.
typical clinical picture of deficiencey of vit. k - easy bruisability, bleeding and mucosal bleeding. Vit. K controls the formation of coagul. factor II prothrombin, VII proconvert, IX Christmas factor, plasma thromboplastin component; factor X in the liver.
Lab. results would show prolonged PT and PTT.
Thank you iren. I agree with you.
I was puzzled before.