In the name of GodIn the name of God

Case presentation

• The 18 year old Iranian man previously diagnosed hemophilia…

• with family history of consanguinity presented for excessive upper GI bleeding.

• Positive history prolonged bleeding after teeth extraction excessive bruising since childhood hemarthrosis , nose bleeding,

• Have been treated for episodes of excessive bleeding with FFP and F VIII during hospitalization..

• His sister who experienced excessive bleeding menorhagia remained undiagnosed.

DIFFRENTIAL DIAGNOSIS

• LUPUS ANTICOAGULANT• IF FVIII IS LOW OTHER INTITIES NEEDED TO BE

CONCIDER BEFORE DIAGNOSE( HA)• SAMPLE CLOTTED,WHOLE blood has BEEN

KEPT ON ICE.• VWD WHEN SEVER ENOUGH,CAUSE LOW FVIII.• NORMAL VWF DONOT EXCLUDE TYPE 2N VWD

WHICH IS CHARECTRIZED BY A FVIII:C 5-40% OF NORMAL.WHICH CAN BE DISTINGUISHED FROM (HA) BY INHERITANCE PATTERN,OR BY FVIII-BINDING ASSAY,GENETIC TESTS.

Coagulant factordeficiency

Laboratory phenotype

Severe Moderate Mild

Coagulant activity

Fibrinogen undetectable clot ≤0,1 g/L >0,1 g/L

FII undetectable activity ≤10% >10%

FV undetectable activity 10% ≥10%

FV+FVIII <20% 20-40% >40%

FVII <10% 10-20% >20%

FX <10% 10-40% >40%

FXIII undetectable activity 30% ≥30%

LEGENDSEVERE: coagulant activity associated with spontaneous major bleedingMODERATE : coagulant activity associated with mild spontaneous or triggered bleedingMILD: coagulant activity associated with a mostly asymptomatic disease course

Based on Review of the literature (1990-2012) and 4 databases/registries (EN-RBD; NARBDR; UKHCDO; Indian Tertiary Centre Registry)

1

Points to remember• Clinical and family histories pertaining to bleeding abnormalities are extremely important in evaluating hereditary coagulation disorders.• Further laboratory investigation is necessary when supposed diagnoses, family history , and results of initial laboratory studies are inconsistent.• Although rae,F5F8D should be suspected in patients who claim to have hemophilia and have prolonged PT and a PTT , particularly if they are Middle Eastern heritage and/or family history of consanguinity .It is therefore necessary to include F5 and FVIII in testing for unexplained factor deficiencies in the setting of prolongation both PT and a PTT.• IN patients with F5F8D and an acute bleeding episode , both F5 and F8 to be replaced. FFP must be given to replace F5 because no other source of F5 is currently available.

Points to remember• Clinical and family histories pertaining to bleeding abnormalities are extremely important in evaluating hereditary coagulation disorders.• Further laboratory investigation is necessary when supposed diagnoses, family history , and results of initial laboratory studies are inconsistent.• Although rae,F5F8D should be suspected in patients who claim to have hemophilia and have prolonged PT and a PTT , particularly if they are Middle Eastern heritage and/or family history of consanguinity .It is therefore necessary to include F5 and FVIII in testing for unexplained factor deficiencies in the setting of prolongation both PT and a PTT.• IN patients with F5F8D and an acute bleeding episode , both F5 and F8 to be replaced. FFP must be given to replace F5 because no other source of F5 is currently available.