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Boards.CP.Coagulation > HemophiliaA/B and Factor Deficiencies > Flashcards

HemophiliaA/B and Factor Deficiencies Flashcards

1
Q

Hemophilia A:

-Inheritance

A

X-linked recessive

-30% are sporadic

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2
Q

Hemophilia A - Severity Classification:

-Severe (2)

A
  • Spontaneous bleeding occurs

- F8 levels <1.0 U/dL (1%)

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3
Q

Hemophilia A - Severity Classification:

-Moderate (2)

A
  • Excessive bleeding w/ minor trauma

- F8 levels 1-5 U/dL

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4
Q

Hemophilia A - Severity Classification:

-Mild

A
  • Excessive bleeding following surgery or major trauma

- F8 levels >5 U/dL

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5
Q

Hemophilia A - Laboratory Findings:

  • Platelets
  • PT
  • TT
  • aPTT
A

Hemophilia A - Laboratory Findings:

  • Platelets - wnl
  • PT - wnl
  • TT - wnl
  • aPTT - Prolonged
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6
Q

T/F: In Hemophilia A the prolonged aPTT corrects completely in the 1:1 mixing study.

A

True

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7
Q

Hemophilia A - Female Carriers:

  • F8 Activity
  • F8:vWF ratio
  • aPTT
  • Abnormal Bleeding
A

Hemophilia A - Female Carriers:

  • F8 Activity - >50%
  • F8:vWF ratio ~1:2 (normal 1:1)
  • aPTT - wnl
  • Abnormal Bleeding - None
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8
Q

Hemophilia A - Factor VIII (8) gene.

-Size

A

Xq28

-Large, 26 exons

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9
Q

What mutation is seen in 40-45% of severe hemophilia A in Caucasions?

A

Single Inversion mutation of intro22

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10
Q

Antibodies to FVIII develop in what percentage of patients who receive FVIII replacement therapy?

A

33%

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11
Q

What 2 patient groups (nonhemophiliacs) does antibodies to FVIII develop?
-Effect

A

Elderly Adults/Postpartum

-Severe bleeding

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12
Q

What factor is deficient in Hemophilia B (Christmas disease)?
-Inheritance

A 
Factor IX (9)
-X-linked recessive
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13
Q

Hemophilia B - Laboratory Findings:

  • Platelets
  • PT
  • TT
  • aPTT
A

Hemophilia B - Laboratory Findings:

  • Platelets - wnl
  • PT - wnl
  • TT - wnl
  • aPTT - Prolonged
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14
Q

Which Hemophilia (A or B) can be detected at Birth?

A

Hemophilia A
-F8 should be normal at birth

Hemophilia B
-F9 is normally low at birth

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15
Q

What type of Hemophilia B is characterized by spontaneous remission following puberty?

A

Factor IX Leiden

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16
Q

Isolated Inherited Factor Deficiencies (II,V,VII,X,XI).

-Inheritance

A

Autosomal Recessive

17
Q

Isolated Inherited Factor Deficiencies (II,V,VII,X,XI).

-Most common

A

Factor VII (7)

18
Q

Factor VII deficiency - Lab finding.

A

Isolated prolongation of PT

19
Q

Factor V (5) deficiency - Lab findings:

  • PT
  • PTT
  • TT
A

Factor V (5) deficiency - Lab findings:

  • PT - prolonged
  • PTT - prolonged
  • TT - wnl
20
Q

Factor X (10) deficiency - Lab findings:

  • PT
  • PTT
  • DRVVT
  • TT
A

Factor X (10) deficiency - Lab findings:

  • PT - prolonged
  • PTT - prolonged
  • DRVVT - prolonged
  • TT - wnl
21
Q

Factor XI (11) deficiency:

  • What population
  • Associated w/ syndrome
A
  • Ashkenazi Jews (5-10% gene frequency)

- Noonan syndrome

22
Q

This factor deficiency is associated with delayed bleeding, umbilical stump bleeding, frequent miscarriages, delayed wound healing, and formation of hypertrophic scars?

A

Factor XIII (13) deficiency (Heterozygotes)

23
Q

Homozygous Factor XIII (13) deficiency:

-Complications (3)

A
  • Severe bleeding diathesis
  • Life-threatening umbilical stump bleeding
  • Intracranial bleeds
24
Q

What is the most common combined factor deficiency?

A

Factor V and Factor VIII

F5/F8

25
Q

What gene is responsible for Combined Factor V and Factor VIII Deficiency?

A

LMAN1 (ERGIC-53)

26
Q

What are the quantitative fibrinogen abnormalities called?

A

Afibrinogenemia and Hypofibrinogenemia

27
Q

What is the qualititative fibrinogen abnormality called?

A

Dysfibrinogenemia

28
Q

Qualitative fibrinogen defects (Dysfibrinogenemia) cause what?

A

Bleeding or Thrombosis

29
Q

What is the most common 1st manifestation of inherited Afibrinogenemia and Hypofibrinogenemia (quantitative defects)?

A

Umbilical cord hemorrhage

30
Q

Congenital afibrinogenemia is associated with what lab values?
-similar clinical manifestations as

A

Prolonged PT and aPTT (Immeasurable)

-Moderate/Severe Hemophilia A

31
Q

What acquired factor deficiency is sometimes found in patients with amyloidosis?

A

Factor X (10)

32
Q

Vitamin K is necessary for what?

A

y-carboxylation of factors 2,7,9,10,protein C/S

33
Q

Of the Vitamin K dependent coagulation factors, which has the shortest halflife?
-2nd

A 
Factor 7 (VII)
-2-5 hrs

Protein C
-6-8 hrs

34
Q

What is the most sensitive test for DIC?

-Specific?

A

Sensitive:
-D-dimer

Specific:
-Fibrinogen

Boards.CP.Coagulation (7 decks)

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