Item: 1 of 15 ~ 1 • M k -<:J 1>- Jil ~· !:';-~
QIO: 3890 ..L ar Pre v ious Next Lab~lues Notes Calcula t o r
•1
A 29-year-old female is pregnant with a boy. She was diagnosed with a bleeding disorder when she was a teenager and has recur
.2 when brushing her teeth . She has anemia secondary to severe menorrhagia. The patient's mother and grandmother have had sim
the patent's father has no history of any bleeding disorder. The father of the baby boy has no history of any bleeding disorder eith
•3 show a platelet count of 250,000/ mm•, increa sed bleeding time and partial thromboplastin time, but normal prothrombin time.
·4
•5 What Is the probability that the unborn boy will inherit the disease?
•6
A. 0%
.7
·8 B. 25%
.9 c. 50%
• 10
o. 67%
• 11
E. 100%
• 12
• 13
• 14
• 15
a
Lock
, Item: 1 of 15 ~. I • M k <:] t> al ~· ~
QIO: 3890 .l. ar Previous Next lab 'Vfl1 ues Notes Calculator
1
. 2
The co rrect a nswer is c. 6 1% cho se this.
•3 The pregnant woman's history is consistent with von Willebrand disea se (vWD), an autosomal dominant coagulation disorder cha
mucocutaneous bleeding and often menorrhagia in women. Von Willebrand factor (vWF) is involved in plat elet aggregation and i
.4 factor VIII. Thus, a lack of vW F increa ses the partial thromboplastin time and the bleeding time, wherea s plat elet count and pro
•5 normal.
We know that the patient is het erozygous for vW D because there was only a history of the bleeding disorder on her mother's sid
•6
she has one defective allele and one normal allele, there is a 50% chance that she may pass the defective allele her offspring. S
.7 manifest the disea se, he will not pass on a defective allele. Therefore, 50% of the offspring will have 1 defective allele and since
dominant trait, the bleeding disorder will be passed to 50% of her children .
•8
Von Willebrand disease Von Willebrand factor Menorrhagia Prothrombin time Dominance (genetics) Allele Factor VIII Partial thromboplas
•9
Platelet Thrombin Autosome Protein Coagulation Coagulopathy Bleeding time Platelet aggregation Mucocutaneous zone
• 10
A is no t co rrect. 11% cho se this.
· 11 There is a 50% chance the unborn child will have the disea se, not 0% .
• 12 B is no t co rrect. 13 % cho se this •
There is a 50% chance the unborn child will have the disea se, not 25% .
• 13
D is no t co rrect. 1% cho se this •
• 14 There is a 50% chance the unborn child will have the disea se, not 67% .
• 15 E is no t co rrect. 14 % cho se this.
There is a 50% chance the unborn child will have the disea se, not 100% .
Botto m Li ne:
Von Willebrand disea se is an autosomal dominant bleeding disorder. The chance of a person contracting an autosomal-dominan
parent manifests is 50%, assuming the parent with the defective trait is het erozygous for that t ra it.
Von Willebrand disease Dominance (genetics) Heterozygous Autosome Coagulopathy Genetic disorder
6
lock
, Item: 1 of 15 ~. I • M k <:] t> al ~· ~
QIO: 3890 .l. ar Previous Next lab 'Vfl1 ues Notes Calculator
1
. 2
Bottom Line:
Von Willebrand disease is an autosomal dominant bleeding disorder. The chance of a person contracting an autosomal-dominan
•3 parent m anifests is 50%, assuming the parent with the defective trait is heterozygous for that trait .
Von Willebrand disease Dominance (genetics) Heterozygous Autosome Coagulopathy Genetic disorder
.4
•5
•6
lijl;fiiJI•l toryear:[2017 • ]
.7 FI RST AI D FA CTS
•8
•9
Modes of inheritance
• 10
Autosomal dominant Often due to defects in structural genes. Many Often pleiotropic (multiple apparen
· 11
generations, both males and females are effects) and variably expressive (di
• 12
affected. between individuals). Family histo
• 13 to diagnosis. With one affected (h
• 14 parent, on average, Y2 of children
• 15
Autosomal recessive Often due to enzyme deficiencies. Usual ly seen Commonly more severe than domi
in only I generation. patients often present in childhoo
t risk in consanguineous famili es.
'"' ith 2 ca rrier (heterozygous) paren
!4 of ch ildren will be affected (ho
1/., nf roh il rlrfHl u ; ill h P 1"'•3t"I";Dt"C "l nr
6
lock
, Item: 1 of 15 ~ 1 • M k -<:J 1>- Jil ~· !:';-~
QIO: 3890 ..L ar Pre v ious Next Lab~lues Notes Calcula t o r
1 ••• p p }
shows "ragged red fibers" (due to a
.2
of diseased mitochondria).
•3
0 = unaffected male; • = affected male; 0 = unaffected female; e = affected female.
·4
•5
•6
Mixed platelet and coagulation d isorders
.7 DISORDER PC BT PT PIT MECHANISM AND COMMENTS
·8 von Willebrand t -It Intrinsic pathway coaguJation def
.9 disease - t PTf (v\VF acts to carry/pro
• 10 VIII).
• 11
Defect in platelet plug formation:
- defect in platelet-to-v\VF' adh
• 12
utosomal dominant. ~ Tild but m
• 13 inherited bleeding disorder. No
• 14 aggregation with ristocetin cofa
• 15 Treatment: desmopressin, which
,,Wf stored in endothelium.
Disseminated t t t Widespread activation of clotting
intravascular in clotting fa ctors - bleeding st
coagulation Causes: Sepsis (gram 8 ), Trauma
com pi ications, acute Pancreatiti
\lalignancy, J\'ephrotic syndrom
Transfusion (STOP ~ laking ~ e
a
Lock
QIO: 3890 ..L ar Pre v ious Next Lab~lues Notes Calcula t o r
•1
A 29-year-old female is pregnant with a boy. She was diagnosed with a bleeding disorder when she was a teenager and has recur
.2 when brushing her teeth . She has anemia secondary to severe menorrhagia. The patient's mother and grandmother have had sim
the patent's father has no history of any bleeding disorder. The father of the baby boy has no history of any bleeding disorder eith
•3 show a platelet count of 250,000/ mm•, increa sed bleeding time and partial thromboplastin time, but normal prothrombin time.
·4
•5 What Is the probability that the unborn boy will inherit the disease?
•6
A. 0%
.7
·8 B. 25%
.9 c. 50%
• 10
o. 67%
• 11
E. 100%
• 12
• 13
• 14
• 15
a
Lock
, Item: 1 of 15 ~. I • M k <:] t> al ~· ~
QIO: 3890 .l. ar Previous Next lab 'Vfl1 ues Notes Calculator
1
. 2
The co rrect a nswer is c. 6 1% cho se this.
•3 The pregnant woman's history is consistent with von Willebrand disea se (vWD), an autosomal dominant coagulation disorder cha
mucocutaneous bleeding and often menorrhagia in women. Von Willebrand factor (vWF) is involved in plat elet aggregation and i
.4 factor VIII. Thus, a lack of vW F increa ses the partial thromboplastin time and the bleeding time, wherea s plat elet count and pro
•5 normal.
We know that the patient is het erozygous for vW D because there was only a history of the bleeding disorder on her mother's sid
•6
she has one defective allele and one normal allele, there is a 50% chance that she may pass the defective allele her offspring. S
.7 manifest the disea se, he will not pass on a defective allele. Therefore, 50% of the offspring will have 1 defective allele and since
dominant trait, the bleeding disorder will be passed to 50% of her children .
•8
Von Willebrand disease Von Willebrand factor Menorrhagia Prothrombin time Dominance (genetics) Allele Factor VIII Partial thromboplas
•9
Platelet Thrombin Autosome Protein Coagulation Coagulopathy Bleeding time Platelet aggregation Mucocutaneous zone
• 10
A is no t co rrect. 11% cho se this.
· 11 There is a 50% chance the unborn child will have the disea se, not 0% .
• 12 B is no t co rrect. 13 % cho se this •
There is a 50% chance the unborn child will have the disea se, not 25% .
• 13
D is no t co rrect. 1% cho se this •
• 14 There is a 50% chance the unborn child will have the disea se, not 67% .
• 15 E is no t co rrect. 14 % cho se this.
There is a 50% chance the unborn child will have the disea se, not 100% .
Botto m Li ne:
Von Willebrand disea se is an autosomal dominant bleeding disorder. The chance of a person contracting an autosomal-dominan
parent manifests is 50%, assuming the parent with the defective trait is het erozygous for that t ra it.
Von Willebrand disease Dominance (genetics) Heterozygous Autosome Coagulopathy Genetic disorder
6
lock
, Item: 1 of 15 ~. I • M k <:] t> al ~· ~
QIO: 3890 .l. ar Previous Next lab 'Vfl1 ues Notes Calculator
1
. 2
Bottom Line:
Von Willebrand disease is an autosomal dominant bleeding disorder. The chance of a person contracting an autosomal-dominan
•3 parent m anifests is 50%, assuming the parent with the defective trait is heterozygous for that trait .
Von Willebrand disease Dominance (genetics) Heterozygous Autosome Coagulopathy Genetic disorder
.4
•5
•6
lijl;fiiJI•l toryear:[2017 • ]
.7 FI RST AI D FA CTS
•8
•9
Modes of inheritance
• 10
Autosomal dominant Often due to defects in structural genes. Many Often pleiotropic (multiple apparen
· 11
generations, both males and females are effects) and variably expressive (di
• 12
affected. between individuals). Family histo
• 13 to diagnosis. With one affected (h
• 14 parent, on average, Y2 of children
• 15
Autosomal recessive Often due to enzyme deficiencies. Usual ly seen Commonly more severe than domi
in only I generation. patients often present in childhoo
t risk in consanguineous famili es.
'"' ith 2 ca rrier (heterozygous) paren
!4 of ch ildren will be affected (ho
1/., nf roh il rlrfHl u ; ill h P 1"'•3t"I";Dt"C "l nr
6
lock
, Item: 1 of 15 ~ 1 • M k -<:J 1>- Jil ~· !:';-~
QIO: 3890 ..L ar Pre v ious Next Lab~lues Notes Calcula t o r
1 ••• p p }
shows "ragged red fibers" (due to a
.2
of diseased mitochondria).
•3
0 = unaffected male; • = affected male; 0 = unaffected female; e = affected female.
·4
•5
•6
Mixed platelet and coagulation d isorders
.7 DISORDER PC BT PT PIT MECHANISM AND COMMENTS
·8 von Willebrand t -It Intrinsic pathway coaguJation def
.9 disease - t PTf (v\VF acts to carry/pro
• 10 VIII).
• 11
Defect in platelet plug formation:
- defect in platelet-to-v\VF' adh
• 12
utosomal dominant. ~ Tild but m
• 13 inherited bleeding disorder. No
• 14 aggregation with ristocetin cofa
• 15 Treatment: desmopressin, which
,,Wf stored in endothelium.
Disseminated t t t Widespread activation of clotting
intravascular in clotting fa ctors - bleeding st
coagulation Causes: Sepsis (gram 8 ), Trauma
com pi ications, acute Pancreatiti
\lalignancy, J\'ephrotic syndrom
Transfusion (STOP ~ laking ~ e
a
Lock
