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Congenital Coagulopathies Flashcards

1
Q

Who first described Von Willebrand Disease (VWD) and in what year?

A

Finnish Professor Erik von Willebrand in 1926

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2
Q

What type of mutations cause Von Willebrand Disease (VWD)?

A

Germline mutations affecting Von Willebrand Factor (VWF)

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3
Q

What is the estimated prevalence of Von Willebrand Disease (VWD) in the general population?

A

About 1%

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4
Q

Does Von Willebrand Disease (VWD) affect one sex more than the other?

A

No, it affects both sexes equally

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5
Q

How does Von Willebrand Factor (VWF) abnormality contribute to bleeding?

A

Reduces platelet adhesion, leading to mucocutaneous hemorrhage

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6
Q

What additional deficiency occurs in severe Von Willebrand Disease (VWD)?

A

Factor 8 deficiency

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7
Q

What type of bleeding occurs in severe Von Willebrand Disease (VWD)?

A

Soft tissue bleeding along with mucocutaneous bleeding

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8
Q

What is the most common type of Von Willebrand Disease (VWD)?

A

Type 1 VWD

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9
Q

What is the primary defect in Type 1 Von Willebrand Disease (VWD)?

A

Quantitative deficiency of Von Willebrand Factor (VWF)

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10
Q

What is a common bleeding symptom in women with Type 1 Von Willebrand Disease (VWD)?

A

Menorrhagia

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11
Q

What is the primary defect in Type 2 Von Willebrand Disease (VWD)?

A

Qualitative abnormalities in Von Willebrand Factor (VWF)

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12
Q

What is the defect in Subtype 2A Von Willebrand Disease (VWD)?

A

Reduced platelet adhesion due to smaller multimers

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13
Q

What is the distinguishing feature of Subtype 2B Von Willebrand Disease (VWD)?

A

Increased affinity of Von Willebrand Factor (VWF) for platelet glycoprotein Ib/IX/V

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14
Q

What is the main defect in Subtype 2M Von Willebrand Disease (VWD)?

A

Reduced platelet receptor binding with normal multimeric patterns

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15
Q

What is the functional defect in Subtype 2N (Normandy Variant) Von Willebrand Disease (VWD)?

A

Impaired Factor 8 binding

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16
Q

Which bleeding disorder does Subtype 2N (Normandy Variant) Von Willebrand Disease (VWD) resemble?

A

Autosomal hemophilia

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17
Q

What is the inheritance pattern of Type 3 Von Willebrand Disease (VWD)?

A

Autosomal recessive

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18
Q

What is the severity of bleeding in Type 3 Von Willebrand Disease (VWD)?

A

Severe mucocutaneous and anatomic hemorrhage

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19
Q

What is the characteristic laboratory finding in Type 3 Von Willebrand Disease (VWD)?

A

Absent or nearly absent Von Willebrand Factor (VWF) in plasma

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20
Q

What are the three standard tests in the Von Willebrand Disease (VWD) test panel?

A

Quantitative Von Willebrand Factor (VWF) test
Von Willebrand Factor (VWF) activity test
Factor VIII activity assay

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21
Q

What specialized test measures platelet aggregation induced by a low dose of ristocetin?

A

Low-dose ristocetin-induced platelet aggregometry (RIPA)

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22
Q

What laboratory technique is used to analyze Von Willebrand Factor (VWF) multimers?

A

Electrophoresis

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23
Q

Name two factors that can influence Von Willebrand Factor (VWF) activity levels in testing.

A

ABO blood group
Inflammation

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24
Q

What is an alternative test to measure Von Willebrand Factor (VWF) function?

A

Von Willebrand Factor (VWF) collagen binding assay

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25
What is the defining characteristic of Hemophilia A?
Congenital single-factor deficiency of Factor 8
26
What is the prevalence of Hemophilia A?
1 in 10,000 individuals
27
What percentage of hemophilia cases are due to Factor VIII deficiency (Hemophilia A)?
85%
28
What percentage of hemophilia cases are due to Factor IX deficiency (Hemophilia B)?
14%
29
What percentage of hemophilia cases are due to deficiencies in other coagulation factors (e.g., Factors 2, 5, 7, 10, 11 and 13)?
1%
30
On which chromosome is the Factor VIII gene located?
X chromosome
31
What are the types of mutations associated with Hemophilia A?
Deletions, stop codons, nonsense, and missense mutations
32
How does Hemophilia A affect male hemizygotes?
They exhibit bleeding symptoms
33
What is the typical symptom status of female carriers of Hemophilia A?
Typically asymptomatic but can pass the gene to offspring
34
What is the inheritance probability for each offspring to be normal in Hemophilia A?
25%
35
What are common sites of anatomic bleeding in Hemophilia A?
Muscles, joints, hematomas
36
Name two serious bleeding complications of Hemophilia A.
Cranial bleeds and gastrointestinal tract bleeding
37
What type of joint damage can severe Hemophilia A cause?
Chronic joint damage and deformities
38
What is the typical onset of bleeding in Hemophilia A after trauma?
Immediate or delayed
39
Which two screening tests are typically normal in Hemophilia A?
Prothrombin Time (PT) and Thrombin Time
40
What screening test is prolonged in Hemophilia A if sensitive to Factor 8 deficiencies?
Partial Thromboplastin Time (PTT)
41
What Factor 8 activity level classifies Hemophilia A as severe?
Less than 1%
42
What Factor 8 activity level is considered moderate Hemophilia A?
1-5%
43
What Factor 8 activity level is classified as mild Hemophilia A?
5-30%
44
What chronic musculoskeletal complication can occur in Hemophilia A?
Joint damage and deformities
45
What are two common chronic psychosocial issues in Hemophilia A patients?
Low self-esteem and depression
46
What historical risks were associated with early Hemophilia A treatments?
HIV and hepatitis transmission
47
How have modern Factor 8 concentrates improved safety?
They eliminate the risk of viral transmission
48
What ratio is used for detecting carriers of Hemophilia A?
Factor 8 activity to Von Willebrand Factor antigen (8:VWF)
49
Why is genetic testing sometimes required for Hemophilia A carrier detection?
Due to lyonization and variability in Factor 8 levels
50
What is the goal of on-demand treatment for Hemophilia A?
Raise Factor 8 to hemostatic levels during bleeding or before surgery
51
How frequently are Factor 8 infusions given in on-demand treatment?
Twice a day
52
What is the goal of prophylactic treatment for Hemophilia A?
Maintain Factor 8 at hemostatic levels consistently
53
Which medication can be used in some Hemophilia A patients alongside antifibrinolytics?
Desmopressin Acetate (DDAVP)
54
What Factor 8 assay result indicates no inhibitor is present?
Greater than 30%
55
What test helps detect inhibitors if Partial Thromboplastin Time (PTT) remains prolonged after mixing?
Mixing studies
56
What test quantifies inhibitor levels in Hemophilia A patients?
Bethesda Assay
57
What is another name for Hemophilia B?
Christmas disease
58
What coagulation factor is deficient in Hemophilia B?
Factor 9
59
What is the inheritance pattern of Hemophilia B?
Sex-linked disorder
60
How do bleeding manifestations of Hemophilia B compare to Hemophilia A?
Similar, causing soft tissue bleeding
61
What clotting test is prolonged in Hemophilia B?
Partial Thromboplastin Time (PTT)
61
What clotting test remains normal in Hemophilia B?
Prothrombin Time (PT)
62
Why might mild cases of Hemophilia B be difficult to detect with PTT testing?
PTT reagents may be insensitive in mild cases
63
What test is recommended for confirming Hemophilia B?
Factor 9 assay
64
What are the primary treatment options for Hemophilia B?
Recombinant or plasma-derived Factor 9 concentrates
65
Why is the initial Factor 9 dose doubled during treatment?
To account for extravascular distribution
66
How often should repeat doses of Factor 9 be administered?
Every 24 hours
67
What is another name for Hemophilia C?
Rosenthal Syndrome
68
What is the inheritance pattern of Hemophilia C?
Autosomal dominant
69
What ethnic group has the highest prevalence of Hemophilia C?
Ashkenazi Jews
70
Does bleeding severity in Hemophilia C always correlate with Factor 11 levels?
No
71
What clotting test is prolonged in Hemophilia C?
Partial Thromboplastin Time (PTT)
72
What clotting test remains normal in Hemophilia C?
Prothrombin Time (PT)
73
What is the primary treatment for Hemophilia C during hemostatic challenges?
Frequent plasma infusions
74
What is the inheritance pattern of most rare congenital single-factor deficiencies?
Autosomal recessive
75
What is a common factor contributing to the occurrence of rare congenital coagulation disorders?
Consanguinity
76
What laboratory tests help diagnose rare coagulation factor deficiencies?
Prothrombin Time (PT), Partial Thromboplastin Time (PTT), and Thrombin Time
77
What type of test distinguishes between quantitative and qualitative factor deficiencies?
Immunoassays
78
What factor-specific deficiency has normal platelet aggregation but prolonged bleeding time?
Factor 5 Deficiency
79
What factor-specific deficiency has moderate to severe hemorrhage, prolonged PT, but normal PTT?
Factor 7 Deficiency
80
What factor-specific deficiency has moderate to sever hemorrhage and both prolonged PT and PTT?
Factor 10 Deficiency
81
What factor-specific deficiency has normal PT, PTT, Thrombin Time but weak clots that dissolve in 5-M urea solution test?
Factor 13 Deficiency

Hematology 2 (8 decks)

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