- Shuffle
Toggle OnToggle Off
- Alphabetize
Toggle OnToggle Off
- Front First
Toggle OnToggle Off
- Both Sides
Toggle OnToggle Off
Front
How to study your flashcards.
Right/Left arrow keys: Navigate between flashcards.right arrow keyleft arrow key
Up/Down arrow keys: Flip the card between the front and back.down keyup key
H key: Show hint (3rd side).h key
PLAY BUTTON
PLAY BUTTON
40 Cards in this Set
- Front
- Back
|
Synonyms for Hemophilia A
and Percentage |
Classical Hemophilia
Factor VIII Deficiency (85%) |
|
Synonyms for Hemophilia B
and Percentage |
Factor IX Deficiency
Christmas Disease (10%) |
|
Why do you have bleeding with hemophilia?
|
Because you do not get amplification of the coagulation cascade in the intrinsic pathway
|
|
Which lab value is prolonged in hemophilia?
|
PTT b/c instrinsic pathway
|
|
What intron inversion is found in a large population of patients with Hemophilia A?
|
Inversion 22 (genetically test for this first
|
|
What would you genetically term the daughter of a male hemophiliac?
|
an obligate carrier
|
|
Is it possible for a female to have hemophilia?
|
- lionization
- parents are male with disease and carrier female |
|
How much hemophilia is due to spontaneous mutations?
|
30%
|
|
What are the clinical manifestations of Hemophilia?
|
- Joint bleeds --> Target joints (MOST COMMON is large joints)
- Deep muscle bleeds - Hematomas - Post-surgery/Post-trauma - Dental extraction - Intracranial hemorrhage |
|
Can female hemophilia carriers have symptoms?
|
Yes. Because they have decreased Factor VIII.
menorrhagia postoperative bleeding postpartum bleeding epistaxis oral, dental bleeding |
|
target joint
|
repeated bleeding into the same joint
|
|
Can hemophilia skip generations?
|
Yes. If 2nd generation is a carrier
|
|
What drugs should hemophiliacs avoid?
|
Aspirin
NSAIDs |
|
Severe Clinical Manifestations
Hemophilia |
<1% Clotting Activity
Early childhood bleeding Spontaneous bleeds |
|
Moderate Clinical Manifestations
Hemophilia |
1-5% Clotting Activity
After minor trauma or surgery, pt bleeds May be spontaneous bleeding |
|
Mild Clinical Manifestations
Hemophilia |
5-20% Clotting Activity
Bleeding after trauma only |
|
HEMOPHILIC ARTHROPATHY
|
- Recurrent bleeds leading to persistent inflammation, soft tissue, bone destruction
- Recurrent pain, chronic arthritis - Decreased range of motion and mobility - Eventual physical impairment, long-term disability, psychosocial consequences |
|
Synovitis
|
- blood damages the synovium
- if synovitis persists then you get muscle wasting, morning stiffness, chronic pain, limited movement |
|
MRI in Hemophilic Arthropathy
|
- Knee effusion
- Synovial hyperplasia - Ankle effusion |
|
INTRAMUSCULAR/SOFT TISSUE BLEEDING
in Hemophilia |
Less common than hemarthroses, but may have more severe consequences. Areas of greatest concern include:
* Palm of hand, wrist * Calf * Thich or Groin - Face, neck, mouth, eye - Hip of shoulder - Laceration requiring sutures - Hematuria, GI Tract Bleeding * Potential Circumferential Compression |
|
Intracranial hemorrhage
in Hemophilia |
- MOST FEARED COMPLICATION
|
|
PFA100
|
Platelet Function Analysis 100
- take cold, anticoagulated blood -pull it through a membrane by capillary action and see how long it takes for a clot to form - THINK OF IT AS AN EX-VIVO BLEEDING TIME |
|
What will prolong your PT and not PTT?
|
Factor VII deficiency
|
|
Treatment of Hemophilia
|
- Hemophilia Treatment Centers
- Plasma derived or Recombinant factors to replace the missing factor - Clotting factor concentrates are given to prevent bleeding and to limit existing hemorrhage - Synovectomies, joint replacements/fusions - PREVENTION, PREVENTION, PREVENTION |
|
How do you prevent bleeding in Hemophilia?
|
Administer Recombinant Factors 2-3 times/week
|
|
How do you obtain plasma-derived concentrates (that will be used for Hemophilia Treatment)?
|
-large starting pool of carefully screened donor plasma
-Affinity chromatography using monoclonal antibodies -Viral inactivation procedures (pasteurization, solvent-detergent treatment, ultrafiltration) are effective against HIV and hepatitis viruses. |
|
How do you obtain Recombinant human factor VIII and IX (that will be used for Hemophilia Treatment)?
|
- purified from the cell culture of transfected mammalian cell lines
- require no further viral attenuation |
|
Complications of Hemophilia Treatment
|
- Development of inhibitors (alloantibodies) to Factor VIII and less commonly, Factor IX (about 10-20% develop this)
- Infectious - Hep B (70-90% prior to vaccine) - Hep C (>90% in pts treated prior to 1985) - HIV (By 1984, >90% of severe Hemophilia A) - CMV, Parvovirus B19 |
|
At what age to begin hemophilia prophylaxis?
|
1-2 years old begin with IV administration
|
|
Acquired Hemophilia
|
- development of neutralizing and clearing anti-factor VIII (FVIII) antibodies in individuals without a preexistent congenital FVIII deficiency.
- uncommon - incidence of 0.2 to one cases per million population per year - Older adults - Postpartum - 50% with underlying autoimmune DO (lupus, rheumatoid arthritis), malignancy - 50% idiopathic |
|
What is the most common inherited bleeding disease?
|
Von Willebrand's Disease
|
|
Von Willebran's Disease
|
- Heterogeneous group of inherited or acquired bleeding disorders
- Bleeding due to reduced level or abnormal function of VWF - Most types have autosomal dominant inheritance |
|
What is the life of Factor VIII if not bound to vWF?
|
8 hours
|
|
Clinical Bleeding Symptoms Associated with Type 1 Von Willebrand Disease
|
- Gingival Bleeding
- Hemorrhage after dental extraction - Epistaxis - Post-operative bleeding - GI bleeding - Joint bleeding (will look like platelets and hemophilia bleeding) - Menorrhagia - Hematuria - Post-partum Bleeding |
|
Do pts with Von Willebrand's Disease have problems with primary or secondary bleeding?
|
BOTH
|
|
What are the laboratory findings in von willedbrans disease?
|
PTT - prolonged or normal
Factor VIII - may be moderately reduced VWF - low |
|
DDAVP
|
(1-deamino-8-D-arginine vasopressin = synthetic analog of ADH L-vasopressin)
Releases stored Factor VIII and VWF from endothelial cells - this causes a quick response, but cannot be used repeatedly b/c you do not have more stores |
|
Humate P
|
- Intermediate purity factor VIII concentrate which contains both VWF and factor VIII
FOR PTS WITH SEVERE VWD |
|
Treatment of VWD
|
- DDAVP
or - Humate P |
|
AMICAR
|
- helps stabilize the fibrin clot
|
