Inherited Diseases of Coagulation Flashcards
Importance of evaluating bleeding episodes in a patient’s history when a bleeding disorder is suspected
Is the bleeding out of proportion to the challenge/injury?
Importance of a physical examination in a patient’s history when a bleeding disorder is suspected
?
Importance of evaluating family history in a patient’s history when a bleeding disorder is suspected
Sex-linked vs. autosomal
Importance of evaluating drug history in a patient’s history when a bleeding disorder is suspected
?
Importance of evaluating the presence of existing diseases in a patient’s history when a bleeding disorder is suspected
?
Six types of coagulation disorders which may have normal screening tests
- von Willebrand disease (many variations)
- Mild hereditary factor deficiencies
- Factor XIII deficiency
- Dysfibrinogenemia
- Mild qualitative platelet disorders
- Mild acquired inhibitors
Factor VIII deficiency (Hemophilia A)
- How is it inherited?
Sex-linked recessive
Factor VIII deficiency (Hemophilia A)
- Treatment
- Factor VIII concentrate
- DDAVP (vasopressin than stimulates teh production of VIII:C and VIII:vWF)
Factor IX deficiency (Hemophilia B)
- How is it inherited?
Sex-linked recessive
Factor IX deficiency (Hemophilia B)
- Treatment
- Factor IX concentrates
von Willebrand disease
- How is it inherited?
- Autosomal dominant
- Autosomal recessive
von Willebrand disease
- Bleeding episodes
- Mucus membrane bleeding
- Superficial wound bleeding
- Bleeding w/ other hemostatic chanllenges (surgery, childbirth)
- Menorrhagia
von Willebrand disease
- Coagulation test results
- PLT: normal
- BT: prolonged
- PLT aggregation studies: absent w/ ristocetin, normal w/ other agonists
- PT: normal
- APTT: prolonged (usually)
- VIII assay: decreased (usually)
- VIII: vWF Ag decreased
von Willebrand disease
- Treatment
- Humate
- DDAVP
- AMICAR
Hemophilia A vs. von Willebrand disease
- APTT
- Hemophilia A: prolonged
- von Willebrand disease: prolonged (usually)
Hemophilia A vs. von Willebrand disease
- Bleeding time
- Hemophilia A: normal
- von Willebrand disease: prolonged
Hemophilia A vs. von Willebrand disease
- Factor VIII activity
- Hemophilia A: decreased
- von Willebrand disease: decreased (usually)
Hemophilia A vs. von Willebrand disease
- VIII: vWF Ag
- Hemophlia A: ??
- von Willebrand disease: decreased
Hemophilia A vs. von Willebrand disease
- Platelet aggregation
- Hemophilia A: ??
- von Willebrand disease: absent w/ ristocetin, normal w/ other agonists
Hemophilia A vs. von Willebrand disease
- PT
- Hemophilia A:
- von Willebrand disease: normal
Congenital Afibrinogenemia
- Bleeding episodes
Bleeding w/ every hemostatic challenge
Congenital Afibrinogenemia
- Coagulation test results
- PT: increased
- APTT: increased
- TCT: increased
- Fibrinogen: absent
- BT: increased
- PLT aggregation: None (WHY??)
Congenital Afibrinogenemia
- Treatment
Cryoprecipitate
Congenital Hypofibrinogenemia
- Bleeding episodes
Mild to absent bleeding episodes
Congenital Hypofibrinogenemia
- Coagulation test results (PT, APTT, TCT, fibrinogen)
- PT: increased
- APTT: increased
- TCT: increased
- Fibrinogen: low (< 100 mg/dL)
Congenital Hypofibrinogenemia
- Treatment
Cryoprecipitate
Congenital Dysfibrinogenemia
- Bleeding episodes
Asymptomatic to mild bleeding episodes
Congenital Dysfibrinogenemia
- Coagulation test results (PT, APTT, TCT, reptilase)
- PT: variable
- APTT: variable
- TCT: increased
- Reptilase: increased
Congenital Dysfibrinogenemia
- Treatment
Cryoprecipitate
Factor II deficiency
- How is it inherited?
?
Factor II deficiency
- Bleeding episodes
- Postoperative bleeding
- Epistaxis
- Menorrhagia
- Easy bruising
Factor II deficiency
- Coagulation test results (PT, APTT)
- PT: increased
- APTT: increased
Factor II deficiency
- Treatment
PCC, raise to 75%
Factor V deficiency
- How is it inherited?
?
Factor V deficiency
- Bleeding episodes
Mild bleeding episodes
Factor V deficiency
- Coagulation test results (PT, APTT)
- PT: increased
- APTT: increased
Factor V deficiency
- Treatment
FFP, raise level to 75%
Factor VII deficiency
- How is it inherited?
?
Factor VII deficiency
- Bleeding episodes
Moderate to severe hemorrhagic symptoms including spontaneous hemorrhage, hemarthroses, postoperative bleeding
Factor VII deficiency
- Coagulation test results (PT, APTT)
- PT: increased
- APTT: normal
Factor VII deficiency
- Treatment
PPC*, FFP
* PCC not effective by itself, level too low in product
Factor X deficiency
- How is it inherited?
?
Factor X deficiency
- Bleeding episodes
Moderate to severe hemorrhagic symptoms including ecchymoses, CNS bleeding, excessive bleeding after childbirth
Factor X deficiency
- Coagulation test results (PT, APTT)
- PT: increased
- APTT: increased
Factor X deficiency
- Treatment
PCC, raise level to 75%
Factor XI deficiency
- How is it inherited?
?
Factor XI deficiency
- Bleeding episodes
Mild to moderate bleeding episodes
Factor XI deficiency
- Coagulation test results (PT, APTT)
- PT: normal
- APTT: increased
Factor XI deficiency
- Treatment
FFP, raise level to 75%
Factor XII deficiency
- How is it inherited?
?
Factor XII deficiency
- Bleeding episodes
Asymptomatic
Factor XII deficiency
- Coagulation test results (PT, APTT)
- PT: normal
- APTT: increased
Factor XII deficiency
- Treatment
None needed
Factor XIII deficiency
- How is it inherited?
?
Factor XIII deficiency
- Bleeding episodes
Bleeding w/ every hemostatic challenge including umbilical cord bleeding, delayed wound healing, intracranial hemorrhage
Factor XIII deficiency
- Coagulation test results (PT, APTT, urea solubility)
- PT: normal
- APTT: normal
- Abnormal urea solubility test
Factor XIII deficiency
- Treatment
Cryoprecipitate or FFP every 3 weeks
Fletcher Factor deficiency
- How is it inherited?
?
Fletcher Factor deficiency
- Bleeding episodes
Asymptomatic
Fletcher Factor deficiency
- Coagulation test results (PT, APTT)
- PT: normal
- APTT: increased
Fletcher Factor deficiency
- Treatment
None needed
Fitzgerald Factor deficiency
- How is it inherited?
?
Fitzgerald Factor deficiency
- Bleeding episodes
Asymptomatic
Fitzgerald Factor deficiency
- Coagulation test results (PT, APTT)
- PT: normal
- APTT: increased
Fitzgerald Factor deficiency
- Treatment
None needed
Types of bleeds for both Hemophilia A and B in infants
Excessive bleeding from circumcism
Types of bleeds for both Hemophilia A and B in toddlers
- Bleeding/large ecchymoses w/ teething, crawling, learning to walk/fall
- Bleeding into mouth/pharynx → suffocation
- Lifting may cause hematuria
Hemophilia A and B
- Bleeding episodes
Major disability is from crippling hemarthrosis
- Bleeding into muscles/soft tissue
- Circulation is blocked
- Muscle atrophy/wasting
- Gangrene may set in
Major cause of death is intracranial hemorrhage
Hemophilia A and B
- Coagulation test results
- BT, PLT, PT: normal
- APTT: prolonged
- Mixing studies: PNP corrects
- Confirm w/ Factor VIII or IX assay: decreased