Inherited bleeding disorders

Question 1

What may an inherited bleeding disorder affect?

Answer 1

1. COAGULATION CASCADE (too little clot = hemophilia, too much clot = thrombophilia).
2. **PLATELETS* number or function
3. COMBINED DEFICIENCY

Question 1

What is an inherited bleeding disorder?

Answer 1

An acquired defect which affects the coagulation of the blood.

Question 2

Name 4 disorders that REDUCE COAGULATION FACTORS.

Answer 2

• Factor VIII (8) deficiency = Hemophilia/ Hemophilia A.
• Factor IX (9) deficiency = Christmas disease/ Hemophilia B.
• Von Willebrand’s disease = Reduced factor VIII level + reduced platelet aggregation.
• Factor XI (11) deficiency = common in Ashkenazy Jews.

Question 3

What is deficient in hemophilia/ hemophilia A?

Answer 3

Factor VIII

Question 4

What is deficient in hemophilia B/ Christmas disease?

Answer 4

Factor IX

Question 5

What factor is deficient in von Willebrand’s disease?

Answer 5

Factor VIII + reduced platelet aggregation

Question 6

What factor is commonly deficient is Ashkenazy Jews?

Answer 6

Factor XI.

Question 7

How is Hemophilia A and B inherited? Who is most affected?

Answer 7

• SEX LINKED (x chromosome) RECESSIVE.
• females are CARRIERS, males are AFFECTED.

Question 8

What determines the SEVERITY of hemophilia A and B?

Answer 8

The AMOUNT of factor produced (the less the more severe).

Question 9

What is the NORMAL amount of clotting factor produced? What about carriers, mild, moderate and severe?

Answer 9

• Normal: 1iu/mL
• Carrier: more than 50% activity, <0.5iu/mL.
• Mild: 10-40% activity , 0.1-0.4iu/mL
• Moderate: 2-9% activity, 0.02-0.09iu/mL
• Severe: less than 2% activity, <0.02iu/mL.

Question 10

What is the management of moderate and severe hemophilia A?

Answer 10

• RECOMBINANT FACTOR VIII.

Question 11

What is the management of carrier and mild hemophilia A?

Answer 11

• DDAVP/Desmopressin
• Tranexamic acid if very mild.

Question 12

What is the function of DDAVP?

Answer 12

• Desmopressin
• releases factor VIII bound to endothelial cells

Question 13

What is the function of tranexamic acid?

Answer 13

INHIBITS FIBRONOLYSIS (keeps any clot that is formed for longer).

Question 14

What is the managment of Hemophilia B? Why?

Answer 14

• Carrier, mild, moderate severe ALL REQUIRE RECOMBINANT FACTOR IX.
• NO ALTERNATIVE TREATMENT AVAILABLE.
  (DDAVP not effective as factor IX not bound to endothelial cells. Tranexamic acid not enough by itself.)

Question 15

What are coagulation factor inhibitors?

Answer 15

ANTIBODIES which develop to RECOMBINANT FACTOR VIII AND IX.

Question 16

How can coagulation factor inhibitors be minimized?

Answer 16

plan to give AS FEW EPISODES OF FACTOR CONCETRATE AS POSSIBLE

Question 17

How is von Willebrand’s Disease inherited? Who is most affected?

Answer 17

AUTOSOMAL DOMINANT - BOTH SEXES EQUALLY AFFECTED.

Question 18

What does von Willebrand disease cause? (ex. what deficiency).

Answer 18

• Reduced Factor VIII.
• Deficiency of von Willebrand factor/ defective vW factor on platelets

–> POOR CLOT ACTIVATION BY PLATELETS.

Question 19

What are the 3 types of vW disease? Which is most common?

Answer 19

o Type 1: Dominant Mild
o Type 2: Dominant Mild.
o Type 3: Recessive Severe.

• Type 1 and 2 most common.

Question 20

What is the management of moderate and severe vW disease?

Answer 20

DDAVP enough for most.

Question 21

What is the management of mild/ carrier vW disease?

Answer 21

Tranexamic acid may be enough.

Question 22

What determines the bleeding risk in a patient with Hemophilia (A/B) and vW disease?

Answer 22

BASELINE FACTOR ACTIVITY, the HIGHER the factor the LOWER the risk.

Question 23

Which local anesthetics are safe in hemophilia patients? Which are not?

Answer 23

SAFE:
- intrapapillary.
- intraligamentary.
- buccal infiltration.

UNSAFE:
- lingual infiltration.
- IANB
- Posterior superior nerve block.

Question 24

How long post-extraction must a patient with carrier/mild hemophilia be observed?

Answer 24

2-3 hours after surgery.

Question 25

How long post-extraction must a patient with moderate/severe hemophilia be observed?

Answer 25

Must be observed OVERNIGHT.

Question 26

A patient with mild/carrier hemophilia requires restorative dentistry. Where will this be undertaken?

Answer 26

• Prosthodontics/ procedures without bleeding or LA –> GDP.
• LA: buccal, intraligamentary, intrapapillary –> GDP
• LA: IANB, lingual infiltration, posterior superior nerve block –> HOSPITAL

Question 27

A patient with mild/carrier hemophilia requires an extraction/surgery. Where will this be undertaken?

Answer 27

HOSPITAL.

• extractions, minoral oral surgery, biopsies, periodontal surgery.

Question 28

Name 4 procedures for which special care is requiered in Hemophilia patients.

Answer 28

• biopsies.
• extractions.
• minor oral surgery.
• periodontal surgery.

Question 29

A dentate patient with moderate/ severe hemophilia requires treatment. Where will this be undertaken?

Answer 29

Treatment in hospital or by arrangment with hemophilia unit.

Question 30

A edentulous patient with moderate/ severe hemophilia requires treatment. Where will this be undertaken?

Answer 30

Can be carried out in GDP

Question 31

Which coagulation factor deficiency condition is most common (rank them).

Answer 31

1. vW.
2. Hemophilia A
3. Hemophilia B/ Factor XI.

Question 32

What is thrombophilia?

Answer 32

INCREASED risk of clots developing.

Question 33

How does on develop thrombophilia? (environmental? genetic?)

Answer 33

• GENETIC tendency which is ENHANCED by local factors/ acquired problem:

ex. immobility from long flight, surgery, smoking, pregnancy.

Question 34

What is a great risk with thrombophilia?

Answer 34

If clot EMBOLIZES it can lead to BLOCKAGE OF A MAJOR VESSEL in the heart and/or lungs causing PULMONARY THROMBOEMBOLISM.

Question 35

Is thrombophilia inherited or acquired? Give examples.

Answer 35

• Inherited Hypercoagulation: protein S deficiency, protein C deficiency, factor V leiden, antithrombin III deficiency.
• Acquired Hypercoagulation: oral contraceptives, pregnancy, surgery, trauma, cancer, immobilization, antiphospholipid syndrome.

Question 36

Name 3 platelet disorders that INCREASE BLEEDING.

Answer 36

1. Thrombocytopenia (reduced number of platelets).
2. Qualitative diseases (normal platelet count but abnormal function)
3. Thrombocythemia (increased number of abnormal platelets).

Question 37

What are 3 causes of thrombocytopenia?

Answer 37

1. Idiopathic.
2. Drug related (penicillin based, alcohol, heparin).
3. Secondary to lymphoproliferative disorder (leukaemia or myelodysplasia).

Question 38

What is an issue in patients with lymphoproliferative disorders?

Answer 38

• Myelodysplasia, Leukemia.

THROMBOCYTOPENIA.

Question 39

Are Qualitative Disorders Inherited or Acquired? Give examples.

Answer 39

BOTH.

Inherited: bernard soulier syndrome, hermansky pudlak, glanzmann’s thromboasthenia. RARE.

Acquired: Cirrhosis, alcohol, drugs, cardiopulmonary bypass.

Question 40

What is the usual cause of thrombocythemia?

Answer 40

Preneoplastic condition.

Question 41

What drug are thrombocythemia patients often on?

Answer 41

aspirin to prevent clot formation.

Question 42

What platelet count in necessary to treat a patient with a platelet disorder in primary care?

Answer 42

GREATER than 100 x 10^9/ L

Question 43

What platelet count in necessary to treat a patient with a platelet disorder in hospital?

Answer 43

GREATER than 50 x 10^9/L

Question 44

What procedures can a patient with a 100 x10^9/L platelet disorder undertake?

Answer 44

Hygiene therapy, prosthodontics, endodontics, orthodontics, restorative dentistry are FINE.

Simple extractions are FINE, ask advice form a SPECIALIST FOR SURGICAL.

Question 45

When is special care required for a patient with thrombocythemia?

Answer 45

platelet count above 500x10^9/L.

for extractions, surgery, biopsies, periodontal surgery.