8.2 Hemophilia and Immune Thrombocytopenic Purpura (ITP) Flashcards
Genetics
- Sex Linked Inheritance conditions (transmission located on sex chromosomes either x or y)
- Can be passed down from a parent of a different sex
- Y linked genes are RARE, X linked gene anomalies are more common
- Y is father to a son (because guys only have XY)
- Most are X linked because X can come from either father or son. Fathers give x to daughter and Y to son. Mom gives X to both.
- Male to Male is Y linked
Hemophilia
- X Linked Disorder
- Bleeding disorder that results from congenital deficiency or dysfunction of coagulation factors. (LACK OF CLOTTING FACTORS)
- Girls who only receive one X that is abnormal, they will be a carrier
- If boys get an affected X gene (from the mom) they will have the disease.
- Girls are typically carriers boys and typically affected.
- SOMETIMES MOM IS NOT A CARRIER (RARE) - Can occur when gene mutates during egg production or early in development of embryo
WHAT ARE THE ODDS?
- Each child has a the same odds of obtaining hemophilia
Hemophilia Types
Hemophilia A
- Deficiency in Factor 8
Hemophilia B (Christmas Disease)
- Deficiency in Factor 9
Signs and Symptoms
- Hallmark is hemorrhage from minor trauma
- After boys are born they go through circumcision. When this is preformed, we will notice excessive hemorrhage from the surgical procedure.
- Loss of teeth or small falls can also show hemorrhages
Hemophilia Bleeds
- Subcutaneous and Intramuscular Hemorrhages
Hallmark Sign - Hemarthrosis (bleeding into joint cavities) - IMPORTANT TO EDUCATE PARENTS ABOUT RICE THERAPY (REST, ICE, COMPRESSION, ELEVATION)
Spontaneous Hematuria (bleeding in urine)
GI Bleed, Intracranial Hemorrhage, Anemia
Petechiae (uncommon with hemophilia because small hemorrhage repairs are usually attributed to platelets not clotting factors)
Hemophilia Management
- Replace the clotting factor A (8) B (9)
- We can give synthetic versions of the factors
DDVAP - Synthetic vasopressin that increases factor 8
Corticosteroids for hematuria, acute hemarthrosis, and chronic synovitis
Hemophilia Management
- Treatment needs to begin immediately. Parents can learn to do venipuncture at home for children 2-3 years or older
- Children 8-12 can administer their own clotting factors (lifelong therapy)
- NEVER MAKE A HEMOPHILIA PATIENT WAIT WHEN THEY COME INTO ER FOR BLEEDING. THEY NEED TREATMENT IMMIEDATELY
Hemophilia Considerations
- DO NOT GIVE IM INJETION UNLESS WE HAVE TO (If IM is needed we need to pre-treat with clotting factors)
- Avoid Invasive procedures without first pre-treating with clotting factors
- Avoid arterial punctures,
- Avoid finger or heel sticks because they bleed longer than venipunctures.
Nursing Considerations Hemophilia
- RICE Therapy (Rest, Ice, Compression, Elevation)
ACUTE BLEED
- Apply firm pressure
- Administer appropriate clotting factor
How to Decrease Risk?
- What sports are appropriate given their limitations?
- Children should receive medical alert bracelets.
- Genetic counseling
- Foster independence (this is a lifelong condition so they need to take ownership of their condition)
- NO CURE
Von Willebrand Disease
- Bleeding disorder where you lack Von Willebrand Factor (clotting factor)
- Causes platelets to stick to damaged endothelium and because these platelets carry factor 8, clots are ineffective.
Manifestations
- Mucous Membrane Bleeding (frequent nose bleeds) - MOST COMMON
- Gingival bleeding, easy bruising, menorrhagia.
- THEY DO NOT HAVE EXCSESIVE BLEEDING AT CHILDBIRTH BECAUSE THEY HAVE EXTRA FACTOR 8 PRODUCTION IN PREGNANCY
Treatment
- DDAVP and missing factors
Epitaxis
- Nose bleeds
- DO NOT TILT HEAD UP AND BACK
- Sit up and lean forward to prevent blood running down throat and clotting.
- Apply continuous pressure to the nose for 10 minutes
- Insert cotton or tissue and apply ice for persistent bleeds
- Keep child calm and quiet
Immune Thrombocytopenia (ITP)
- Acquired hemorrhagic disorder characterized by thrombocytopenia, easy bruising (petechiae), normal bone marrow
- No known cause (autoimmune)
- INCREASED IMMATURE MEGAKARYOCYTES
- Activity restrictions if platelets drop below 50,000
- Injuries should be taken seriously due to bleeding
- Autoimmune (formation of antibodies against platelets)
- Platelets being destroyed by the body
- Typically develops 1-4 weeks after a viral infection (MMR, Varicella, Human Parvovirus)
Can be acute or chronic (lasts longer than a year)
ITP Labs
- Platelets can drop extremely low (below 20,000)
- No specific tests (need to just rule out other reasons of thrombocytopenia.
Treatment ITP
- Supportive treatment (NO CURE)
Prednisone or IVIG to lessen immune response
Anti-D Antibody
- Causes transient hemolytic anemia which eliminates RBCs that are coated with antibodies which may reverse the autoimmune response
- Platelet replacement can be done but the immune system will just attack them
Treatment ITP
- Supportive treatment (NO CURE)
Prednisone or IVIG to lessen immune response
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Anti-D Antibody
- Causes transient hemolytic anemia which eliminates RBCs that are coated with antibodies which may reverse the autoimmune response
- Platelet replacement can be done but the immune system will just attack them
ITP Considerations
- Splenectomy can be done if other treatments don’t work, but treatment is usually not done before the age of 5 due to younger children being high risk for infection
- If splenectomy is done, child must receive penicillin for 3 years prophylactically after to prevent further infections
- Vaccinations are important (pneumococcal, meningococcal, HIB) because ITP occurs after viral infections.
- If we remove spleen, we can help keep more platelets circulating because the spleen is responsible for removing damaged platelets.
