Blood Dyscrasias Mrs. Christa Cowen MSN, RN

Types of Bleeding Disorders Hemophilia A (Factor VIII deficiency) Hemophilia B (Factor IX deficiency)- also called “Christmas disease” von Willebrand Disease (vWD)

What is Hemophilia? Hemophilia is an inherited bleeding disorder Absence or ↓ in coagulation factors prevent secondary hemostasis :. ↑risk bleeding

Hemostatic System Blood vessels Platelets Plasma coagulation system Proteolytic system Fibrinolytic system

Inheritance of Hemophilia Hemophilia A and B are X-linked recessive disorders Hemophilia is more commonly expressed in males and carried by females Severity level is consistent between family members

U. S. Incidence of Hemophilia Hemophilia A: Severe: 50-60% More common than B Hemophilia B: Severe: 44%

Basic genetics

Genetics of Hemophilia Deficient /Defective Factor VIII / IX Inherited X-linked traits

Detection of Hemophilia Family history Symptoms Bruising Bleeding with circumcision Muscle, joint, or soft tissue bleeding Hemostatic challenges Surgery Dental work Trauma, accidents Laboratory testing: plt count, PT & aPTT. Only the aPTT is abnormally prolonged (↑) in hemophilia A or B: Further immuno-absorbant assays assist in the dx

Degrees of Severity of Hemophilia Reference value range: Factor VIII (F8) or IX (F9) level = 50-150%

Assessment: Types of Bleeds Joint bleeding - hemarthrosis Muscle hemorrhage Soft tissue - hematomas Life threatening-bleeding Other (easy bleeding/ bruising; with hemarthrosis “target joints” have recurrent bl)

Life-Threatening Bleeding Head / Intracranial *most dangerous* SIGNS/ SYMPTOMS Neck and Throat Abdominal / GI / GU Iliopsoas Muscle

Other Bleeding Episodes Mouth bleeding 2⁰ to: Epistaxis Scrapes and/or minor cuts Menorrhagia

Complications of Bleeding Flexion contractures Joint arthritis / arthropathy Chronic pain Muscle atrophy Compartment syndrome Neurologic impairment

Treatment of Hemophilia Replacement of missing clotting protein On demand (on-the-spot) Prophylaxis Factor concentrate/ recombinant factor DDAVP / Stimate Antifibrinolytic Agents Amicar Supportive measures: Icing Immobilization/ compression Rest, elevate

Nsg: Infusions of Factor Concentrates Verify product with physician order Dose may be +/- 10% ordered Reconstitute factor per package insert Do not waste factor even if the dose is not exactly what is ordered: Infusion rate per package insert or pharmacy instructions Document lot number, expiration date, time of infusion, and exact dose given in units

Prophylaxis Scheduled infusions of factor concentrates to prevent most bleeding Frequency: 2 to 3 times weekly Use of IVAD necessary

DDAVP (Desmopressin acetate) Synthetic analogue of vasopressin (ADH) that lacks pressor activity Useful in Mild hemophilia A- ↑s circulating Factor VIII (F8) (& vWF) levels 2-4X above baseline, via release from endothelial storage sites Therapeutic Effect->generates substantial but transient ↑ Factor VIII (F8) (& vWF) levels NOT effective in Severe Factor VIII (F8) deficiency Persistent antidiuretic activity can lead to water retention and serious degrees of hyponatremia

DDAVP (Desmopressin acetate) Administration Intravenous: 0.3 mcg/kg (maximum 20 mcg) diluted in 50 mL of NSS, infuse over 20 to 30 minutes; the same dose is given with subcutaneous therapy; no single injection to exceed 1.5 mL Subcutaneously: same as above Nasally (Stimate) Given every 12–24 hours in limited numbers due to its tachyphylactic properties Persistent antidiuretic activity can lead to water retention and serious degrees of hyponatremia

Stimate® (desmopressin acetate) Nasal Spray, 1.5 mg/mL Usual dose is one puff (150 mcg) in patients weighing <50 kg and two puffs in patients weighing >50 kg Dosing Every 24-48 hours prn < 50 kg body weight - 1 spray (150 mcg) > 50 kg body weight - 2 sprays (300 mcg) Persistent antidiuretic activity can lead to water retention and serious degrees of hyponatremia

Amicar (epsilon amino caproic acid) Antifibrinolytic- inhibits fibrinolysis->stabilizes clot Uses- Mucocutaneous bleeding & helpful after oral surgery Dosing: 50 - 100 mg/kg every 6 hours Side effects increased risk for thrombosis(58%) WHY IS RISK ↑’d?

Complications of Treatment with factor concentrate Inhibitors/Antibody development Hepatitis A Hepatitis B Hepatitis C HIV

Inhibitors/ Antibody Development Definition IgG antibody to infused Factor VIII (F8) or IX (F9) concentrates, which occurs after exposure to Factor VIII (F8) or IX (F9) proteins. (Prevalence 20-30% of patients with severe hemophilia A 1-4% of patients with severe hemophilia B) National Hemophilia Foundation. (2012). Inhibitor challenges revisited. Available at: http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=229&contentid=418&rptname=inhibitors

Nursing Considerations Factor replacement to be given on time Laboratory monitoring ↑ metabolic states will _ factor requirements Factor coverage for invasive procedures___ Document - infusions, response to treatment Avoid NSAIDS/ plt aggregation inhibitors Utilize Hemophilia Center staff for questions / problems

Post-operative Nursing Management (pre-op: monitor administration of factor replacement) Assess Monitor Cold or heat? Pain management (pharm/non-pharm): Avoid

Nursing Interventions Teaching Epistaxis Apply pressure (to minor wounds if minor factor deficiency) Hemarthrosis Other

(1)-Treatment Centers (2)-Hemophilia Foundations (1)-Hemophilia Treatment Centers: Hemophilia Treatment Centers are all across the United States. Below and on the right are three centers in North Carolina with contact information: East Carolina University East Carolina University Brody School of Medicine PCMH 288 West Greenville, NC 27858-4354> HTC ID: 256 Region: Region IV - North Phone: (252) 744-4676 Fax: (252) 744-8199 University of North Carolina at Chapel Hill School of Medicine Medical School Wing E, Room 128 CB # 7016 Chapel Hill, NC 27599-7016> HTC ID: 262 Region: Region IV - North Phone: (919) 966-4736 Fax: (919) 962-8224 Wake Forest University School of Medicine Wake Forest University Health Sciences Department of Pediatrics Medical Center Boulevard Winston-Salem, NC 27157-1081> HTC ID: 251 Region: Region IV - North Phone: (336) 716-4324 Fax: (336) 716-3010 (2)-Hemophilia Foundations: Hemophilia Foundations are available in almost every state (one in North Carolina) to help those dealing with hemophilia: Hemophilia of North Carolina P. O. Box 70 Cary, NC 27512-0070 Phone: 1 919 319-0014 Toll-free phone: 1 800 990-5557 Fax: 1 919 319-0016 E-mail: info@hemophilia-nc.org mail to: rbrummett@triad.rr.com Website: www.hemophilia-nc.org Matt Barnes, President info@hemophilia-nc.org Sue Cowell, Executive Director

What is von Willebrand Disease (vWD)? Most common inherited bleeding disorder Inherited: parent to child genetically 1-2% of population affected; affects M & F equally ↓plt adhesion to injured vascular endothelium ↓Factor VIII (F8) [ ] --> ↓ clot stability ↑bleeding time, slightly ↑aPTT abnormal aggregation tests incl; ristocetin cofactor

Detection of vWD Family history Symptoms Hemostatic challenges Mucosal bleeding* (gums, primarily) Recurrent epistaxis/ easy bruising Heavy menorrhagia/ prolonged bleeding from scrapes/ cuts Significant bleeding post-dental extraction/Heavy bleeding after major surgery or injury Dx of anemia Hemostatic challenges Major Surgery Dental work Post Partum Type 3 vWD (most severe hemostatic challenges) Laboratory testing: TBD

Role of vWF & Hemostasis von Willebrand factor (vWF)- glue-like protein; plays critical role in both the primary & secondary stages of hemostasis: During primary hemostasis- vWF helps build the clot by binding platelets together at injury site During secondary hemostasis- vWF helps stabilize the clot by binding & circulating with factor VIII and protecting it from clearance

vWF & primary hemostasis

The platelet and its interactions

vWF & secondary hemostasis During secondary hemostasis: vWF binds with Factor VIII (F8) vWF then circulates with bound Factor VIII (F8), protecting it from clearance Action promotes clot stabilization *FvW* depicted

vWD Diagnostic tests Plt count- normal (WHY?) PT- normal aPTT- mild ↑ ↓Ristocetin cofactor- measures vWF function ↓vWF antigen- measures plasma vWF level ↓Factor VIII (F8)- clotting activity (vWF multimers (for type 2)- loss of HMW forms)

Diagnostic findings

Treatment of vWD Desmopressin (DDAVP)- releases vWF from endothelium, increases Factor VIII :. helps w clot formation avoid DDAVP in CAD ->causes plt aggregation:._____ Amicar- Antifibrinolytic (inhibits fibrinolysis-> stabilizes clot) Cryoprecipitate (replaces vWF, Factor VIII (F8) (sm risk viral infections, despite screening- monitor) Estrogen-progesterone WHY?

Treatment/ nsg care of vWD Replace Factor VIII (F8) and vWF with commercial concentrates as necessary/serum level dependent (bleeding crisis/ surgery): Humate -P® Alphanate® Ice/ direct pressure w sterile gauze Topical hemostatic agents Biting on teabags (Tannin hemostatic)

Nursing Care/ Treatment of vWD Avoid NSAIDS & meds that interfere________ Avoid full contact sports Avoid unnecessary surgeries Prevent bleeding episodes Teach s/s bleeding & control of bleeding Support client & family Encourage people to live as normal of a life as is practical