Basics of Bleeding Disorders
Hemophilia & von Willebrand Disease
INTRO
Hemophilia Outreach Center
INTRO
TODAY'S SCHEDULE
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Describe what the Hemophilia Outreach Center offers to bleeding disorders & medical community.
Describe normal hemostasis & its 3 major steps
Describe various types of hemophilia, prevalence, genetics, diagnosis, types of bleeds & treatments
Describe von Willebrand Disease, prevalence, genetics, diagnosis, bleeding manifestation & treatment
ABOUT
Hemophilia Outreach Center
- Federally funded Hemophilia Treatment Center
- Comprehensive Treatment under one roof
HISTORY
- Founded over 40 years ago by 2 pediatric nurses
- Services were initially rendered out of their home, infusing many patients at Peggy's dining room table.
- Now located: 2060 Bellevue Street in Green Bay, WI
TEAM
- Physicians
- Nurses
- Clinical Staff
- Behavioral Health Specialist
- Dental Hygienist
- Financial Coordinator
- Genetic Counselor
- Dietitian
- Pharmacy
- Physical Therapist
- Program Coordinator
HEMOPHILIA
Factor VIII & Factor IX deficiencies
- A genetic disorder that is characterized by a deficiency or absence of one of the clotting proteins in the plasma
HEMOPHILIA
- The result is delayed clotting
- Patients do not bleed faster, rather they bleed longer.
CLOTTING SEQUENCE
- Hemostatic System
- Blood Vessels
- Platelets
- Plasma Coagulation System
- Proteolytic or Fibrinolytic System
- How Bleeding Stops
- Vasoconstriction
- Platelet plug formation
- Clotting Cascade activated to form fibrin clot
TYPES OF HEMOPHILIA
HEMOPHILIA "A" & HEMOPHILIA "B"
- Hemophilia A
- Affects about 1:5000 males
- Carriers- females may be symptomatic
- Hemophilia B
- Also referred to as Christmas Disease
- Affects about 1:20,000 males
- Carrier- females may be symptomatic
DEGREES OF SEVERITY
Normal, Mild, Moderate, Severe
- Mild Hemophilia
- expect few problems with bleeding except during surgery and after severe trauma, bleeds uncommon
- Moderate Hemophilia
- bleeding after incidental trauma, ~4-6 bleeds/year
- Severe Hemophilia
- factor VIII or IX level-frequent bleeding episodes and spontaneous bleeding, ~1 bleed per week
WOMEN'S CARE
CARRIER OR MILD HEMOPHILIA?
Mild Hemophilia
- expect few problems with bleeding except during surgery and after severe trauma, bleeds uncommon
MENSTRUAL CYCLE
- Symptomatic Carriers
- There can be several genetic reasons for why these carriers are symptomatic.
- Treatment options
LABOR & DELIVERY
- HOC RNs will provide a full plan of care for the mother and the baby during and after delivery.
- Epidurals
- Third trimester factor level check
- Vaginal delivers are considered to be safe
- Post delivery hemorrhaging
- Instruments to avoid during delivery
- Forceps
- Vacuum suction
- Scalp monitoring
- Test baby's factor levels
- Cord blood (Males)
- Procedures to avoid prior to knowing baby's factor levels
- Circumcision
- Heel stick/IM injections
INHERITANCE
- Hemophilia A & B are X-linked recessive disorders
- Hemophilia is typically expressed in males and carried by females
- Severity level is consistent between family members
INHERITANCE OF HEMOPHILIA
- 30% of cases of severe hemophilia result from spontaneous mutations/no family history
- When diagnosis of a new patient with mild/moderate/severe disease, test all other at-risk family members regardless of prior history
TYPES OF BLEEDS
- #1 Joint Bleeds (hemarthrosis), “Target Joint” term used to indicate 3-4 bleeds to same joint in 6 month period, most common target joints are knees, ankles and elbows
- Muscle hemorrhage
- Soft Tissue
- Mucous Membranes (Nosebleeds/Mouth Bleeds)
- Life Threatening Bleeds-CNS (Head & Spinal Cord)
- Gastrointestinal
- Urinary tracked bleed
- Limb Threatening bleeds
TYPES OF BLEEDS
ACTIVE JOINT BLEEDS
JOINT BLEEDS
LOOK INSIDE THE KNEE
- With bleeds the space around the joint fills with blood
- This causes the synovium to become irritated and bleed again
LOOK INSIDE
- The body makes enzymes remove blood from the joint
- These enzymes damage the cartilage
- After many bleeds, the cartilage wears away
Major Hemorrhage
MAJOR HEMORRHAGE
- This is less common but requires immediate assessment and intervention.
- #1 cause of death is intracranial hemorrhage
- Intracranial, spinal cord, airway and ocular.
- Bleeding into an enclosed space – compartment syndrome
- Compression of vital organs
- Potential for life or limb threatening
INHIBITORS/ ACQUIRED HEMOPHILIA
- People with hemophilia can develop antibodies to factor medications.
- Time consuming/ Costly
- Factor products are not interchangeable
- People without hemophilia can develop acquired hemophilia
INHIBITORS
HISTORY OF TREATING BLEEDS
TREATING BLEEDS
-Dr. Judith Graham Pool- factor-rich plasma (cryoprecipitate)
Commercial plasma derived factor concentrates
Heat treated factor concentrates
(Clotting factor concentrates : Freeze dried powder. ***)
Gene therapy clinic trials (Hemophilia A & B)
"PROPHY"
- Preventative treatment is the best treatment
- Prophy is the standard of care for the hemophilia population
- Prophy schedule
- Extended half-life v. standard half-life
- Primary v. secondary
- Insurance approval/denial
PROPHYLAXIS
Therapy & Treatment
- Early and appropriate treatment of each bleeding episode is imperative
- IV Factor Replacement
- DDAVP IV/Stimate Nasal Spray for Hemophilia A only
- RICE-Rest, Ice, Compression and Elevation.
- Amicar for mucosal bleeding. Avoid for GI/GU bleeds.
Replacement of the absent or deficient
clotting protein is imperative.
THERAPY & TREATMENT
FACTOR & VON WILLEBRAND PRODUCT
- Factor VIII {Recombinant}
- ADVATE*
- Helixate
- Kogenate
- KOVALTRY
- Novoeight
- NUWIQ
- RECOMBINATE
- XYNTHA
PRODUCTS
- Von Willebrand Factor {Recombinant}
- VONVENDI*
- Desmopressin Acetate
- Stimate
- Factor IX {Human}
- AlphaNine SD
- Mononine
- Factor IX {Recombinant}
- BeneFix*
- IXINITY
- RIXUBIS
- Factor XI {Recombinant}, Long-acting
- ALPROLIX*
- IDELVION
- Factor VIII {Recombinant}, Long-acting
- ADYNOVATE
- AFSTYLA
- ELOCTATE*
- Factor VIII {human}
- HEMOFIL M
- KOATE-DVI
- MONOCLATE-P
- Factor VIII/ von Willebrand Factor Complex {human}
- ALPHANATE
- HUMATE-P*
- WILATE*
Factor & von Willebrand
Products (Continued)
MORE PRODUCTS
- Anti-Inhibitor Coagulation Complex
- FEIBA
- Coagulation Factor VIIa {Recombinant}
- NovoSeven RT*
- SevenFact
- Antihemophilic Factor {Recombinant} Porcine Sequence
- OBIZUR*
- Factor IX Complex
- BEBULINE
- PROFILNINE
- Prothrombin Complex Concentrate
- KCENTRA
- Coagulation Factor X {Human}
- COAGADEX
- Factor XIII Concentrate {Human}
- Corifact
- Coagulation Factor XIII A-Subunit {Recombinant}
- Tretten
- Fibrinogen Concentrate {Human}
- RiaSTAP
- Non-Factor Replacement
- Hemlibra*
FUNDAMENTAL PRINCIPLES OF HEMOPHILIA TREATMENT
PRINCIPLES OF TREATMENT
- Treat bleeds early to prevent acute and chronic complications.
- Believe the child/patient who thinks he/she is bleeding.
- Recognize that various somatic complains may be due to hemorrhage.
- Communicate with the local hemophilia treatment center
SCENARIOS
- Patient presents with
- Pain in left ankle
- Played soccer yesterday
- What other signs of bleeding would you look for?
SCENARIOS
- Patient who is a carrier of hemophilia A severe
- has a factor level of 11%
- calls saying she is pregnant
- What questions would you ask this patient?
- What do you think the plan of care should be?
- Patient's mom calls
- Patient has hemophilia A severe
- Patient having more bleeds than usual
- What other questions would you ask?
- What do you think is going on with the patient?
QUESTIONS ABOUT HEMOPHILIA?
QUESTIONS
VON WILLEBRAND DISEASE
Most common, presents in 75%-80% of people with vWD, mild symptoms
VWF protein does not work properly
Present in 15%-20% of patients with vWD; exhibits mores severe bleeding (Type 2A, 2B, 2M, & 2N)
Occurs in 1 out of 1,000,000
Most severe form, < 1% of patients with vWD, resulting no vWF
Factor VIII levels also very low so patients may have symptoms similar to mild hemophilia
CLASSIFICATION OF vWD
TYPE I
- Partial quantitative VWF deficiency
- Prevalence in vWD- 70%-80%
- Autosomal dominant- 50% chance of inheritance
TYPE II
- Qualitative VWF defect
- Four subtypes: 2A, 2B, 2M, 2N
- Prevelance in vWD- 20%
- Autosomal dominant- 50% chance of inheritance
TYPE III
- Virtually complete VWF deficiency & decreased factor VIII
- Prevalence in vWD < 5%
- Two Type I's pass on their genetic mutations
vWD Type II(s)
TYPE II
- Qualitative VWF defect
- Four subtypes: 2A, 2B, 2M, 2N
- Prevelance in vWD- 20%
- Autosomal dominant- 50% chance of inheritance
VWD Type 2A
Decreased platelet binding. Loss of HMWM
VWD Type 2N
Decrease FVIII binding
Low FVIII levels
VWD Type 2B
Increased plataelet binding
Thrombocytopenia
VWD Type 2M
Decreased platelet binding
Normal multimers
Ng C, et al. Blood. 2015;125:2029-37 .
vWD CLINICAL PRESENTATION
TREAMENT OF vWD
- DDAVP IVPB or Stimate Nasal Spray
- Used to treat patients with Hemophilia A (Mild) and VWD Type 1 & sometimes 2A.
- Not recommended in the perinatal period. Oral fluid restrictions for 24 hours.
- Higher Concentrate
- VWF Replacement:
- Plasma derived VWF/Factor VIII concentrates: Humate-P, Alphanate, Wilate
- Recombinant VWF: VONVENDI.
- Adjunctive therapies
- Hormonal control of menstruation (OCP, depoprovera, hormone IUD)
- Antifibrinolytics (Amicar and Lysteda-(tranexamic acid)
MUCOSAL BLEEDING
- Epistaxis/excessive nosebleeds
- not always externally visible
- Gingival bleeding
- Menorrhagia
- GI bleeding
EASY OR EXCESSIVE BRUISING
POST-PROCEDURE BLEEDING
- Bleeding following tooth extraction
- Postoperative bleeding
- Postpartum hemorrhage
TREATMENT OF VWD
TREAMENT OF vWD
DDAVP IVPB or Stimate Nasal Spray
Used to treat patients with Hemophilia A (Mild) and VWD Type 1 & sometimes 2A.
Not recommended in the perinatal period. Oral fluid restrictions for 24 hours.
Higher Concentrate
VWF Replacement:
Plasma derived VWF/Factor VIII concentrates: Humate-P, Alphanate, Wilate
Recombinant VWF: VONVENDI.
Adjunctive therapies
Hormonal control of menstruation (OCP, depoprovera, hormone IUD)
Antifibrinolytics (Amicar and Lysteda-(tranexamic acid)
ANTIFIBRINOLYTIC AGENTS
- Inhibits plasminogen activation thereby preventing normal clot destruction. Ensures the stability of the clot and allows for better control of the bleeding.
- Amicar-(Aminocaproic acid):
- Can be administered orally to persons with nasal, oral and uterine bleeding
- Oral (elixer or tablet)
- Aminocaproic Acid IV Solution
- Amicar is commonly used following tooth extraction and oral surgery to prevent clot lysis.
- Lysteda-(tranexamic acid)
- Used to treat heavy menstrual bleeding
SCENARIOS
- Patient calls saying
- nose bleeding
- What other questions would you ask this patient?
- What would be your next steps?
- Patient calls saying
- heavy period
- tiredness
- craving ice chips
- What other questions would you ask this patient?
- What would be your next steps?
- Patient calls saying
- dark stool (x3)
- gurgling stomach
- lightheaded
- What kind of bleed do you think this patient is having?
- What other questions would you ask this patient?
- What would be your next steps?
HEMOPHILIA OUTREACH CENTER
HOC
- Please do not hesitate to call if there are ANY questions.
- Phone 1-920-965-0606
- You may fax reports to the Center at 1-920-965-0607
- We are available 24 hours/7 days a week.
ROLE OF AN HTC
- State-of-the-art medical treatment for persons with a bleeding disorder through their life span
- Education
- Research
- Outreach
- Model of comprehensive care for chronic disease
ROLE OF AN HTC
SOURCES
CITATIONS
- Banks, RN, D. (2012). Introduction to Bleeding Disorders. Retrieved Jan. & Feb., 2018, from https://www.hemophilia.org/sites/default/files/document/files/Nurses-Guide-Chapter-1-Introduction-to-Bleeding-Disorders.pdf
- Hemophilia A. National Hemophilia Foundation website. http://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Hemophilia-A. Accessed October 14, 2016.
- Fast facts. National Hemophilia Foundation website. http://www.hemophilia.org/About-Us/Fast-Facts. Accessed October 14, 2016.
- McDaniel, RN, M. (2013). Treatment of Hemophilia A and B. Retrieved November, 2016, from https://www.hemophilia.org/sites/default/files/document/files/Nurses-Guide-Chapter-6-Treatment-of-Hemophilia-A-B.pdf
- N. (2010, April 1). How Hemophilia is inherited [Photograph]. The Royal College of Midwives, N/A. Infographic
- White, RN, MSN, E., Christie, RN, ACRN, B., & Orto, RN, BSN, MPA, C. (2013). Common Bleeding Episodes. Retrieved November, 2016, from https://www.hemophilia.org/sites/default/files/document/files/Nurses-Guide-Chapter-4-Common-Bleeding-Episodes.pdf
- W. (n/a). Introduction to Hemophilia [Degrees of Severity ]. Retrieved February, 2018, from http://www.hemophiliabangalore.org/images/gallery/part.1.4.html Infographic
- N. (2016, July 11). Hemophilia. Retrieved February 22, 2018, from https://www.cdc.gov/ncbddd/hemophilia/data.html
- N. (2011, September 13). Hemophilia. Retrieved November 23, 2017, from https://www.cdc.gov/ncbddd/hemophilia/diagnosis.html
- W. (n.d.). Symptoms and diagnosis. Retrieved November 23, 2017, from https://www.wfh.org/en/page.aspx?pid=640
- N. (n.d.). How Hemophilia Affects Blood Clotting [Normal Clotting Process v. Clotting with Hemophilia]. Retrieved November 23, 2017, from http://brokenblood.co.uk/haemophilia-explained/how-haemophilia-affects-blood-clotting/
- NuFactor Specialty Pharmacy. (2016). Coagulation Products Reference [Brochure]. Temecula, CA: Author. Reflects prescribing information for products as of July 2016, BR149
- National Hemophilia Foundation. (2016, July). The Basics of Hemophilia. Lecture presented at Nursing Working Group in NHF Annual Meeting .
- Ness, M. (Director). (2010). Bad Blood: A Cautionary Tale [Video file]. United States: Necessary Films. Retrieved from http://www.BadBloodDocumentary.com
- Lysteda. (2012, September). Retrieved February 23, 2018, from http://www.lysteda.com/
- World Hemophilia Foundation. (2008, April). Protocols for the Treatment of Hemophilia & von Willebrand Disease [PDF]. Georgia: WFH.
- PRODUCTS. (2004). Retrieved February 23, 2018, from http://www.itxm.org/tmu/tmu2004/issue2004-1.htm
- CSL Behring. (2010, December). CSL Behring Stimate Package Insert [PDF]. FDA.
- Sanofi-aventis U.S. LLC. (2007). DDAVP Nasal Spray Package Insert [PDF]. Bridgewater: FDA.
- Zappa, RN , S. C., Lacasse, RN, L., Jacobson, RN, R., Purcell, RN, S., Wulff, RN, K., Lillicrap, MD, FRCPC, D., & Torres, MD, M. (2006). Emergency Care for Patients with von Willebrand Disease [PDF]. ZLB Behring.
- Nati
HAPPY HEMOSTASIS
Remember to consult the local HTC
QUESTIONS
Q&A