women with bleeding disorders nairobi, kenya june 25, 2013
TRANSCRIPT
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WOMEN WITH BLEEDING DISORDERS
Nairobi, Kenya
June 25, 2013
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OBJECTIVES
• Discuss the types of bleeding disorders affecting women
• Distinguish sex-linked inheritance from autosomal inheritance
• Explain carrier versus non-carrier states in women
• List common bleeding symptoms in women
• Identify approaches available to treat bleeding in women
• Examine ways to treat bleeding episodes specific to women
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TYPES OF BLEEDING DISORDERS IN WOMEN
- Hemophilia: very rare, more commonly symptomatic carrier
- Von Willebrand disease
- Other plasma protein (factor) deficiencies
- Platelet function defects
- Fibrinolysis inhibitor deficiencies
- Hereditary hemorrhagic telangiectasia (HHT)
- Ehlers-Danlos
ADDITIONAL TEXT EXAMPLE
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CARRIERS OF HEMOPHILIA
• For many years, people believed that only men could have symptoms of hemophilia
• We now know that women who carry the hemophilia gene can experience symptoms.
• A woman with < 40% factor levels is no different from a man with the same factor levels—she has hemophilia
• A woman with levels of 40-60% who experiences abnormal bleeding is called a symptomatic carrier
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CARRIER VERSUS NON-CARRIER
• Can occur on sex chromosomes and autosomes
• Trait generally not expressed in carriers
• Level of missing protein in carriers can be quite low; even in the mild range
• Some carriers may be symptomatic
• Remember: all daughters born to men with hemophilia are obligate carriers.
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PLASMA PROTEIN DEFICIENCIES
Sometimes called rare bleeding disorders (RBDs)1 or recessively-inherited coagulation defects (RICDs)2
Differ from hemophilia A & B1,2,3
• Genetics
• Epidemiology
• Clinical presentation
• Diagnostic evaluation
• Treatment
May lack specific protein concentrate for treatment
1Bolton-Maggs PHBet al. Haemophilia 2004; 10: 593-628.2Mannucci PM, Duga S, Peyvandi F. Blood 2004; 104: 1243-1252.3Munn, James E. Nursing Care of Children and Adolescents with Cancer and Blood Disorders, Fourth Edition, Glenview, IL; Association of Pediatric Hematology Oncology Nurses; 2011: 818-876.
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PLATELET DISORDERS
Giulio Bizzozero discovered function of platelets in 1882
Role of platelets in hemostasis:
• Primary hemostatic plug
• Secretion of substances to promote
• Platelet recruitment
• Vessel contraction
• Coagulation
• Provide optimal surface for coagulation to proceed
Giulio Bizzozero
Munn, James E. Nursing Care of Children and Adolescents with Cancer and Blood Disorders, Fourth Edition, Glenview, IL; Association of Pediatric Hematology Oncology Nurses; 2011: 818-876.
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PLATELETS
MegakaryocyteSpleen
1/3 pooled
2/3 in circulation
Normal: 150-450 X 103
Average life span: 7-10 days
Munn, James E. Rare Coagulopathies. In: National Hemophilia Foundation’s Nursing Working Group (ed): Nurses’ Guide to Bleeding Disorders, in print.
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PLATELET DISORDERS
Defects in any of the functions of platelets can result in bleeding
Clinical features: easy bruising, petechiae, mucocutaneous bleeding, menorrhagia, rarely intramuscular bleeding or hemarthrosis
Diagnosis: CBC with differential and platelet count, PFA testing, platelet aggregation and secretion studies, electron microscopy
Treatment
• Antifibrinolytics (IV, oral)
• Hormonal suppression (OCPs, IUD)
• Platelets
• Recombinant activated factor VII
Munn, James E. Rare Coagulopathies. In: National Hemophilia Foundation’s Nursing Working Group (ed): Nurses’ Guide to Bleeding Disorders, in print.
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FIBRINOLYSIS INHIBITOR PROTEIN DEFICIENCIES
Fibrinolysis is the body’s natural response to clot formation
Achieved principally through plasmin (enzyme that degrades clots)
Natural inhibitors help regulate this process
• α2-antiplasmin (α2-AP)
• Plasminogen activator inhibitor-1 (PAI-1)
Deficiencies in either can result in bleeding
Clinical bleeding is usually mucocutaneous
Treatment with antifibrinolytics (IV, oral)
Munn, James E. Rare Coagulopathies. In: National Hemophilia Foundation’s Nursing Working Group (ed): Nurses’ Guide to Bleeding Disorders, in print.
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OTHER BLEEDING DISORDERS
Hereditary hemorrhagic telangiectasia (HHT) (Osler-Weber-Rendu Syndrome)
• AVMs present in mucosal membranes and may involve other organs
• Bleeding can be mild or severe
• Treatment is symptomatic
1Dupuis-Girod S, Bailly S, Plauchu H. J Thromb
Haemost 2010; 8: 1447–1456.
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OTHER BLEEDING DISORDERS
Ehlers-Danlos Syndrome (EDS)
• Connective tissue (collagen) defect
• Clinical features– Joint hypermobility– Skin hyperelasticity– Hypertrophic scarring
• Bruising, spontaneous joint subluxations, poor wound healing
• Treatment is geared toward prevention or is symptomatic2
2Faber P, Craig WL, Duncan JL, Holliday K. Acta Anaesthesiol Scand 2007; 9: 1277-1279.3Munn, James E. Rare Coagulopathies. In: National Hemophilia Foundation’s Nursing Working Group (ed): Nurses’ Guide to Bleeding Disorders, in print.
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INHERITANCE OF BLEEDING DISORDERS
• Sex-linked: hemophilia, Wiskott-Aldrich Syndrome (platelet disorder)
• Autosomal: VWD, other factor deficiencies, most platelet disorders, fibrinolysis inhibitor deficiencies, HHT, Ehlers-Danlos
- Dominant
- Recessive
- Heterozygous
- Homozygous
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COMMON BLEEDING SYMPTOMS IN WOMEN WITH BLEEDING DISORDERS
• Mucocutaneous bleeding
• Petechiae
• Easy bruising
• Bleeding after trauma or surgery (including dental procedures)
• Menorrhagia
• Post-partum hemorrhage
• Rarely, intramuscular bleeding or hemarthrosis
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TREATMENT FOR BLEEDING
• Avoid IM injections if possible
• Avoid ASA and ASA-containing products
• Prepare for surgeries/deliveries in advance
• No invasive procedures without consultation of HTC team
Minor bleeding Major bleedingR.I.C.E Factor concentrates
Direct pressure Platelets
Topical hemostatic agents Cryoprecipitate
DDAVP FFP
Antifibrinolytics
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MENORRHAGIA
• Excessive uterine bleeding occurring at the expected intervals of the menstrual periods.
• The bleeding from the uterus starts on schedule but is heavier than usual and may last longer than usual.
• Menorrhagia may be a sign of an underlying disorder, such as hormone imbalance, endometriosis, uterine fibroids or, rarely, cancer of the uterus.
“MedicineNet.com” – We bring doctors’ knowledge to you.http://www.medterms.com/script/main/art.asp?articlekey=4353
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MENORRHAGIA
• Common symptom of women with bleeding disorders1
• Obstetricians/gynecologists may not associate menorrhagia with an inherited bleeding disorder2
• May result in unnecessary surgery if not treated appropriately
• Remember: the index patient identified by Erik von Willebrand in his discovery of a new bleeding disorder was a young girl who eventually died of hemorrhage in her 4th menstrual cycle3
1NHF “For You and Your Doctor” pamphlet (2001).2Dilley, A., et al (2001) “Obst. And Gyn: 97 (4), 630-636. April.3von Willebrand, E. (1926)
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TREATMENT OF MENORRHAGIA
• DDAVP
• Antifibrinolytics
• Oral contraceptive pills
• Factor replacement/Blood products
• IUDs
• Surgical interventions
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TREATMENT OF EXCESSIVE MENORRHAGIA
• OCP “Formula” to stop recalcitrant menorrhagia
Lo-ovral:
– 1 pill QID x 2 days
– 1 pill TID x 3 days
– 1 pill BID x 4 days
• Resume suppression therapy, usually 1-2 pills per day
• Use of anti-emetics, analgesics a must
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OBSTETRICAL/POST-PARTUM BLEEDING TREATMENT
For the mother:
• Previous bleeding history and response to therapy usually best indicator of OB/post-partum bleeding/treatment
• Consider treatment at delivery and again at days 5-7
• Factor concentrates to raise factor levels to >30%
• DDAVP – give immediately after delivery or at delivery of baby’s head
• NSVD is fine; consider cesarean for known carriers
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OBSTETRICAL/POST-PARTUM BLEEDING
For the baby:
- Avoid suction or forceps delivery and fetal scalp monitoring
- Take cord blood samples to avoid venipuncture bleeding
- Consider cranial ultrasound in boys suspected to have hemophilia prior to discharge from hospital
- Pediatrician should be available
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SUMMARY
• Women may have a variety of bleeding disorders that require specialized care
• Inheritance patterns are different for different bleeding disorders
• Carriers may be symptomatic and require treatment for bleeding
• Menorrhagia is one of the most common bleeding manifestations in women
• Treatments are available
• Special care must be taken with pregnancy and delivery
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WFH RESOURCES
• Carriers and Women with Hemophilia
• Reproductive Health in Women with Bleeding Disorders
• Symptomatic Carriers of Hemophilia
Visit the Publications Library at www.wfh.org/publications for free copies