women with bleeding disorders
DESCRIPTION
Women with Bleeding Disorders. Nairobi, Kenya. June 25, 2013. 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 - PowerPoint PPT PresentationTRANSCRIPT
WOMEN WITH BLEEDING DISORDERS
Nairobi, Kenya
June 25, 2013
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
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
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
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.
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• TreatmentMay lack specific protein concentrate for treatment1Bolton-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.
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.
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.
PLATELET DISORDERS
Defects in any of the functions of platelets can result in bleedingClinical features: easy bruising, petechiae, mucocutaneous bleeding, menorrhagia, rarely intramuscular bleeding or hemarthrosisDiagnosis: CBC with differential and platelet count, PFA testing, platelet aggregation and secretion studies, electron microscopyTreatment• 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.
FIBRINOLYSIS INHIBITOR PROTEIN DEFICIENCIES
Fibrinolysis is the body’s natural response to clot formationAchieved 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 bleedingClinical bleeding is usually mucocutaneousTreatment 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.
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.
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.
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
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
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 concentratesDirect pressure PlateletsTopical hemostatic agents CryoprecipitateDDAVP FFPAntifibrinolytics
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
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)
TREATMENT OF MENORRHAGIA
• DDAVP
• Antifibrinolytics
• Oral contraceptive pills
• Factor replacement/Blood products
• IUDs
• Surgical interventions
TREATMENT OF EXCESSIVE MENORRHAGIA
• OCP “Formula” to stop recalcitrant menorrhagiaLo-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
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
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
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
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