9/16/2014. Advances in the Field of Bleeding Disorders Janus Series

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1 Advances in the Field of Bleeding Disorders Janus Series Elizabeth Varga, MS, LGC Nationwide Children s Hospital Division of Hematology/Oncology/BMT Clinical Assistant Professor of Pediatrics The Ohio State University Conflict of Interest Disclosures In relation to this presentation, I declare that there are no conflicts of interest. Objectives Identify advances in treatment, management and the molecular diagnosis of bleeding disorders Describe a genotyping initiative for the hemophilia community Describe the clinical presentation of bleeding disorders in women and the impact of their condition during each life stage Examine opportunities for genetic counselors in the field of bleeding disorders 1

2 Bleeding Disorders Hemophilia A (factor VIII deficiency) Hemophilia B (factor IX deficiency) Combined: 1 in 5,000 live births; Hemophilia A- 4x more common Von Willebrand s disease 1% of U.S. population Rare coagulation factor deficiencies Fibrinogen (factor I), prothrombin (factor II), factor V, factor VII, factor X, factor XI, factor XIII Inherited platelet disorders Definition of Hemophilia Hemophilia: one of the oldest described genetic diseases Model of X-linked inheritance Severe: Clotting factor <1% Moderate: Clotting factor 1-5% Mild: Clotting factor: >5%- 40% The Evolving Story of Hemophilia THEN Short life expectancy with severe bleeding 1900 s- 13 years years 1980 s- AIDS epidemic NOW Mid 1990 s- Recombinant factor products become FDA approved Prophylaxis becomes standard of care 2010: Long acting factor products show promise The hemophilia community is now grappling with issues related to aging Bleeding-Disorders 2

3 Gene Therapy The HTC Network www2a.cdc.gov/ncbddd/htcweb/dir_report/dir_search.asp Molecular Underpinnings of Hemophilia A Hemophilia A Genotype Databases: unique F8 mutations Mutation detection rate (~95%) Testing strategy varies by severity of disease GeneReviews: Hemophilia A 3

4 Molecular Underpinnings of Hemophilia B Hemophilia B Genotyping databases: hemophilia/champs.htm 1,108 unique F9 mutations F9 mutation detection rate ~95% Testing strategy: Sequencing; del/dup secondary Frequency of F9 Mutation Types in the CHBMP Mutation List (CDC data) Figure adapted from: Inhibitor Risk and Genotype Inhibitors are a major cause of morbidity in hemophilia Occur in up to 15-25% of patients who have been treated with factor products 5-7% of hemophilia population has a long-term inhibitor Most develop during the first few infusions Factors associated with inhibitor formation include age, race (more common in African Americans and Hispanics), HLA type, family history of inhibitors, and high intensity factor exposure. Hemophilia A Inhibitor Risk and Genotype Genotype Higher risk mutations Inversion 22 ( %) Large deletions (30-41%) Nonsense mutations (31-37%) Lower risk mutations Missense (4.3-8%) Small deletion or insertion (7.4-22%) Splice site (0-3%) Hemophilia B High risk mutations Large gene deletion, nonsense mutations (null genotype) There is an increased risk of anaphylaxis to factor product in those with null mutations Reference: Miller, C. Haemophilia (2012), 18,

5 My Life, Our Future Genotyping Initiative A national program for the hemophilia community that: Offers a free genotyping test to people with hemophilia A or B Clinical grade genotyping and option of research participation All affected patients are eligible Goals: Provide genotype information for patients and families Learn more about genotype-phenotype correlations Offered through HTC s Will roll out to at-risk/obligate carriers in 2015 Information at booth #118: ATHN/NHPCC Von Willebrand disease (VWD) May be inherited or acquired Is the most common hereditary bleeding disorder General population prevalence: ~1% Arises from a quantitative or qualitative deficiency of von Willebrand factor (vwf) Diagnosis is based on: Low levels of vwf or abnormal multimers Type 1 (75-80% of VWD cases) 10-45% of normal antigen levels Mild to moderate bleeding propensity; autosomal dominant inheritance vwf gene sequencing and del/dup. Yield: 33-60%; greatest yield if <20 IU/dl and/or positive family history Genotyping in VWD Type 2 (10-15% of VWD cases) Abnormal multimers and/or binding assays Variable bleeding propensity (usually moderate) Autosomal dominant or autosomal recessive inheritance Due to mutations in exon 28 only (Yield: 99%) Exception: Type 2N (typically exons 18-20) Type 3 (~5% of VWD cases) vwf antigen <10% Severe bleeding propensity Autosomal recessive vwf gene sequencing and del/dup Yield: 80-90% Reference: 5

6 Benefits of Genotyping in Bleeding Disorders Confirmation of diagnosis when other laboratory testing is not definitive Type 1 VWD and Hemophilia A carrier vs. type 2N VWD Genotype-phenotype information Inhibitor risks Reproductive implications Recurrence risks (autosomal vs. X-linked) Opportunity for IVF with PGD and/or prenatal diagnosis Identification of women at-risk to be carriers of hemophilia Factor levels may be reduced but molecular diagnosis is definitive Hemophilia Carriers Approximately 35% of hemophilia carriers have a low factor VIII or IX level Normal range IU/dl 35% of hemophilia carriers have levels <40 IU/dL Now referred to as having mild hemophilia Bleeding may occur in carriers with levels between IU/dL Other reasons for increased severity Concurrent VWD Turner syndrome, X chromosome microdeletions/translocation, skewed X-inactivation, biallelic mutations (consanguinity) Counseling of Women Through the Life Stages Childhood: Nosebleeds, easy bruising, oral bleeding, bleeding from minor cuts and wounds, bleeding after trauma or surgery, GI or joint bleeding Adolescence: Menorrhagia Consider risks and benefits of hormonal contraception (oral vs. levonorgestrel-releasing intrauterine device (Mirena); tranexamic acid; desmopressin acetate Anemia: iron supplementation Preconception: Genetic risks to offspring Counseling about considerations for pregnancy, childbirth and post-partum (maternal and fetal risks) 6

7 Counseling Through the Life Stages Pregnancy/Childbirth & Postpartum Risk of miscarriage- increased in factor XIII and fibrinogen deficiencies Implications for delivery (vaginal birth vs. Cesarean section) Risks of regional anesthesia (epidural) Testing of fetal cord blood Risks of delayed hemorrhage Perimenopausal Management of bleeding due to hemorrhagic ovarian cysts, fibroids, polyps and endometrial hyperplasia (may present pre-menopausally) Risks and benefits of hormone replacement Prophylaxis for bleeding around procedures Opportunities for Genetic Counselors To educate health care providers: Genetics of bleeding disorders Identification of appropriate molecular tests Categorization of genomic variants Ethical issues surrounding testing Unique needs of patients and families To meet the needs of families: Identification of, and intervention for, at-risk family members, particularly females. To be involved in national/international organizations: National Hemophilia Foundation genetic counseling working group American Thrombosis and Hemostasis Network Genetics Working Group World Federation of Hemophilia Foundation for Women and Girls With Bleeding Disorders Patient Resources 7

8 Patient Resources National Hemophilia Foundation HemAware Foundation for Women and Girls With Blood Disorders: World Federation of Hemophilia: Carriers and women with Hemophilia Genetic Counseling for Hemophilia von Willebrand Disease Rare Clotting Factor Deficiencies and Inherited Platelet Disorders Resources for Genetic Counselors My Life, Our Future: Genotyping Databases GeneReviews: Hemophilia A, Hemophilia B, von Willebrand disease Training and Online Education Partners in Bleeding Disorders Education: References for Genetic Counselors Manuscripts James, A. Women and bleeding disorders. Haemophilia (2010), 16 (Suppl. 5), Miller, C. F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity. Haemophilia (2012), 18, Peyvandi, F. Genetic sequence analysis of inherited bleeding diseases. Blood (2013) 122: Guidelines National Hemophilia Foundation: MASAC Guidelines: Council-MASAC/All-MASAC-Recommendations NHLBI Guidelines on Diagnosis, Evaluation and Management of von Willebrand Disease: Von Willebrand Disease ACOG Committee Opinion: And-Publications/Committee-Opinions/Committee-on-Adolescent-Health-Care/Von-Willebrand- Disease-in-Women 8

9 Acknowledgements Nationwide Children s Hospital- Hemostasis and Thrombosis Center Drs. Dunn, Kerlin, Kumar, O Brien, Rose Nursing staff Patients and families Genetic Counselors: Michelle Alabek, Margaret (Meg) Bradbury, Meadow Heiman, Robina Ingram-Rich, Kristin Paulyson-Nuñez, Marianna Raia Division of Blood Disorders: Centers for Disease Control and Prevention Andra James, MD, MPH 9

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