scholarly journals But Women Can't Have ‘Hemophilia’!: A Look at the Lives of Women with Bleeding Disorder

1998 ◽  
Vol 3 (4) ◽  
pp. 14-25
Author(s):  
Diane Kholos Wysocki
Keyword(s):  
Hemophilia A ◽  
Bleeding Episode ◽  
Family Members ◽  
Bleeding Disorder ◽  
Diagnosis And Treatment ◽  
Medical Community ◽  
Menstrual Bleeding ◽  
Menstrual Cycles ◽  
Hemophilia Treatment Centers ◽  
Medical Perspective

Most of the literature about hemophilia has been from a medical perspective and about men. This on-going project has been to document the lives and ‘voices’ of women who have a bleeding disorder, their experiences with the medical community, and the course of their diagnosis and treatment. The women in this study were predominantly Caucasian (92%), were currently married (66.7%), had (68.9%), and of those women who had children, the majority of their children (67.9%), both boys and girls, as well as other family members(63.3%) had some type of bleeding disorder. Findings revealed there was on average, a 14 year gap between the first bleeding episode and the diagnosis of a bleeding disorder. Women reported long, heavy menstrual cycles and having consulted a physician for menstrual bleeding as teenagers. Treatments for menstrual bleeding included D and C's (42.9%) and hysterectomies (34.5%), while referrals to Hemophilia Treatment Centers for a consultation were rare.

Oral Bleeding In Hemophilia; A 21 Year Composite

1981 ◽  
Author(s):  
A Sonis ◽  
W A Andes ◽  
B Smith
Keyword(s):  
Buccal Mucosa ◽  
Hemophilia A ◽  
Bleeding Episode ◽  
Bleeding Disorder ◽  
Direct Result ◽  
Anatomical Distribution ◽  
Severity Of Disease ◽  
Number Of Patients ◽  
Annual Frequency ◽  
Bleeding Episodes

The charts of 132 patients with proven factor VIII deficiency were analyzed for severity of disease, mean age, mean age at diagnosis, and number of patients diagnosed following a bleeding episode. In addition, the frequency of bleeding episodes requiring factor infusion was determined for a single calendar year. Infusions for dental care (i.e. restorations, extractions) were excluded from the study. Severe and moderate hemophiliacs comprised 71% of the patient’s studied. Their mean age was 27 years and their mean age when a bleeding disorder was suspected was under 1 month. Mild hemophiliacs comprised 27% of the patients studied. Their mean age was 27 years and their mean age when a bleeding disorder was suspected was 8 months. Persistent oral bleeding resulted in the diagnosis of hemophilia in 9% of the patients. None of these patients were severe hemophiliacs. The group diagnosed as a result of persistent oral bleeding was comprised of 11 mild and 1 moderate hemophiliacs. This constituted 29% of all the mild hemophiliacs and 2% of all the moderate hemophiliacs. The average annual frequency of bleeding episodes per patient requiring factor was as follows; severe-24 infusions of which were for oral bleeds, moderate-21 infusion of which were for oral bleeds, mild-16 infusions for which were for oral bleeds. The anatomical distribution of oral bleeds requiring infusion revealed the lips most frequently involved (48.5%) followed by the tongue (35.3%), buccal mucosa (15.4%), gingiva and palate (0.9%). The results of this study suggest that mild hemophiliacs are diagnosed at a later age than moderate and severe hemophiliacs, and that 29% of mild hemophiliacs are diagnosed as the direct result of an oral bleed. In view of these findings, a persistent oral bleed should alert the physician or dentist to a possible bleeding disorder.

Public Health Surveillance of People Not Receiving Care at US Federally-Funded Hemophilia Treatment Centers: Treatment, Sources, and Utilization of Healthcare in the Choice Project

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 4761-4761
Author(s):  
Wendy E. Owens ◽  
Meredith Oakley ◽  
Binh C. Le ◽  
Vanessa R. Byams
Keyword(s):  
Healthcare Provider ◽  
Hemophilia A ◽  
Healthcare Providers ◽  
Bleeding Disorder ◽  
Clotting Factor ◽  
Hormonal Contraceptives ◽  
Bleeding Disorders ◽  
Federally Funded ◽  
Regular Care ◽  
Hemophilia Treatment Centers

Abstract Introduction: An estimated 30% of persons with hemophilia (PWH) in the US do not receive care at federally-funded hemophilia treatment centers (HTCs). These estimates suggest that perhaps 6,000 PWH and an unknown number of persons with other genetic bleeding disorders receive care elsewhere (non-HTC PWBD). Data on non-HTC PWBD are not collected on a regular basis nor maintained in a central database. Consequently, little is known about their characteristics, treatment, or care. CDC partnered with a national non-profit, consumer-focused organization, Hemophilia Federation of America (HFA), on the CHOICE Project to collect information on non-HTC PWBD to better estimate disease burden and inform planning, decision making, and programming. The objective of this analysis is to describe the treatment, sources, and patterns of care for non-HTC PWBD. Methods: From 04/2013-07/2015, HFA recruited US PWBD >/=18 years old (adults) and caregivers of children with bleeding disorders for CHOICE through email, social media, print, and word-of-mouth to take a ~20 minute survey in English or Spanish, online or on paper. Non-HTC PWBD were solicited specifically but others were not excluded from participation. Participants' status as non-HTC PWBD was determined using an algorithm based on responses to specific survey questions. For this analysis, survey elements included demographics, diagnosis, treatment regimen and treatment products used, and health services utilization (usual source of care, frequency of care, barriers to regular care, delay of care, hospital emergency room (ER) utilization, and hospitalizations within the past 12 months). Results: One hundred seventy-seven (22%) participants from 805 eligible surveys were identified as non-HTC PWBD: 52.5% male; 72.7% adult; mean age 33 years (±19). One hundred fifty-six (88.1%) reported a single bleeding disorder diagnosis; 21 reported multiple diagnoses. See Tables 1 and 2: The most commonly used treatments for hemophilia A or B were recombinant clotting factor concentrate (factor) (75.9%), topical or non-plasma products (e.g., desmopressin) (19.5%), and plasma-derived factor (11.5%). Non-plasma or topical products (50.0%), plasma-derived factor VIII (47.1%), and hormonal contraceptives (26.5%) were used to treat von Willebrand disease. Over 77% of those using intravenous product infused at home; 45.3% self-infused. Of those using factor, 47.5% used it to prevent bleeds with 38.2% practicing continuous prophylaxis. Approximately 32% did not visit a healthcare provider regularly for their bleeding disorder; top reasons included no need for regular care (51.9%) and expense (22.2%). One hundred seven (61.5%) respondents had one (38.1%) or more (61.9%) healthcare providers from whom they received care for their bleeding disorder. Nearly 88% (94) visited a hematologist; when a hematologist was not visited, the family practitioner was the next most common provider used (6.6%). The most common places for care were the doctor's office (49.4%), ER (16.1%), and hospital outpatient department (12.1%). In the last 12 months, 33.3% visited an ER and 18.6% were admitted to a hospital due to their bleeding disorder; 32.9% delayed or did without needed care due mostly to expense/lack of insurance (54.4%), lack of healthcare providers (21.7%), or inconvenience (17.4%). Children were more likely than adults to: have a usual healthcare provider (75.0% vs. 56.8%, p=.03); visit a healthcare provider regularly for care of their bleeding disorder (97.9% vs. 57.0%, p<.0001); and use recombinant factor (hemophilia A or B) (96.4% vs. 66.1%, p=.002). Women delayed or did without care more than men (57.7% vs. 42.3%, p=.03). Conclusions: The majority of non-HTC PWBD in this project received treatment for their bleeding disorder and reported care from an appropriate health care provider; however, about 16% with needs did not see a healthcare provider regularly and over one-third delayed or did without care. This sample does not necessarily represent all non-HTC PWBD, as affiliation with an HTC was not always clear and targeted outreach by HFA Member Organizations in some regions may have led to over-representation of some participant characteristics. Additional analysis of non-HTC PWBD health outcomes is needed to determine whether those outcomes differ from other PWBD and to understand how best to identify and recruit non-HTC PWBD for surveillance. Disclosures Owens: Haplomics Inc.: Consultancy, Equity Ownership.

scholarly journals Efficacy and safety of the drug Octofactor in prophylactic treatment in patients with severe haemophilia A

2018 ◽  
Vol 5 (3) ◽  
pp. 60-73 ◽  
Author(s):  
T. A. Andreeva ◽  
V. Yu. Zorenko ◽  
I. L. Davydkin ◽  
V. N. Konstantinova ◽  
O. E. Zalepukhina ◽  
...  
Keyword(s):  
Hemophilia A ◽  
Bleeding Episode ◽  
Coagulation Factor ◽  
Preventive Treatment ◽  
Haemophilia A ◽  
Severe Haemophilia ◽  
Efficacy And Safety ◽  
Spontaneous Bleeding ◽  
Bleeding Episodes ◽  
Blood Coagulation Factor Viii

Relevance.The development of a new recombinant blood coagulation factor VIII preparation is a promising step towards optimizing the treatment of hemophilia A. An introduction of a new medication into clinical practice precedes a clinical trials to evaluate the efficacy and safety.Materials and methods.The efficacy and safety of the domestic recombinant B-domain deleted blood coagulation factor VIII (FVIII) (moroctocog alfa, Octofactor®, JSC “GENERIUM”) were studied in the preventive treatment of 31 patients aged 21 to 52 years with severe haemophilia A. The Octofactor was administered in doses of 40 ± 5 IU/kg 3 times per week at intervals of at least 48 hours for 21 ± 1 weeks.Results.The efficacy of therapy was evaluated in 30 patients, since 1 patient refused to participate in the trial after the first injection of the study medication. There were registered 43 episodes of bleeding among 11 patients in the course of the preventive treatment with Octofactor. The average number of bleeding episodes was 1.4 ± 2.58. There were 43 bleeding episodes, 9 (20.9 %) of them were posttraumatic, 34 (79.1 %) of them were spontaneous. The average number of the spontaneous bleeding episodes (a major criterion of the efficacy) was 1.13 ± 2.19, which showed a low incidence of exacerbations of the hemorrhagic syndrome in the course of preventive treatment with Octofactor. Among all registered bleeding episodes there were 6 (14 %) mild episodes, 37 (86 %) moderate episodes. Among all spontaneous bleedings there were 6 mild episodes (17.6 %), 28 (82.4 %) moderate episodes. All posttraumatic bleedings were moderate. The vast majority (36, or 83.7 %) of bleeding episodes were stopped with administration of the Octofactor. The average number of administrations of the Octofactor for arresting 1 bleeding episode was 1.2 ± 0.56, for 1 spontaneous bleeding episode – 1.2 ± 0.59. On average, it was required to administer 3534.9 ± 2329.02 IU of the Octofactor to stop 1 episode of bleeding. In the vast majority of patients with severe hemophilia A (83.3–86.7 %),  the remaining activity FVIII was 1 % or more after the administration of the Octofactor in 48 hours. The total amount of the Octofactor, introduced for the prevention of bleeding, was 6,107,000 IU, to stop bleeding – 152,000 IU. The safety of therapy was evaluated in 31 patients. There were recorded 25 adverse events (AE) in 17 patients. Among them the laboratory ones prevailed in 23 (92 %) cases, which is not associated with the use of the trial medication. There were noted nausea and an unpleasant aftertaste in the mouth in 1 patient during the first administration of the Octofactor, and therefore he refused to continue to participate in the trial. Causality 2 AE with the study drug was regarded as definite. Such AE are expected and described in the instructions to the preparation. All AE were not serious and mild and resolved without outcomes. There were no presented thromboembolic events and immunogenic reactions.Conclusions.The obtained data testify to the efficacy and safety of the Octofactor both for preventive measures and for stopping bleeding in adult patients with severe hemophilia A.

scholarly journals Effective treatment of different types of polycystic ovary syndrome in adolescent girls

2022 ◽  
pp. 56-60
Author(s):  
E. V. Uvarova ◽  
E. P. Khashchenko ◽  
S. O. Kyurdzidi
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Effective Treatment ◽  
Adolescent Girls ◽  
Treatment Strategy ◽  
Polycystic Ovary ◽  
Young Female ◽  
Diagnosis And Treatment ◽  
Medical Community ◽  
Ovary Syndrome ◽  
Female Patients

This review is addressing an urgent problem of diagnosis and treatment strategy of polycystic ovary syndrome in adolescent girls. We analysed data from modern literary publications on the epidemiology and classification of the disease, as well as the adaptation of general principles for the management of young female patients tailored to their age peculiarities. The effective treatment strategies for adolescent girls with PCOS depending on its type are presented. Today there are several contradictions associated with both the diagnosis and treatment of the disease in the medical community. Thus, the use of the well-known Rotterdam criteria makes it difficult to diagnose PCOS in adolescent girls, since the criteria do not take into account characteristic changes that occur during puberty. Such manifestations as acne, hirsutism, menstrual irregularities, high androgen levels and morphology of polycystic ovaries on pelvic ultrasound imaging should be assessed with due account for age, puberty, hormonal balance with an assessment of the ratio of LH (luteinizing hormone)/FSH (follicle-stimulating hormone) and Free Androgen Index. There is no consensus in the medical community regarding the treatment strategy for PCOS. International communities have identified two main goals in the management of patients: normalization of menstrual function and improvement of the patients’ quality of life by preventing clinical symptoms of hyperandrogenism, and metabolic disorders of hyperplastic processes in target organs.Our analysis of objective scientific data showed that modern monophasic combined oral contraceptives (COCs) supplemented by of a folate component should be used to treat young female patients with PCOS, hyperandrogenism and psychosomatic disorders.

Patient voice and health education for familial hypercholesterolaemia

2021 ◽  
pp. 001789692110559
Author(s):  
Scott McIntosh ◽  
Cameron Coykendall ◽  
Yifei Sylvia Lin ◽  
Matthew Caufield ◽  
Joe Muller ◽  
...  
Keyword(s):  
Qualitative Research ◽  
Health Education ◽  
Health Knowledge ◽  
Familial Hypercholesterolaemia ◽  
Family Members ◽  
Primary Care Providers ◽  
Diagnosis And Treatment ◽  
Health Priorities ◽  
Care Providers ◽  
Premature Cardiovascular Disease

Objective: Familial hypercholesterolaemia (FH), an autosomal dominant disorder causing elevated low-density lipoprotein (LDL) cholesterol from birth resulting in premature cardiovascular disease, is only diagnosed in 10% of affected patients. This study involved partnering with patients with FH and with primary care providers (PCPs) to understand health priorities and translate them into hypotheses for future research and enhancement of health practices via electronic health records (EHRs). The goal was to strengthen genetic health education for clinicians and for patients and their families, including improved diagnosis, knowledge and treatment. Perceptions regarding genetic health education and healthcare related to FH facilitated by the use of an EHR for diagnosis and treatment have not been studied. Design: Mixed-methods exploratory qualitative research and surveys. Setting: Qualitative research included five focus groups, 34 semi-structured key informant interviews and open-ended survey items with patients and PCPs at a large medical centre in Western New York. Method: Data were thematically coded to identify themes as formative work for the improvement of relevant EHR features, diagnosis, treatment and genetic health education via information sharing between clinicians and patients. Results: Themes included genetic health knowledge; the importance of being diagnosed; communication between patients, family members and medical professionals; outreach via patients’ own advocacy; and treatment, technology, motivation, trust, outside resources (for further genetic health education and support) and awareness of effective treatments. Conclusion: Patients and clinicians can contribute to the development of EHR support for the genetic health education of patients and their families, and for improved diagnosis and treatment of FH. Using their ideas in the development of effective strategies could improve the currently low rate of FH diagnosis and cascade screening (for family members), as well as enhance physician and patient genetic health knowledge and self-empowerment.

Heavy Menstrual Bleeding in the Adolescent

2019 ◽  
Author(s):  
Kimberly Huhmann ◽  
Andrea Zuckerman
Keyword(s):  
Differential Diagnosis ◽  
Aminocaproic Acid ◽  
Bleeding Disorder ◽  
Von Willebrand Disease ◽  
Heavy Menstrual Bleeding ◽  
Menstrual Bleeding ◽  
Oral Contraceptive Pills ◽  
Sexually Transmitted ◽  
Contraceptive Pills ◽  
Von Willebrand

Heavy menstrual bleeding is a common presenting problem in the adolescent population. The average age of menarche is between 12 and 13 years. The most common reason for heavy menstrual bleeding soon after menarche is from an immature hypothalamic ovarian access, which spontaneously resolves once cycles become ovulatory. However, the broad differential diagnosis for heavy menses in adolescents includes coagulopathy, thyroid disease, sexually transmitted infections, specifically chlamydia, and chronic medical conditions. Von Willebrand disease is the most common bleeding disorder that can present with heavy menstrual bleeding at menarche or shortly after. A thorough history and physical exam with occasional labs needs to be completed and can assist in narrowing the differential diagnosis. Treatment of heavy menstrual bleeding consists of hormonal and nonhormonal options: combination oral contraceptive pills, patches, or rings taken continuously or cyclically; progesterone-only pills; progesterone implants; progesterone intrauterine devices; cyclic tranexamic acid; cyclic aminocaproic acid; and GnRH agonists with add-back therapy. This review contains 3 tables, and 28 references. Key Words: adolescent menses, anovulation, bleeding disorder, heavy menstrual bleeding, immature hypothalamic ovarian axis, menarche, treatment of heavy menses, Von Willebrand disease

scholarly journals Analysis of intron 22 inversions of the factor VIII gene in severe hemophilia A: implications for genetic counseling

Blood ◽  
1994 ◽  
Vol 84 (7) ◽  
pp. 2197-2201 ◽  
Author(s):  
PV Jenkins ◽  
PW Collins ◽  
E Goldman ◽  
A McCraw ◽  
A Riddell ◽  
...  
Keyword(s):  
Factor Viii ◽  
Genetic Counselling ◽  
Hemophilia A ◽  
Family Members ◽  
Rflp Analysis ◽  
Homologous Region ◽  
Severe Hemophilia ◽  
Factor Viii Gene ◽  
Intron 22 Inversion ◽  
Blotting Technique

Abstract Intrachromosomal recombinations involving F8A, in intron 22 of the factor VIII gene, and one of two homologous regions 500 kb 5′ of the factor VIII gene result in large inversions of DNA at the tip of the X chromosome. The gene is disrupted, causing severe hemophilia A. Two inversions are possible, distal and proximal, depending on which homologous region is involved in the recombination event. A simple Southern blotting technique was used to identify patients and carriers of these inversions. In a group of 85 severe hemophilia A patients, 47% had an inversion, of which 80% were of the distal type. There was no association with restriction fragment length polymorphism (RFLP) haplotypes. The technique has identified a definitive genetic marker in families previously uninformative on RFLP analysis and provided valuable information for genetic counselling information may now be provided for carriers without the need to study intervening family members and the diagnosis of severe hemophilia A made in families with only a nonspecific history of bleeding. Analysis of intron 22 inversion should now be the first-line test for carrier diagnosis and genetic counselling for severe hemophilia A and may be particularly useful when there is no affected male family member or when intervening family members are unavailable for testing.

A Comparison of Menstrual Bleeding Patterns Associated with Three Iud Models: An Example of Reference Period Analysis

1977 ◽  
Vol 9 (1) ◽  
pp. 121-135 ◽  
Author(s):  
David G. Mayes
Keyword(s):  
Pattern Analysis ◽  
Previous Analysis ◽  
Menstrual Bleeding ◽  
Reference Period ◽  
Bleeding Pattern ◽  
Period Analysis ◽  
Menstrual Cycles ◽  
Principal Feature ◽  
Advantages And Disadvantages ◽  
Methods Of Analysis

The purpose of this paper is two-fold; first, it seeks to examine the differences in menstrual bleeding patterns between users of three IUD models and second, it presents the advantages and disadvantages of the methods of analysis recommended by the Exeter Workshop on Bleeding Pattern Analysis reported by Snowden (1977, see p. 107 of this issue). The principal feature of this means of comparison is that the pattern of menstrual bleeding is assumed to be complex and multivariate. Previous analysis has tended to concentrate on the length of menstrual cycles, where such cycles are denned as the interval between the onset of one period of menstrual bleeding and the next. In addition to this type of information, the present study also incorporates information on the length and variability of periods of bleeding and intervals between bleeding. This information is readily available and easily collected.

An Increase in Factor VIII Levels with Increasing Age in a Subgroup of Individuals with Mild Hemophilia A

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 2278-2278 ◽  
Author(s):  
Lauren J Lee ◽  
John K. Wu ◽  
Man-Chiu Poon ◽  
Shannon Jackson
Keyword(s):  
Hepatitis C ◽  
Factor Viii ◽  
Medical Records ◽  
Hemophilia A ◽  
Conflicts Of Interest ◽  
Bleeding Disorder ◽  
Physiological Age ◽  
Management Options ◽  
Southern Alberta ◽  
The Mean

Abstract Abstract 2278 Background: Hemophilia A is an X-linked hereditary disorder resulting in absent or reduced levels of functional factor VIII (FVIII:C). The baseline FVIII:C levels are important in the determination of treatment and management options in individuals with mild hemophilia who by definition exhibit FVIII:C levels between 6–40 U/dL. In individuals without hemophilia, FVIII:C increases with physiological age and this trend has not been well characterized in mild hemophilia. This is important to consider in mild hemophilia because treatment with factor concentrate or DDAVP may paradoxically increase the risk of venous or arterial thrombosis in older patients. Objectives: To describe the changes in baseline FVIII:C levels with time in a cohort of pediatric and adult subjects with mild hemophilia registered in the British Columbia Provincial and Southern Alberta Bleeding Disorder programs. Methods: All medical records for subjects with FVIII:C levels 6–40 U/dL registered with the BC Provincial and Southern Alberta Bleeding Disorder programs were reviewed for eligibility. Male subjects with a minimum of 2 FVIII:C level measurements at least 5 years apart were included in the analysis. Retrospective data was extracted from database/medical records, including age, gender, blood group, FVIII mutation, historical FVIII:C levels, historical DDAVP response (>3 fold and/or >50 U/dL), and co-infection (Hepatitis C, B and HIV) status. Linear mixed effects regression models were used to examine time trend of FVIII:C levels and subjects were stratified into 3 groups based on baseline FVIII:C (FVIII:C<15 U/dL, 15–24 U/dL, and ≥25 U/dL). Results: 198 records were reviewed and 116 subjects excluded from the analysis (chart unavailable, n=28; inadequate FVIII:C data, n=79; female, n=9) leaving 82 subjects who met eligibility criteria. The mean age at first FVIII:C measurement was 24.0 years (SD 19.6; Range 0.0–77.8). The mean follow-up time was 16.5 years (SD 19.6; Range 4.8–44.8). There was no observable trend of FVIII:C with time in the primary analysis of the whole cohort (p=0.667). However, for subjects with baseline FVIII:C<15 U/dL, who were ≥25 years of age (n=31), an increase in baseline FVIII:C levels of 0.11 percent per year (p<0.05) was observed. Subjects with baseline FVIII:C<15 U/dL (n=40) also showed less FVIII:C variability between measurements than subjects with FVIII:C≥15 U/dL (n=42). Subjects with baseline FVIII:C≥25 U/dL (n=18) demonstrated a decreasing trend of −0.15 percent per year (p<0.05), however also demonstrated the greatest variability between FVIII:C measurements. Co-infections were present in 24% (n=20) of subjects and included Hepatitis C (n=18), Hepatitis B (n=1), HIV (n=1). 73 subjects had known DDAVP response; >3-fold but ≤50 U/dL (n=11), ≤3-fold but >50 U/dL (n=15), >3-fold & >50 U/dL (n=23), ≤3-fold & ≤50 U/dL (n=24). Conclusion: This study suggests that there is an increase in FVIII:C with time in the subgroup of individuals with mild hemophilia ≥25 years of age and baseline FVIII:C levels <15 U/dL. Further long-term data particularly in the older cohort of subjects is needed to confirm this preliminary finding and further characterize this trend in subgroups with different baseline FVIII:C. Disclosures: No relevant conflicts of interest to declare.

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