-
[show abstract]
[hide abstract]
ABSTRACT: Purpose:To assess the utility of US health insurance data for surveillance of hereditary hemorrhagic telangiectasia, an autosomal-dominant blood vasculature disorder with an estimated prevalence of 1.5-2.0 per 10,000 persons worldwide.Methods:We used 2005-2010 MarketScan Research Databases to identify individuals with employer-sponsored health insurance and International Classification of Disease, 9th Revision, Clinical Modification codes of 448.0 present in either one inpatient claim or two outpatient claims 30 days apart to define hereditary hemorrhagic telangiectasia. We examined frequencies of International Classification of Disease, 9th Revision, Clinical Modification codes for conditions that are complications of hereditary hemorrhagic telangiectasia among individuals with hereditary hemorrhagic telangiectasia and the general population to identify combinations of codes associated with hereditary hemorrhagic telangiectasia.Results:Excluding observations from one state, the average prevalence of hereditary hemorrhagic telangiectasia was 0.3 per 10,000 persons. The reported prevalence rose with age from ~0.1 per 10,000 at ages <30 years to 1.0-1.1 per 10,000 at ages 70 years and above. The condition codes that were most specific to presumed hereditary hemorrhagic telangiectasia were lung arteriovenous malformations and upper gastrointestinal angiodysplasia. Combinations of those codes and codes for brain arteriovenous malformation and epistaxis were highly predictive of reporting of hereditary hemorrhagic telangiectasia, with 20-57% of enrollees with those codes also meeting the study definition for hereditary hemorrhagic telangiectasia.Conclusion:Hereditary hemorrhagic telangiectasia is underrecognized in US administrative data. Administrative health data can be used to identify individuals with combinations of signs that are suggestive of hereditary hemorrhagic telangiectasia. Studies are needed to test the hypothesis that referral for evaluation of individuals with administrative records suggestive of undiagnosed hereditary hemorrhagic telangiectasia could lead to diagnosis and access to life-saving treatments for both them and affected family members.Genet Med advance online publication 23 May 2013Genetics in Medicine (2013); doi:10.1038/gim.2013.66.
Genetics in medicine: official journal of the American College of Medical Genetics 05/2013; · 3.92 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Elevated body iron stores are associated with morbidity and mortality due to oxidative stress. Hereditary hemochromatosis, a common condition caused by HFE gene mutations, can lead to excess iron storage and disease but clinical penetrance of HFE gene mutations is low and many people with elevated iron stores lack HFE mutations. We analyzed data from the Hemochromatosis and Iron Overload Screening (HEIRS) Study to assess the relationship between HFE genotype (individuals with either homozygous or compound heterozygous status for C282Y and/or H63D HFE mutations were defined as genotype positive, or G+), elevated iron phenotype (individuals exceeding gender-specific transferrin saturation and serum ferritin threshold levels were considered phenotype positive, or P+), and leukocyte telomere length, a marker of biological aging and cumulative oxidative stress. In unadjusted analyses in comparison to individuals who were G-P-, G+P- were not significantly different (OR 0.74; 95% CI 0.26-2.04), while the G+P+ (OR 2.03; 95% CI 1.15-3.56), and G-P+ (OR 2.24; 95% CI 1.5-3.29) had increased risk of short telomeres (<=25(th) percentile) rather than long telomeres (>=75(th) percentile). In analyses adjusting for age, gender and race/ethnicity, the effect of individuals with elevated iron phenotypes having short telomeres persisted with G+P+ individuals (OR 1.94; 95% CI 1.02-3.72), and G-P+ individuals (OR 2.17; 95% CI 1.39-3.39) being significantly different from the G-P- group. In conclusion, elevated iron phenotype, but not HFE genotype, was associated with shortened telomeres. Further studies will be needed to determine if telomere length provides a marker for morbidities specifically associated with iron overload. Am. J. Hematol., 2013. © 2013 Wiley Periodicals, Inc.
American Journal of Hematology 03/2013; · 4.67 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: OBJECTIVES: To evaluate in a large, nationally representative cohort the association between high serum transferrin saturation (TS) and hospital length of stay and mortality in older adults. DESIGN: Prospective cohort. SETTING: Longitudinal analyses of the Third National Health and Nutrition Examination Survey linked to Medicare claims from 1991 through 2006. PARTICIPANTS: Medicare beneficiaries aged 65 and older at baseline. MEASUREMENTS: Transferrin saturation collected on each participant at baseline was characterized as <20.0%, 20.0% to 54.9%, and 55.0% and greater. Length of stay in the hospital and death in the hospital were primary outcomes. Analyses were adjusted for age, sex, race and ethnicity, education, and severity of illness. RESULTS: Individuals hospitalized during the study period (79.4%) with high (odds ratio (OR) = 2.54, 95% confidence interval (CI) = 1.05-6.12) or low (OR = 1.31, 95% CI = 1.07-1.62) TS had a significantly greater risk of death than those with moderate TS. Individuals with high TS had longer average length of stay per hospitalization (11.1 days, (standard error, SE 1.7 days), P = .01) than those with moderate TS (8.4 (0.3) days). Individuals with high TS also had more hospital days per year (8.6 (2.0) days, P = .04) than those with moderate TS (6.7 (0.5) days). CONCLUSION: High TS is associated with longer length of stay and death in the hospital (unweighted N = 3,847, weighted N = 28,395,464).
Journal of the American Geriatrics Society 12/2012; · 3.74 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: To better understand the current evaluation of unexplained menorrhagia by obstetrician-gynecologists and the extent to which a bleeding disorder diagnosis is being considered in this population.
A total of 1200 Fellows and Junior Fellows of the American College of Obstetricians and Gynecologists were invited to participate in a survey on blood disorders. Respondents completed a questionnaire regarding their patient population and their evaluation of patients with unexplained menorrhagia.
The overall response rate was 42.4%. Eighty-two percent of respondents reported having seen patients with menorrhagia caused by a bleeding disorder. Seventy-seven percent of physicians reported they would be likely or very likely to consider a bleeding disorder as causing menorrhagia in adolescent patients; however, only 38.8% would consider bleeding disorders in reproductive age women.
The current data demonstrate that obstetrician-gynecologists seem to have a relatively high awareness of bleeding disorders as a potential underlying cause of menorrhagia.
American journal of obstetrics and gynecology 07/2012; 207(4):269.e1-5. · 3.28 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Hereditary hemochromatosis (HH) is a common genetic disease in the United States, but little is known about the diagnosis from the patient's perspective. The purpose of this study was to characterize the circumstances surrounding the diagnosis of HH and assess treatments and health information needs.
We surveyed US adults aged 18 years and older who were diagnosed with HH after 1996. Response rate was 46%, with a total sample size of 979. Respondents were asked about the use of genetic and clinical markers in their diagnosis, current treatments, and health information needs.
Results were stratified by age, education, and income status. Total of 90.0% of women and 75.5% of men were genetically tested for HH (P < .01). Approximately half (52.5%) were diagnosed by a gastroenterologist, hematologist, or other specialty physician and half were diagnosed by a primary care provider. Most of the respondents thought their HH had improved with the initial treatment and most patients were still receiving treatment for HH. Patient interest in learning more about specific hemochromatosis topics was generally high.
Since the introduction of genetic identification of HH, these tests have been used in the diagnosis of the majority of patients. Primary care physicians may need to be more aware HH and strategies for diagnosis.
The Journal of the American Board of Family Medicine 07/2012; 25(4):432-6. · 2.05 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Pregnant women are four to five times more likely than nonpregnant women to develop venous thromboembolism (VTE). The aim of this review is to provide an overview of guidelines in the literature on VTE risk assessment, screening for thrombophilias, and thromboprophylaxis dissemination among pregnant women.
We performed a review of the published literature to identify evidence-based guidelines published between the years 2000 and 2011. We searched for guidelines from U.S. and international organizations that identified clinically based practice recommendations to healthcare providers on how VTE risk should be assessed, thrombophilias screened, and thromboprophylaxis disseminated among pregnant women.
We found nine guidelines that met our requirements for assessing VTE risk and found seven guidelines addressing thrombophilia screening. Seven of the nine agreed that all women should undergo a risk factor assessment for VTE either in early pregnancy or in the preconception period. Seven of the nine agreed that pregnant women with more than one additional VTE risk factor be considered for thromboprophylaxis, and five of the seven groups addressing thrombophilia screening agreed that selected at-risk populations should be considered for thrombophilia screening.
There is some agreement between U.S. and international guidelines that women should be assessed for VTE risk during preconception and again in pregnancy. Although there is agreement that the general population of women should not be screened for thrombophilias, no agreement exists as to the clinical subgroups for which screening should be done.
Journal of Women s Health 05/2012; 21(6):611-5. · 1.57 Impact Factor
-
Archives of internal medicine 04/2012; 172(12):960-1. · 11.46 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Iron overload cardiomyopathy is becoming more prevalent, and early recognition and intervention may alter outcomes. Calcium channels are key transporters of iron under iron-overloaded conditions, and potentially represent a new therapeutic target for iron overload. The purpose of this study was to examine the relationship between Calcium channel blocker (CCB) use and serum ferritin among adults with diagnosed hypertension. We analyzed the nationally representative NHANES (National Health and Nutrition Examination Survey) 1999-2002 for adults ≥40 years with diagnosed hypertension. The association between CCBs and serum ferritin was assessed using a t-test and adjusted multiple regressions.The study population included 2143 individuals (representing 37.4 million individuals, 42.0 % males). 12.6 % of the population reported taking CCBs in the last month. Individuals taking CCBs had lower mean serum ferritin (129.3 ng/mL versus 154.5 ng/mL, p = 0.02). After adjusting for age, sex, menopause and hysterectomy status for women, race/ethnicity, and C-reactive protein, mean serum ferritin for individuals taking CCBs was 26.3 ng/mL lower than for those not taking CCBs (p = 0.01). In an adjusted regression, individuals who took CCBs and had a daily vitamin C intake of ≥500 mg had a mean serum ferritin that was 60.1 ng/mL lower than people not taking CCBs and with daily vitamin C < 500 mg (p < 0.001). In conclusion, this study found an association between use of CCBs and lower serum ferritin levels in individuals with hypertension. Further studies are needed to assess the possible use of CCBs as non-traditional chelating agents for treatment of iron overload cardiomyopathy.
Biology of Metals 03/2012; 25(3):563-8. · 3.17 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Deep vein thrombosis and pulmonary embolism (PE) are responsible for substantial mortality, morbidity, and impaired health-related quality of life. The aim of this study was to evaluate the correlates of in-hospital deaths among hospitalizations with a diagnosis of PE in the United States.
By using data from the 2001-2008 National Hospital Discharge Survey, we assessed the correlates of in-hospital deaths among 14,721 hospitalizations with a diagnosis of PE and among subgroups stratified by age, sex, race, days of hospital stay, type of admission, cancer, pneumonia, and fractures. We produced adjusted rate ratios (aRR) and 95% confidence intervals using log-linear multivariate regression models.
Regardless of the listing position of diagnostic codes, we observed an increased likelihood of in-hospital death in subgroups of hospitalizations with ages 50 years and older (aRR = 1.82-8.48), less than 7 days of hospital stay (aRR = 1.43-1.57), cancer (aRR = 2.10-2.28), pneumonia (aRR = 1.79-2.20), or fractures (aRR = 2.18) (except for first-listed PE), when compared to the reference groups with ages 1-49 years, 7 days or more of hospital stay, without cancer, pneumonia, or fractures while adjusting for covariates. In addition, we observed an increased likelihood of in-hospital death for first-listed PE in hospitalizations of women, when compared to those of men (aRR = 1.45).
The results of this study provide support for identifying, developing, and implementing effective, evidence-based clinical assessment and management strategies to reduce PE-related morbidity and mortality among hospitalized PE patients who may have concurrent health conditions including cancer, pneumonia, and fractures.
PLoS ONE 01/2012; 7(7):e34048. · 4.09 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Sickle cell disease (SCD) is a collection of inherited blood disorders that affect a substantial number of people in the U.S., particularly African Americans. People with SCD have an abnormal type of hemoglobin, Hb S, which polymerizes when deoxygenated, causing the red blood cells to become misshapen and rigid. Individuals with SCD are at higher risk of morbidity and mortality from infections, vaso-occlusive pain crises, acute chest syndrome, and other complications. Addressing the public health needs related to SCD is an important step toward improving outcomes and maintaining health for those affected by the disorder. The objective of this study was to review public health activities focusing on SCD and define the need to address it more comprehensively from a public health perspective. We found that there has been some progress in the development of SCD-related public health activities. Such activities include establishing newborn screening (NBS) for SCD with all states currently having universal NBS programs. However, additional areas needing focus include strengthening surveillance and monitoring of disease occurrence and health outcomes, enhancing adherence to health maintenance guidelines, increasing knowledge and awareness among those affected, and improving healthcare access and utilization. These and other activities discussed in this paper can help strengthen public health efforts to address SCD.
American journal of preventive medicine 12/2011; 41(6 Suppl 4):S376-83. · 4.24 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Hereditary hemochromatosis type 1, also known as hereditary hemochromatosis classical (HHC), is an iron overload disorder associated, in most cases, with mutations of the hemochromatosis (HFE) gene. Although suggested algorithms for diagnosing iron overload are available, there are still questions about options for genetic and biochemical screening for hemochromatosis and duration of treatment. This article provides a summary of an expert workgroup meeting convened on September 24-25, 2009, entitled "Iron Overload: What is the Role of Public Health?" The purpose of the meeting was to enable subject matter experts to share their most recent clinical and scientific iron overload information and to facilitate the discussion of future endeavors, with special emphasis on the role of public health in this field. The two main topics were the research priorities of the field, including clinical, genetic, and public health issues, and the concerns about the validity of current screening recommendations for the condition.
American journal of preventive medicine 12/2011; 41(6 Suppl 4):S422-7. · 4.24 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Deep vein thrombosis (DVT) and pulmonary embolism (PE), collectively known as venous thromboembolism (VTE), are an important and growing public health issue, associated with considerable morbidity and mortality. Presently, there is no national surveillance for DVT and PE. This article provides a summary of an expert workgroup meeting convened January 12, 2010, by the CDC. The purpose of the meeting was to inform CDC on the development of U.S. population-based public health surveillance activities for DVT/PE. Topics discussed included: (1) stakeholders, needs, gaps, and target populations; (2) requirements of surveillance systems; (3) challenges, limitations, and potential barriers to implementation of surveillance activities; and (4) integration of research and education with surveillance activities.
American journal of preventive medicine 12/2011; 41(6 Suppl 4):S428-34. · 4.24 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Although the issue of whether sickle cell trait (SCT) is clinically benign or a significant health concern has not yet been resolved, the potential health risk to affected individuals is of vital importance and represents a tremendous challenge in protecting, promoting, and improving the health of the approximately 300 million people worldwide and 3 million people in the U.S. who possess the trait. In response to a request by the Sickle Cell Disease Association of America, in December 2009, the CDC convened a meeting of partners, stakeholders, and experts to identify the gaps in public health, clinical health services, epidemiologic research, and community-based outreach strategies and to develop an agenda for future initiatives. Through facilitated discussion and presentations in four topic areas, participants discussed pertinent issues, synthesized clinical research findings, and developed a coherent framework for establishing an agenda for future initiatives. A primary outcome of the meeting was to provide the first step of an iterative process to move toward agreement regarding appropriate counseling, care, and, potentially, treatment of people with SCT.
American journal of preventive medicine 12/2011; 41(6 Suppl 4):S435-9. · 4.24 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Iron overload is associated with significant morbidity and mortality yet is easily treated. The objective of this study was to create a tool that could be easily adapted to clinical practice that indicates the likelihood of a patient having undetected iron overload. We used the National Health and Nutrition Examination Survey (NHANES) 1999-2002 for US adults aged 20 years and older to build a model (unweighted n=8,779). We chose potential variables for inclusion that could be gathered by self-report or measured without laboratory data and were suggested by past literature on hemochromatosis and iron overload. We computed logistic regressions to create the scores by initially evaluating the variables' relationship with elevated ferritin and elevated transferrin saturation and then using odds ratios to correspond to scores. The resulting score on the IRon Overload ScreeNing Tool (IRON) was then validated with data on 13,844 adults in the NHANES III, 1988-94. Predictors in the final tool were age, gender, previous diagnoses of liver condition, osteoporosis or thyroid disease. The IRON score yielded an area under the curve (AUC) in the NHANES 1999-02 of 0.720 and an AUC of 0.685 in the NHANES III validation sample. The IRON score is a tool to assist in identification of patients with iron overload that has several qualities that make it attractive for use in clinical practice with an undifferentiated patient population including brevity, easily collected information and predictive ability comparable to other tools that help in directing screening.
American Journal of Hematology 09/2011; 86(9):733-7. · 4.67 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: When compared with Whites, Black-Americans may have a 40% higher incidence venous thromboembolism (VTE) incidence. However, whether other VTE characteristics and risk factors vary by race is uncertain. To compare demographic and baseline characteristics among White- and Black-Americans with VTE, we used data prospectively collected from consecutive consenting adults enrolled in seven Centers for Disease Control (CDC) Thrombosis and Hemostasis Centers from August 2003 to March 2009. These characteristics were compared among Whites (n = 2002) and Blacks (n = 395) with objectively diagnosed VTE, both overall, and by age and gender. When compared with Whites, Blacks had a significantly higher proportion with pulmonary embolism (PE), including idiopathic PE among Black women, and a significantly higher proportion of Blacks were women. Blacks had a significantly higher mean BMI and a significantly lower proportion with recent surgery, trauma or infection, family history of VTE, and documented thrombophilia (solely from reduced factor V Leiden and prothrombin G20210A prevalence). Conversely, Blacks had a significantly higher proportion with hypertension, diabetes mellitus, chronic renal disease and dialysis, HIV, and sickle cell disease. When compared with White women, Black women had a significantly lower proportion with recent oral contraceptive use or hormone therapy. We conclude that Whites and Blacks differ significantly regarding demographic and baseline characteristics that may be risk factors for VTE. The prevalence of transient VTE risk factors and idiopathic VTE among Blacks appears to be lower and higher, respectively, suggesting that heritability may be important in the etiology of VTE among Black-Americans.
American Journal of Hematology 07/2010; 85(7):467-71. · 4.67 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Bleeding and clotting in women is an issue that directly affects the life of every woman, child, and family worldwide. This article summarizes recent activities undertaken by the Division of Blood Disorders (DBD) at the Centers for Disease Control and Prevention (CDC) to identify risk factors through evidence-based research and surveillance to prevent complications of blood disorders in women. Specific focus is given to our efforts to improve early identification and diagnosis of blood disorders among women, improve our understanding of maternal and infant outcomes, and develop surveillance systems to monitor the prevalence and incidence of these events.
Journal of Women s Health 07/2010; 19(7):1231-4. · 1.57 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Technologic advances in diagnostic testing, vaccinations, pathogen inactivation, and vigilant donor screening have greatly reduced the risk of transmitting pathogens through blood transfusion. Nevertheless, transfusion-related infections and fatalities continue to be reported, and emerging pathogens continue to become an increasing threat to the blood supply. This threat is even greater to patients with blood disorders, who are heavily transfused and rely on safe blood products. This article describes some of the emerging and re-emerging transfusion-transmitted pathogens that have increased in incidence in the U.S. in recent years. Peer-reviewed articles and agency websites were the sources of information. The article focuses on the treatment of hereditary blood disorders including hemophilia and thalassemia, and hereditary bone marrow failure. A coordinated approach to addressing blood safety and continued development of sensitive diagnostic testing are necessary to reduce risk in an increasingly globalized society.
American journal of preventive medicine 04/2010; 38(4 Suppl):S468-74. · 4.24 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Patients with sickle cell disease (SCD) often use emergency department services to obtain medical care. Limited information is available about emergency department use among patients with SCD.
This study assessed characteristics of emergency department visits made nationally by patients with SCD.
Data from the National Hospital Ambulatory Medical Care Survey (NHAMCS) for the years 1999-2007 were analyzed. The NHAMCS is a survey of hospital emergency department and outpatient visits. Emergency department visits by patients with SCD were identified using ICD-9-CM codes, and nationally weighted estimates were calculated.
On average, approximately 197,333 emergency department visits were estimated to have occurred each year between 1999 and 2007 with SCD as one of the diagnoses listed. The expected source of payment was private insurance for 14%, Medicaid/State Children's Health Insurance Program for 58%, Medicare for 14%, and other/unknown for 15%. Approximately 29% of visits resulted in hospital admission; this was 37% among patients aged 0-19 years, and 26% among patients aged >/=20 years. The episode of care was indicated as a follow-up visit for 23% of the visits. Patient-cited reasons for the emergency department visit included chest pain (11%); other pain or unspecified pain (67%); fever/infection (6%); and shortness of breath/breathing problem/cough (5%), among other reasons.
Substantial numbers of emergency department visits occur among people with SCD. The most common reason for the emergency department visits is pain symptoms. The findings of this study can help to improve health services delivery and utilization among patients with SCD.
American journal of preventive medicine 04/2010; 38(4 Suppl):S536-41. · 4.24 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Gestational diabetes is a major public health problem because of its prevalence, its associated complications during pregnancy, and its increased risk for type 2 diabetes later in life. Insulin resistance is one of many physiological changes occurring during pregnancy, and when insulin resistance is accompanied by pancreatic beta-cell insufficiency, gestational diabetes may develop. Several lines of evidence suggest that gestational diabetes shares a common etiology with type 2 diabetes and support the hypothesis that gestational diabetes serves as a window to reveal a predisposition to type 2 diabetes. Pregnancy is an environmental stressor that may catalyze the progression to a diabetic state in genetically predisposed women; therefore, identification of these women during pregnancy could decrease the occurrence of type 2 diabetes through targeted prevention. This review presents an overview of the genetics of gestational diabetes, focusing on human association studies with candidate genes common to both type 2 diabetes and gestational diabetes.
Genetics in medicine: official journal of the American College of Medical Genetics 05/2008; 10(4):240-50. · 3.92 Impact Factor
-
Arteriosclerosis Thrombosis and Vascular Biology 04/2008; 28(3):394-5. · 6.37 Impact Factor
