scholarly journals Point-of-care ultrasonography (POCUS) in hemophilia A: a commentary on current status and its potential role for improving prophylaxis management in severe hemophilia A

2017 ◽  
Vol 8 (4) ◽  
pp. 153-156 ◽  
Author(s):  
Suchitra S. Acharya ◽  
Brittny Rule ◽  
Omar McMillan ◽  
Thomas J. Humphries
Keyword(s):  
Hemophilia A ◽  
Point Of Care ◽  
Scoring Systems ◽  
Current Status ◽  
Recurrent Bleeding ◽  
Severe Hemophilia ◽  
Transitional Age ◽  
Point Of Care Ultrasonography ◽  
User Friendly

In patients with severe hemophilia A, recurrent bleeding into joints results in increased morbidity and reduced quality of life. Prophylaxis using replacement factor products, especially when initiated early, has established benefits in terms of reducing joint bleeds and preserving joint function. Poor adherence to prophylactic regimens is a common cause for breakthrough bleeds and resultant arthropathy. Improving prophylaxis management, especially in the transitional age group, is a challenge. Here, we discuss the current status of ultrasonography (US) in hemophilia A, challenges in its wider implementation, and the potential for use of point-of-care US (POCUS) as an adjunct in the routine management of patients with hemophilia following prophylaxis regimens. Using POCUS, in which US is performed by trained hematologists and nonphysician operators (rather than comprehensive US performed by imaging specialists), specific clinical questions can be addressed in a time-efficient, user-friendly manner to promote adherence to prophylaxis and guide or modify treatment approaches. This review also discusses barriers to acceptance of POCUS as a part of routine management of patients with hemophilia, including questions related to its diagnostic accuracy, dependence on trained operators, agreement on appropriate scoring systems, and potential usefulness in patient management.

Approach to the Patient with Abdominal Pain

2020 ◽  
Author(s):  
Dana Sajed
Keyword(s):  
Computed Tomography ◽  
Abdominal Pain ◽  
Chronic Conditions ◽  
Acute Abdominal Pain ◽  
Point Of Care ◽  
Abdominal Ultrasonography ◽  
Pediatric Populations ◽  
Ed Visits ◽  
Point Of Care Ultrasonography

Abdominal pain is the most common presenting complaint in the emergency department (ED), accounting for nearly 8% of ED visits. Although many chronic conditions may cause pain in the abdomen, acute abdominal pain, defined as undiagnosed pain present for less than 1 week, is of greatest concern to the emergency practitioner. For many reasons, acute abdominal pain is often diagnostically challenging. Abdominal pain may be due to numerous causes, including gastrointestinal, genitourinary, cardiovascular, pulmonary, and other sources. Symptoms may fluctuate or change in nature, and the quality of pain can be difficult for the patient to describe. Physical examination findings, although important, are variable and can even be misleading. Despite being such a common presenting complaint, misdiagnosis is not uncommon and results in a high percentage of medicolegal actions in both and adult and pediatric populations. This review contains 5 figures, 8 tables, and 92 references Key words: abdominal computed tomography, abdominal pain, abdominal ultrasonography, pain management, point-of-care ultrasonography

scholarly journals Impact of Systematic Pharmacokinetic (PK) Profiles in a Cohort of 29 Patients Treated with Conventional and Extended-Half Life (EHL) Products

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 1123-1123
Author(s):  
Teresa Ceglie ◽  
Berardino Pollio ◽  
Irene Ricca ◽  
Maria Messina ◽  
Claudia Linari ◽  
...  
Keyword(s):  
Hemophilia A ◽  
Factor Ix ◽  
Hemophilia B ◽  
Null Mutation ◽  
Severe Hemophilia ◽  
Factor Level ◽  
On Demand ◽  
Active Life ◽  
Genetic Assessment

Introduction. Prophylaxis with factor concentrates reduces bleeding events and improves quality of life for adults and children with severe hemophilia. However, the optimal dosing and infusion frequency is not yet established. Integration of PK data into decision making is gaining support, in particular at the transition between conventional and EHL products. Here we report about 29 PK data of patients affected by hemophilia treated at our centre since childhood. Improved quality of life was our first aim, supposed that decreasing frequency of infusions or increasing the target through factor level allows a more active life without increased risk of bleeding. Patients' characteristics and methods. 18 patients (62%) were ≤ 18 years of age at PK time. 16 were affected by severe hemophilia A, 5 by moderate hemophilia A, 6 by severe hemophilia B and 2 by moderate hemophilia B. At PK time, 28 patients were on prophylaxis and 1 was on demand with recombinant factor IX. Median age at onset of prophylaxis was 9 years (range 3 months-38 years). Genetic assessment was available in 24 patients. Of these, 37.5% and 62.5% were carriers of null and not null mutations respectively. 4 patients were undergone to PK with standard products (1 Octocog alfa, 1 Simoctocog alfa, 1 Octocog alfa-Kovaltry®, 1 Turoctocog alfa) in order to define timing and dosage of successive infusions, while 25 patients switched to EHL factors (15 Efmoroctocog alfa, 2 Ionoctocog alfa, 7 Albutrepenonacog alfa, 1 Eftrenonacog alfa). In 15 patients a population-based PK (popPK) according to WAPPS-Hemo program was also performed. The annualized bleeding rate (ABR) was counted from patient's home bleeding records for one year before PK until now. Results. According to PK data, 21 patients (75%) decreased infusion frequency (100% hemophilia B and 67% hemophilia A patients). The remaining 7 hemophilia A patients maintained the same timing in order to increase the through factor level. Notably, 1 hemophilia B patient switched from on demand treatment to prophylaxis with EHL product due to the more acceptable schedule. 66% of null mutation patients and 73% of not null mutation patients decreased timing. Of 28 patients available at follow-up, 32%, 50% and 18% decreased, increased and maintained the same annual average factor consumption/kg, respectively. All patients had a good adherence after switch. In particular, the on demand patient started a regular prophylaxis with optimal compliance. ABR displayed a reduction with a median of 0 (range 0-5) after PK analysis compared to 1 (range 0-12) before the switch. Full PK vs popPK data obtained using at least two individual PK sampling points were almost similar. Conclusions. Our results remark the necessity of PK study especially in children due to the inter-individual variability independent of genetic assessment. Regarding factor IX, PK allowed us to propose timing even longer than that recommended by prescribing indications resulting in a better personalized prophylaxis. Moreover, our study demonstrates that a full PK analysis is feasible also in children. However, given similar results, popPK could be more feasible in most patients. Regarding consumption, the reduction of only 32% of patients reflects our aim to maintain a high safety profile in an active pediatric population. Nevertheless, the mean annualized consumption was just 0.6-fold increased in the remaining patients. This approach led us to further reduce ABR and in some cases to obtain a persistent no-bleeding status even with a full active life. Disclosures No relevant conflicts of interest to declare.

scholarly journals POCUS for Nephrologists - Basic Principles and a General Approach

Kidney360 ◽  
2021 ◽  
pp. 10.34067/KID.0002482021
Author(s):  
Abhilash Koratala ◽  
Nathaniel Reisinger
Keyword(s):  
Physical Examination ◽  
Point Of Care ◽  
Basic Principles ◽  
Medical Specialties ◽  
Case Examples ◽  
Fluid Status ◽  
Valuable Adjunct ◽  
Point Of Care Ultrasonography ◽  
Fragmentation Of Care

Point of care ultrasonography (POCUS) has evolved as a valuable adjunct to physical examination in the recent past and various medical specialties have embraced it. However, POCUS training and scope of practice remain relatively undefined in nephrology. The utility of diagnostic POCUS beyond kidney and vascular access is under-recognized. Assessment of fluid status is a frequent dilemma faced by nephrologists in day-to-day practice where multi-organ POCUS can enhance the sensitivity of conventional physical examination. POCUS also reduces fragmentation of care, facilitates timely diagnosis, and expedites management. While the need for further imaging studies is obviated in selected cases, POCUS is not meant to serve as an alternative to consultative imaging. In addition, utility of POCUS depends on the skills and experience of the operator, which in turn depends on the quality of training. In this review, we discuss the rationale behind nephrologists performing POCUS, discuss case examples to illustrate the basic principles of focused ultrasonography, and share our experience-based opinion about developing a POCUS training program at the institutional level.

scholarly journals Problem Joints and Their Clinical and Humanistic Burden in Children and Adults with Moderate and Severe Hemophilia a: CHESS Paediatrics and CHESS II

Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 33-34
Author(s):  
Paul McLaughlin ◽  
Cedric Hermans ◽  
Sohaib Asghar ◽  
Tom Burke ◽  
Francis Nissen ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Research Funding ◽  
Hemophilia A ◽  
Joint Damage ◽  
Severe Hemophilia ◽  
Publicly Traded ◽  
Hemophilic Arthropathy ◽  
Joint Health ◽  
Humanistic Burden

Introduction Severe hemophilia A (SHA) is characterized by spontaneous (non-trauma related) bleeding episodes into the joint space and muscle tissue, leading to progressive joint deterioration and chronic pain. Chronic joint damage is most often associated with severe hemophilia, however more recent research has illustrated that people with moderate hemophilia A (MHA) also experience hemophilic arthropathy and functional impairment. The need to measure joint health in children as well as adults, is underscored by findings from the Joint Outcome Continuation Study, which found that FVIII prophylaxis was insufficient to protect joints from damage, from childhood through adolescence in severe HA (Warren et al., 2020). The objective of this analysis is to gain a more patient-centric understanding of the clinical, economic and humanistic burden associated with 'Problem Joints', a measure of joint morbidity developed in consultation with an expert panel to overcome limitations with existing measures, in people with MHA and SHA. Methods A descriptive cohort analysis was conducted, utilizing retrospective, cross-sectional real-world data from the 'Cost of Haemophilia in Europe: a Socioeconomic Survey' (CHESS Paeds and CHESS II), studies of adult and pediatric persons with hemophilia. The analysis population is comprised of children (17 and below) with MHA or SHA in CHESS Paeds, and adults aged 20 and over with MHA or SHA in CHESS II. To account for the possibility that persons aged 18 or 19 in CHESS II may have participated in CHESS Paeds, these individuals were excluded from the analysis. Physician-reported clinical outcome data and patient/caregiver-reported quality of life were analyzed. A problem joint (PJ) is defined as having chronic joint pain and/or limited range of movement due to compromised joint integrity (i.e. chronic synovitis and/or hemophilic arthropathy). Analyses were stratified by number of PJs: none, 1 PJ, and 2+ PJs. We report retrospective data of the 12 months prior to study enrollment, on annualized bleeding rate (ABR), prevalence of target joints (TJ), as defined by the International Society on Thrombosis and Haemostasis, and EQ-5D-/5L/Y/Proxy score. Results are presented as mean (standard deviation) or N (%). Results Among 785 participants (N = 464 SHA; N = 321 MHA) in CHESS Paeds, mean age and BMI were 10.33 (4.63) and 22.50 (17.07), respectively. Of 493 participants (aged 20 and above) in CHESS II (N = 298 SHA; N = 195 MHA), the mean age and BMI were 38.61 (14.06) and 24.55 (2.92), respectively. Current inhibitor to FVIII replacement was more prevalent in children than in adults (10% vs. 5%). In CHESS II, approximately 40% of people with MHA and 49% with SHA had one or more PJs, respectively [1 PJ (23% vs. 28%); 2+ PJs (16% vs. 21%)]. In CHESS Paeds, approximately 14% of children with MHA and 18% with SHA had at least one PJ, respectively [1 PJ (9% vs. 14%); 2+ PJs (5% vs. 3%)]. TJs were less prevalent with MHA in comparison to SHA, in both adults (24% vs. 45%) and children (13% vs. 22%). Clinical burden was higher among both children and adults with PJs compared to those with no PJs. ABR correlates with the number of PJs, in those with MHA and SHA in CHESS II (Figure 1). Similarly, PJs were associated with higher ABR across MHA and SHA in CHESS Paeds (Figure 2). Hemophilia-related hospitalizations were higher in both adult and pediatric participants with PJs. In CHESS II, MHA with no PJs had fewer [0.73 (1.23)] hospitalizations compared to having those with 1 PJ [1.38 (1.11)] or 2+ PJs [1.28 (1.25)]. Similarly, children with MHA with 2+ PJs had 1.60 (1.92) hemophilia-related hospitalizations, compared to 1.38 (1.92) with 1 PJ and 0.71 (1.14) with no PJs. PJs were associated with impaired quality of life. In CHESS II, MHA and SHA EQ-5D-5L values in persons with no PJs were 0.81 (0.19) and 0.79 (0.18), respectively, compared to 0.65 (0.16) and 0.62 (0.23) with 1 PJ, and 0.65 (0.14) and 0.51 (0.33) in with 2+ PJs. A similar trend was observed in EQ-5D-Y and EQ-5D-proxy scores in CHESS Paeds. Conclusions Data from CHESS Paeds and CHESS II demonstrate an association between chronic joint damage, as measured by the 'problem joint' definition, and worsening clinical and quality of life outcomes, across both MHA and SHA. Further analyses will seek to expand upon the initial results presented here, to investigate the wider elements of burden associated with compromised long-term joint health. Disclosures McLaughlin: BioMarin: Consultancy; Novo Nordisk: Consultancy, Speakers Bureau; Sobi: Consultancy, Speakers Bureau; Roche/Chugai: Speakers Bureau; Takeda: Speakers Bureau. Hermans:Novo Nordisk: Consultancy, Speakers Bureau; Roche: Consultancy, Speakers Bureau; Sobi: Consultancy, Research Funding, Speakers Bureau; Biogen: Consultancy, Speakers Bureau; CAF-DCF: Consultancy, Speakers Bureau; CSL Behring: Consultancy, Speakers Bureau; Shire, a Takeda company: Consultancy, Research Funding, Speakers Bureau; Pfizer: Consultancy, Research Funding, Speakers Bureau; Bayer: Consultancy, Research Funding, Speakers Bureau; WFH: Other; EAHAD: Other; Octapharma: Consultancy, Speakers Bureau; Kedrion: Speakers Bureau; LFB: Consultancy, Speakers Bureau. Asghar:HCD Economics: Current Employment. Burke:HCD Economics: Current Employment; University of Chester: Current Employment; F. Hoffmann-La Roche Ltd: Consultancy. Nissen:GSK: Research Funding; Novartis: Research Funding; Actelion: Consultancy; F. Hoffmann-La Roche Ltd: Current Employment. Aizenas:F. Hoffmann-La Roche Ltd: Current Employment, Current equity holder in publicly-traded company. Meier:F. Hoffmann-La Roche Ltd: Current Employment, Current equity holder in publicly-traded company. Dhillon:HCD Economics: Current Employment; F. Hoffmann-La Roche Ltd: Other: All authors received editorial support for this abstract, furnished by Scott Battle, funded by F. Hoffmann-La Roche Ltd, Basel, Switzerland. . O'Hara:F. Hoffmann-La Roche Ltd: Consultancy; HCD Economics: Current Employment, Current equity holder in private company.

Factor VIII Intron 22 Inversion Screening of Newborn Males for Hemophilia A: A Cost-Effectiveness Study

Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 734-734
Author(s):  
John W. Luiza ◽  
Margaret V. Ragni ◽  
Robert F. Sidonio ◽  
Kenneth J Smith
Keyword(s):  
Quality Of Life ◽  
Cost Effectiveness ◽  
Factor Viii ◽  
Hemophilia A ◽  
Severe Hemophilia ◽  
Pcr Screening ◽  
Intron 22 Inversion ◽  
Screening Cost ◽  
The Cost

Abstract Abstract 734 Background: Severe hemophilia A is an X-linked congenital bleeding disorder occurring in 1:5,000 male births. Among neonates with severe hemophilia A, failure to recognize hemophilia and associated bleeding may result in severe blood loss anemia from circumcision, central nervous system (CNS) bleeding during the birth process or with head trauma and associated neurologic sequelae, and unrecognized joint bleeding that, when recurrent, increases the risk of joint damage which may lead to chronic disability. In at least one-third of cases, the disease arises as a spontaneous mutation: yet, even among the two-thirds with a family history, most carriers do not undergo carrier testing or prenatal diagnosis, leaving only a minority in whom cord blood screening is performed. About half of newborns with severe hemophilia A have a factor VIII (F.VIII) intron 22 inversion mutation, readily detected by PCR screening. We, therefore, sought to determine the effects of newborn screening by F.VIII intron 22 inversion PCR on early diagnosis in children with severe hemophilia A, specifically, on prevention of early life bleeding and associated cost, morbidity, and quality of life. Methods: We constructed a decision tree model to evaluate the cost effectiveness of newborn F.VIII intron 22 screening for severe hemophilia A. We assumed all newborn males were tested as part of screening, and that treatment modifies the likelihood of bleeding but not bleeding associated morbidity. Rates of major and minor CNS, joint, and procedural/surgical bleeding, including circumcision, morbidity and mortality, cost, and quality of life utilities were obtained from the literature. We assumed the cost of intron 22 PCR testing to be $3.00 per newborn male, that test results were available within 2 days of screening, and that clotting factor was infused prior to procedures and at the first sign of joint bleeding or head trauma. The probability of severe bleeding requiring hospitalization or red blood cell transfusion was estimated to be 5% or less in children with severe hemophilia A. The cost of F.VIII concentrate was based on the average wholesale price, and transfusion and hospitalization costs were based on local data. Outcomes included medical costs for each bleeding event, effectiveness measured as quality-adjusted-life-years (QALY), and the incremental cost-effectiveness ratio (ICER) over the first two years of life. Sensitivity analysis was used to test the robustness of analysis results. Results: Compared to no screening, screening for hemophilia had an ICER of $96,918/QALY, a value considered economically reasonable. Results were sensitive to variation of screening cost and overall detection of hemophilia A by PCR screening (base case 50%). Effects of varying both these parameters in a two-way sensitivity analysis are shown in the Figure. Using a $100,000 per QALY cost-effectiveness criterion over the depicted ranges for both parameters, screening was favored if screening cost ≤$3 or if ≥56% of all newborns with hemophilia A were detected by screening. Conclusion: It is cost effective to perform factor VIII intron 22 PCR screening to identify severe hemophilia A in newborn males in order to prevent bleeding morbidity, if the cost of the test does not exceed $3.00. Disclosures: No relevant conflicts of interest to declare.

scholarly journals Health status and quality of life in patients with severe hemophilia A: A cross-sectional survey

2019 ◽  
Vol 11 (2) ◽  
Author(s):  
Majid Davari ◽  
Zahra Gharibnaseri ◽  
Roya Ravanbod ◽  
Abolfazl Sadeghi
Keyword(s):  
Quality Of Life ◽  
Hemophilia A ◽  
Clinical Information ◽  
Cross Sectional Study ◽  
Adult Patients ◽  
Severe Hemophilia ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
The Mean

Among different groups of hemophiliacs, those suffering from Severe Hemophilia A (SHA) are most vulnerable to the complications of the disease. This study investigated the Health-Related Quality of Life (HR-QoL) among adult patients with SHA. A cross-sectional study was designed to gather demographic and clinical information from adult patients with SHA. Patients with inhibitors were excluded. The remaining were asked to complete the HR-QoL questionnaire after being examined for joint health using the Hemophilia Joint HealthScore (HJHS). The HR-QoL and joint conditions were measured in 38 patients. The mean EQ-5D value scores were 0.46 (SD=0.23) while the mean Visual Analogous Scale score was 50 (SD=18.7). The clinical examination of patients indicated that the HJHS were as follows: eight patients had a score of 55-75, 12 patients had a score of 40-55, 7 of them (25-40) and 11 patients had a score of 10-25. The results obtained from this study showed that HR-QoL in hemophilia patients was considerably low. Pain, anxiety/depression, and motion limitations were the main causes of the disutility for these patients respectively.

scholarly journals Real-world evidence on Kovaltry (81-8973) in children with moderate or severe hemophilia A in Europe: a nested cohort analysis

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Jamie O’Hara ◽  
Ceri Hirst ◽  
Jose Francisco Cabre Marquez ◽  
Tom Burke
Keyword(s):  
Multivariate Analysis ◽  
Real World ◽  
Hemophilia A ◽  
Cohort Analysis ◽  
Utilization Rate ◽  
Recurrent Bleeding ◽  
Pharmacokinetic Data ◽  
Severe Hemophilia ◽  
Real World Evidence ◽  
Significant Difference

Abstract Background Untreated hemophilia A patients may experience recurrent bleeding events leading to debilitating joint damages. While RCT and pharmacokinetic data support the value of Kovaltry [an unmodified full-length recombinant factor VIII (FVIII) product], real world evidence in children is lacking. This report describes a descriptive and multivariate analysis of the effectiveness of Kovaltry in children with hemophilia A in the real-world setting, using data from medical chart abstraction and cross-sectional surveys of physicians, patients, and caregivers. Results Male patients aged < 18 years with moderate or severe hemophilia A, residing in five European countries and treated with FVIII were studied. The co-primary endpoints were the annualized bleeding rate (ABR) and the annual FVIII utilization rate. Twenty nine patients treated with Kovaltry were included, of whom 93% had severe disease and 75% were on continuous prophylactic treatment. The mean ABR was 2.66 ± 2.06, with rates decreasing with age. The children received on average 2.45 infusions per week, consistent across age groups (median 3; range 1–3). There were no reports of inhibitor development or adverse events in the study (AEs), and all patients were satisfied or very satisfied with the treatment. An exploratory multivariate analysis suggests no significant difference in ABR or units utilized between Kovaltry and some extended half life products in children with severe hemophilia A, though characteristics of these patient cohorts were markedly different. Conclusion This analysis demonstrates the effectiveness and safety of Kovaltry in a pan-European pediatric population with severe hemophilia A.

scholarly journals Effect of tertiary prophylaxis with low-dose factor VIII in quality of life in adult patients with severe hemophilia A

2019 ◽  
Vol 10 (3) ◽  
pp. 88
Author(s):  
PrakasKumar Mandal ◽  
Abhijit Phukan ◽  
Amrita Bhowmik ◽  
Debasis Gantait ◽  
Prantar Chakrabarti
Keyword(s):  
Quality Of Life ◽  
Factor Viii ◽  
Low Dose ◽  
Hemophilia A ◽  
Adult Patients ◽  
Severe Hemophilia ◽  
Dose Factor
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