Research Studies

Objective:

Age is a major risk factor for cardiovascular disease. Comprehensive care and the improved safety of factor replacement therapy and therapeutic approaches, such as prophylaxis, have increased life expectancy for people with hemophilia people with hemophilia (PwH).

PwH may acquire cardiovascular risk factors (such as diabetes, hypertension, hyperlipidemia, obesity and renal disease) as a consequence of advancing age, lifestyle and hemophilia- related conditions, yet little information is available on cardiovascular risk assessment among PWH.

The ADVANCE Working Group, an expert panel of European hemophilia centers supported by an educational grant from Bayer Healthcare, convened to raise awareness of age-related comorbidities among PwH. There are currently no evidence-based guidelines for antithrombotic management in PwH presenting with acute coronary syndrome (ACS). ADVANCE met to perform a review of the current European Society of Cardiology guidelines, and to consider how best they should be adapted for PWH.

Methods:

Structured communication techniques based on a Delphi-like methodology were used to achieve expert consensus on key aspects of clinical management.

Summary:

The main final statements are: a) ACS and myocardial revascularization should be managed promptly by a multidisciplinary team that includes a hemophilia expert; b) Each comprehensive care center for adult PwH should have a link to a cardiology centre with an emergency unit and 24 hour availability of PCI; c) PCI should be performed as soon as possible under adequate clotting factor protection; d) Bare metal stents are preferred to drug eluting stents; e) Anticoagulants should only be used in PwH after replacement therapy; f) Minimum trough levels should not fall below 5-15% in PwH on dual antiplatelet therapy; g) The duration of dual antiplatelet therapy after ACS and PCI should be limited to a minimum; h) PwH receiving antiplatelet therapy should be offered gastric protection; i) The use of GPIIb- IIIa inhibitors is not recommended in PwH other than in exceptional circumstances; j) The use of fibrinolysis may be justified in PwH when primary PCI (within 90 minutes) is not available ideally under adequate clotting factor management.

Conclusion:

It is hoped that the results of this initiative will help to guide optimal management of ACS in PwH.

The goal of Dr. Chen's research is to examine a method for selectively expanding hematopoietic stem cells expressing the factor VIII transgene. She will also examine the immune consequences of this approach, based on the idea that gene transfer in platelets evades immune recognition. This research has the potential to elicit important clues to developing an approach for gene therapy of hemophilia A and hemophilia A with inhibitors.

Dr. Chen earned a PhD in hematology from Fujian Medical University in China. She already has more than 27 papers published in the Chinese medical literature. Her research in hemophilia and gene therapy will be under the mentorship of Dr. Qizhen Shi, MD, PhD, Associate Investigator at the Blood Research Institute and Assistant Professor of Pediatric Hematology at the Medical College of Wisconsin.

Objective:

To assess subjective and objective outcomes of total joint arthroplasty (TJA) as a treatment for hemophilic arthropathy, and to assess the safety and efficacy of perioperative pharmacologic thromboprophylaxis as a means to prevent venous thromboembolism in this population.

Methods:

We performed a retrospective chart review to identify patients with congenital bleeding disorders who underwent TJA between 1987 and 2012. We collected data on range of motion (ROM) and pain before and after surgery and on early and late complications (bleeding, infection, thrombosis). Data are presented descriptively using median values and ranges where appropriate.

Summary:

We identified 38 procedures (29 knees (TKA) and 9 hips (THA) in 28 patients (26 male, 2 female) with hemophilia A (n = 21), hemophilia B (n = 4), factor 11 deficiency (n = 1) and von Willebrand disease (n = 2). Median age at operation was 42 years (range, 17 – 74) for TKA and 45 years (range, 18 – 71) for THA. Inhibitors were present in one patient with hemophilia A (1.5 B.U.) and one patient with factor 11 deficiency (0.5 B.U.). All patients were treated with hemostatic agents appropriate to their disorders for up to 4 to 6 weeks post- operatively. Complete data at 2 months post-operatively are available for 27 TKA patients, of whom, 7 (23%), demonstrated improvement in ROM (median 15 degrees, range 5 - 25). At 1.5 years post-operatively, 17/29 (59%) TKA patients showed improvement in ROM (median 15 degrees, range 4 - 58) and 100% reported decreased knee pain. All 9 THA patients demonstrated improved ROM at 2 months post-operatively. Eight (89%) demonstrated gains in internal rotation (median, 45 degrees, range 15 – 45), 9 (100%) in external rotation (median 30 degrees, range 15 – 45), 5 (56%) in flexion (median 35 degrees, range 27 – 55), 7 (78%) in extension (median 15 degrees, range 3 – 95), and 7 (78%) in abduction (median 15 degrees, range 10 – 25).

We were able to contact 22 of 28 study subjects (79%), accounting for 31 of 38 (82%) procedures. Patients who underwent 25 of the 29 TKAs (86%) and 6 of the 9 THAs (67%) agreed to provide answers to yes/no questions about their experience with TJA. 25 of 25 (100%) TKA subjects reported improvement in pain and stated that if given the opportunity to go back and revisit their decision, would make the same decision to have the surgery. 24 of 25 (96%) TKA subjects reported improvement in their joint function after the surgery. 6 of the 6 THA subjects we contacted stated that they experienced improvement in joint pain and function as a result of the surgery, and 5 of 6 (83%) stated that they would choose to have the surgery if they had to choose again.

Low molecular weight heparin was administered post-operatively in 29 of 38 procedures (76%). Thromboprophylaxis was discontinued in 3 patients for non-joint bleeding (one hematuria, two cases of hypotension and anemia). There were no symptomatic VTE. Early complications included 5 cases of cellulitis and 2 hemarthroses in patients not receiving thromboprophylaxis. Late complications included two patients with aseptic loosening in prosthetic knees leading to TKA revisions, one with a subsequent joint infection requiring surgical debridement and one patient with a worsening flexion contracture requiring TKA revision.

Conclusions:

While there are risks associated with TJA in patients with bleeding disorders, our data suggest they are outweighed by the benefits manifesting as decreased pain and improved function. Pharmacologic thromboprophylaxis appears safe in this population; whether it is necessary is unknown and should be a subject of future trials.

Objective:

Few online resources are available for teens and young adults living with hemophilia. Frankly.net aspires to serve as a candid, trusted resource on real issues of concern for this age group. Our online forum provides news, tips and information to help young adults with hemophilia live the lives they choose.

Method:

In 2008, an editorial board was established to guide the creation of Frankly.net, an online magazine targeting young men with hemophilia. Board members include experts in the areas of healthcare, social work and advocacy, and two are young men living with hemophilia.

Frankly.net content is controlled exclusively by the editorial board and sponsored by Bayer Healthcare with the goal of casting light on often taboo subjects within the community, such as sexuality, drugs and depression. An editorial calendar is maintained to ensure fresh content is published regularly.

Frankly.net is mobile-optimized and includes rich video content. Users are encouraged to keep up with the latest content by following @FranklyNet on Twitter.

Summary:

Since its inception, the editorial board has guided the creation of more than 80 stories. Articles include topics that resonate with young adults such as travel, entertainment, relationships and sex. Engaging video stories are also available in English and Spanish.

To date, Frankly.net has seen nearly 7,500 visitors from more than 125 countries across the globe, including the US, India, Germany, Canada.

In 2013, Frankly.net underwent a site makeover, re-launching with a new look and feel. Plans to further engage with an international audience are also underway. Korea launched a fully translated site in early 2013 under the guidance of a Korean editorial board. A Latin American version is in development and content from the site has been repurposed and translated in a dozen countries.

Conclusions:

Frankly.net is a unique resource for teenagers and young adults with hemophilia around the world. It continues to push boundaries as a way to help young men navigate the ups and downs of living with hemophilia.

Objectives:

The purpose of this pilot study was to quantify prevalence of food insecurity and determinants among households including children with hemophilia. Food insecurity, the limited or uncertain availability of nutritionally adequate and safe food, negatively affects children’s development and health. Households including people with hemophilia may be at increased risk for food insecurity due to hemophilia-related medical expenses and employment limitations.

Methods:

Food insecurity and health status, as assessed at annual comprehensive visits from May 2012-January 2013 were obtained by chart review. A two-question, validated screening tool was used to assess food insecurity status Descriptive statistics were applied to summarize participant characteristics. This study was approved by the Oregon Health & Science University Institutional Review Board.

Summary:

Data were available for forty-two male participants, aged 0-18 years, 42.9% had mild or moderate hemophilia and 57.1% severe. Prevalence of food insecurity overall was 16.7% (95% CI 5.4-28.0%), similar to national averages; food insecurity was rare among those with mild and moderate disease (5.6%) and concentrated among those with severe disease (25.0%; 95% CI 7.7-42.3%). Additionally, children who were older, taller, heavier, had higher body mass index (BMI) status, or were identified as a minority race or ethnicity were at increased risk for food insecurity (all P>0.05).

Conclusions:

This study provides pilot data showing the need for food insecurity screening and linkage to resources as a routine part of care, and the need for improved understanding of the determinants of food insecurity in this population.