Comprehensive care in hemophilia

Abstract

Hemophilia is a chronic and inherited X-linked bleeding disorder that requires life-long medical care. Hemophilia treatment is costly and complex partly because of the cost of the factor concentrates used in replacement therapy. However, the management of hemophilia is not based solely on achieving access to better treatment with safe factor concentrates; it also includes accurately diagnosing the disorder and providing specialized comprehensive care by a multidisciplinary team of specialists trained in hemophilia management. Comprehensive care for the person with hemophilia is defined as the continuous supervision of all medical and psychological aspects affecting the patient and his family and it demands the establishment of specialized centers, called Hemophilia Treatment Centers. The services that should be offered by a comprehensive hemophilia healthcare center are diverse and the multidisciplinary team should be coordinated preferably by a hematologist with the participation of other health professionals. It has been demonstrated that the benefits of establishing hemophilia centers are observed even in developing countries and that changes can be achieved when resources are re-organized, especially when education and training are provided at all levels. To reach these objectives, it is essential to have the participation of the patient and family members, and to strive to obtain the financial and legislative support from the State or Government in order to achieve a national comprehensive care program contemplating all the aspects needed for improving the quality of life for the community of patients with hemophilia and other bleeding disorders.

Keywords:

• Hemophilia
• Comprehensive care
• Treatment

Introduction

Hemophilia is an inherited X-linked bleeding disorder that affects approximately 1–2 per 10·000 males in all human populations. It is a heterogeneous clinical entity classified as hemophilia A for factor VIII deficiency and hemophilia B for factor IX deficiency; the two forms are clinically indistinguishable and bleeding correlates to the level of the deficient factor. Hemophilia is a chronic and inherited condition that requires life-long medical care.

Hemophilia treatment is costly and complex partly, because it is a relatively infrequent condition and because of the cost of the factor concentrates used in replacement therapy. However, the vision of ‘Treatment for All’ of the World Federation of Hemophilia (WFH) is not based solely on achieving access to better treatment with safe factor concentrates; it also includes accurately diagnosing the disorder and providing specialized care by a multidisciplinary team of specialists trained in hemophilia management.1

Comprehensive Care

Comprehensive care for the person with hemophilia is defined as the continuous supervision of all medical and psychological aspects affecting the patient and his family.2 Optimal patient treatment is based on the early detection and specific diagnosis of the condition; prevention and treatment of both the hemorrhages that characterize hemophilia and of complications, particularly hemophilic arthropathy and treatment-related complications, such as the development of inhibitors or infectious complications transmitted through the use of blood products; and the psychosocial and educational support needed for managing this bleeding disorder.

This comprehensive clinical management demands the establishment of specialized centers, called Hemophilia Treatment Centers. Multidisciplinary management of the patient with hemophilia started in USA in 1970 as an initiative of healthcare professionals committed to hemophilia treatment who had the support of patient associations. They were initially conceived to develop home treatment programs and provide training to patients and their families in order to fulfill this objective. By 1976, the first favorable results brought about by the application of this comprehensive management concept at hemophilia centers were reported; through the application of this healthcare model the number of hospitalization days and treatment costs had gone down,3 and in the long term, the importance of comprehensive care was noted in the decline of hospitalizations from 9·4 to 1·8% per year, the decrease by 5 times in school absences and the decrease in unemployment from 30 to 13%.4

More recently, it has been confirmed both in the USA and Europe that patients with hemophilia receiving treatment at hemophilia centers had a lower mortality rate, fewer hospitalizations and better quality of life than those patients who were not treated in a multidisciplinary care setting even when the latter were under the care of a hematologist.5,6

It is important to highlight that comprehensive care is one of the essential elements in the model for the development of a national healthcare program for patients with hemophilia proposed by the WFH; it is currently recommended that comprehensive hemophilia treatment centers be set up in order to guarantee that patients and their families have access to all the services needed to control this disorder.7,8 Key elements of hemophilia centers are the availability of experts for the treatment of bleeding disorders and their complications, the maintenance of supervised home treatment programs, and an educational program for patients, families, healthcare professionals, and the community at large.

Hemophilia Centers and the Multidisciplinary Team

Centers have been classified as Hemophilia Treatment Units, Comprehensive Hemophilia Centers, and Comprehensive Reference Centers based on the number of patients and the diversity of services offered. In 1997, the WFH produced a document defining the three levels of healthcare recommended for structuring a national healthcare plan for patients with hemophilia, from emergency hospital care to follow-up at reference centers. In order for the benefits of treatment centers to reach hemophilia patients distributed over large geographical areas, it is recommended that a regional network be set up; this network can be coordinated by the most experienced comprehensive treatment center. Regarding this subject, we recommend reading the material developed by the WFH in information sheets 1, 3, and 7.9

The services that should be offered by a comprehensive hemophilia healthcare center are diverse and should include access to 24-hour emergency medical care. The center should have adequate clotting factors and other hemostatic agents, and a coagulation laboratory for the determination of factors and inhibitors.

The basic multidisciplinary team should be formed by: a physician — preferably a hematologist experienced in hemostasis and acting as coordinator or director, a nurse, experts in musculoskeletal aspects — usually a physiotherapist or orthopedist, a laboratory specialist, and an expert in psychosocial aspects. All of these should be appropriately trained and experienced in the management of the disorder.

Other professionals of the healthcare team may include: dentists, hepatologists, infectologists, gynecologists, and other professionals who may act as consultants according to patient needs and keep close communications with the basic healthcare team members.

The duties of the comprehensive hemophilia treatment center are to:

1. provide and coordinate hospital and outpatient care and services to patients and their families. Complete hematologic, musculoskeletal and psychosocial evaluations are recommended yearly for adults and every 6 months for children;

2. maintain a supervised home treatment program;

3. information collection: this should include regional and national registries of patients with bleeding disorders; the national registry is especially important for establishing the communications with state agencies needed to put in place policies that will guarantee resource optimization;

4. document the treatment administered, number of episodes per year, particularly in patients receiving prophylactic treatment, number of absences from school or work, and assess the long-term results, particularly, with regard to musculoskeletal function;

5. basic and clinical research, particularly through participation in collaborative trials.

Other major functions include the preparation of treatment protocols or guidelines to help physicians and family members access a better source on therapeutic resources, maintain strict pharmacosurveillance, and cooperate with the competent authorities in designing healthcare policies for hemophilia patients.

As the incidence of hemophilia is constant among various races and ethnic groups, the prevalence of hemophilia in a country may be considered a way of assessing the care and treatment received by patients. It has been demonstrated that the benefits of establishing hemophilia centers are observed even in developing countries with low GDP <US$2000 per person, in which survival to adulthood and therefore the prevalence of people with hemophilia is quintupled, if they have access to a hemophilia treatment center. Besides, even though the availability of financial resources is the key determining factor, it has been demonstrated that changes can be achieved when resources are re-organized, especially when education and training are provided at all levels.10

Hemophilia centers have progressively become centers for epidemiological studies, for the diagnosis of other bleeding and thrombotic disorders, and for clinical research.

To reach these objectives, it is essential to have the participation of the patient and family members, and to strive to obtain the financial and legislative support from the State or Government in order to achieve a national comprehensive care program contemplating all the aspects needed for improving the quality of life for the community of patients with hemophilia and other bleeding disorders.