ABSTRACT
Introduction
Inherited bleeding disorders (IBDs) including hemophilia, von Willebrand disease, platelet disorders, mucocutaneous bleeding disorders and coagulation factor deficiencies are rarely found and under-recognized in low and lower-middle-income countries. Some patients succumbed to serious bleeding without diagnosis and treatment during childhood.
Area covered
Diagnosis, management, and prevention should be integrated into the existing health care system. Although some countries have not implemented appropriate health care infrastructure, an initiative plan should be set up by cooperation of experienced experts and health care providers. Identification of patients with IBDs should be started in the antenatal setting to search for females at risk of carrier state. The investigations include bleeding assessment, mixing venous clotting time, coagulogram, coagulation factor assay and mutation detection. Genotypic analysis is helpful for confirming the definite diagnosis, carrier detection as well as prenatal diagnosis for females at risk of bearing an offspring with severe bleeding manifestations. Management involves replacement therapy ranging from blood component to virus-inactivated factor concentrate. Appropriate research is an essential backbone for improving patients’ care.
Expert opinion
Effective national strategic advocacy to manage patients with IBDs requires intensive collaboration among policy makers, health care providers, patients, and family members.
Article highlights
Patients with inherited bleeding disorders (IBDs) are neglected in low and lower-middle-income countries. The number of reported cases is astonishingly low and a dire need exists to improve the diagnosis and appropriate care for them.
National advocacy for patients with IBDs should be integrated in the existing health care system of district, provincial, regional, and university hospitals acting as primary, secondary, tertiary, and comprehensive treatment centers. It helps to upgrade other related medical services such as blood bank and laboratory investigations which will be beneficial to patients with other acquired bleeding disorders.
Home-based treatment programs for early bleeding episodes among patients with hemophilia with severe and moderate degrees should be initiated, followed by low-dose prophylaxis using factor concentrate 10 units/kg twice weekly and increase to thrice weekly, to 15 units/kg and 25 units/kg thrice weekly among unresponsive patients.
Laboratory investigations for both phenotypic and genotypic analysis of patients with IBDs should be set up for services. They constitute challenging aspects for improvement over the next decade for countries with limited resources.
Women and girls from families with IBDs experience a wide range of physical, emotional and psychosocial impacts including feelings of guilt, sorrow, self-blame, and being stigmatized.
Declaration of interests
A Chuansumrit serves on the advisory board of Novo Nordisk and has received honoraria from Novo Nordisk, Grifols, Takeda and Roche. N Sirachainan has received honoraria from Novo Nordisk, Grifols, Takeda, Roche, Pfizer, Novartis and Sanofi. R Natesirinikul has received honoraria from Novo Nordisk, Grifols, Takeda, Roche, Pfizer, Novartis and Sanofi. P Komvilaisak has received honoraria from Novo Nordisk, Grifols, Takeda, Roche, Pfizer, Novartis and Sanofi. P Rojnuckarin has received honoraria from Novo Nordisk, Takeda and Roche.
The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.
Reviewer disclosures
Peer reviewers on this manuscript have no relevant financial relationships or otherwise to disclose.