Rare Diseases: Focus on Rare Plasma Related Disorders


Valverde, J.L.

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This publication provides an international overview of issues relating to rare plasma related disorders. Unlike many rare diseases, which cannot be diagnosed or appropriately treated, most rare plasma related disorders are treatable, but unacceptable diagnosis rates or misdiagnosis often means that treatment begins too late, or not at all. In addition, information on treatment options, symptoms, diagnosis and access to treatment is not optimal, leading to unnecessary related costs. Rare diseases have been identified as one of the ongoing priorities in the EU Public Health Programme. Cooperation and collaboration among Member States will facilitate the bringing together of scarce and fragmented resources from across the EU and enable patients and professionals to share and coordinate expertise and information. This volume features contributions by leading specialists and key stakeholders. They serve to highlight the priorities pertaining to this community and to identify the solutions and actions necessary to ensure that patients affected by rare plasma related disorders receive appropriate treatment in a timely manner to help them lead normal, happy and productive lives. Some of the conditions discussed include: Alpha-1 Antitrypsin Deficiency; C1 inhibitor deficiency; Guillain-Barré syndrome; Haemophilia; Idiopathic Thrombocytopenic Purpura and Primary Immunodeficiencies. The political, regulatory and legislative framework are also explored. The book will provide a valuable resource for anyone seeking a better understanding of the priorities for patients affected by rare plasma related disorders and will contribute to a better awareness of this important public health issue.