An international registry of patients with plasminogen deficiency (HISTORY).

An international registry of patients with plasminogen deficiency (HISTORY). Haematologica. 2020 Jan 30;: Authors: Shapiro AD, Menegatti M, Palla R, Boscarino M, Roberson C, Lanzi P, Bowen J, Nakar C, Janson IA, Peyvandi F Abstract Plasminogen deficiency is an ultra-rare multisystem disorder characterized by the development of fibrin-rich pseudomembranes on mucous membranes. Ligneous conjunctivitis, which can result in vision impairment or loss, is the most frequent symptom reported; affected systems may also include the respiratory tract, oropharynx, female reproductive tract, gingiva, middle ear, renal collecting system, skin and central nervous system. Untreated, plasminogen deficiency may result in significant reduction in quality of life and morbidity with potential life-threatening complications. Non-specific therapies are inadequate and plasminogen concentrates are not commercially available. Current understanding of plasminogen deficiency and management of disease symptoms and its progression is based on case reports/series and two small clinical trials. To date there has never been a comprehensive, international study to examine natural history or optimal therapeutic intervention; knowledge gaps include identification of contributing factors and triggers of disease manifestations, inability to predict disease course, and insufficient real-world data for use of therapeutics. We have created an international, observational stu...
Source: Haematologica - Category: Hematology Authors: Tags: Haematologica Source Type: research