Plasminogen Deficiency

Profile of Type 1 Plasminogen Deficiency

In Whitepapers by Freya Smale

Whitepaper provided by Prometic. Download it here

Plasminogen Deficiency, as with many rare diseases, is not well known nor recognized. Yet for people afflicted with this autosomal recessive condition, it has devastating consequences.

The prevalence of Type 1 Plasminogen Deficiency is estimated to be in the range of one to two persons per million population, globally. Its ultra-orphan status means that few healthcare professionals will encounter or gain experience with Type 1 Plasminogen Deficiency (T1PD) in their medical practice. The remarkable heterogeneity in symptom presentation further complicates timely differential diagnosis and delays treatment. Patients may experience inflammation of mucous membranes and fibrous lesions in the eyes, sinuses, respiratory tract, upper and lower gastrointestinal tract, or genital-urinary tract. The central nervous system and epidermis (skin) are affected less frequently.

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