Congenital Plasminogen Deficiency
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Congenital Plasminogen Deficiency is not the name you expected.
Congenital plasminogen deficiency type I is a rare genetic disorder. Individuals lack an enzyme called plasminogen. They develop thick growths, sometimes referred to as lesions, on the mucous membranes of the body. The mucous membranes are a moist layer of tissue that serves as a protective barrier that keeps the inside of the body from drying out. The mucous membrane that lines the inside of the eyelids and the front of the eye (called the conjunctiva) and mucous membrane that lines the inside of the mouth are most often affected. Other mucous membranes can be affected including those lining the nose, the middle ear, the stomach and intestines (gastrointestinal tract), and the respiratory tract. Abnormal growths form on these mucous membranes and without treatment can potentially cause significant complications in certain areas. The growths may resemble a membrane and are sometimes called pseudomembranes. They are described as having a ‘woody' texture. The growths usually recur if they are removed. The overall severity of the disorder can vary greatly from one person to another depending where the growths occur. The disorder is caused by alterations in the PGL gene, which leads to a deficiency in the plasminogen.
Two types of the disorder have been described in the medical literature. Congenital plasminogen deficiency type I, also called hypoplasminogenemia, - if transmitted from both parents - is a severe disorder and primarily discussed in this report. Congenital plasminogen deficiency type II, also called dysplasminogenemia, is not believed to be associated with any symptoms.
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Last Updated: 6/7/2016
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