What is Plasminogen Deficiency (en anglais seulement)

December 6, 2016

Understanding Plasminogen Deficiency

Sarah Bein, MD, is a physician but also a patient with plasminogen deficiency. In this video clip, she talks about the pathophysiology and genetics of this rare condition.

So, plasminogen deficiency is also sometimes called type 1 plasminogen deficiency and it is a congenital deficiency that effects various internal mucosal surfaces of the body. It can result in focal inflammation as well as the development of various pseudo-membranous lesions also called fibrous lesions. It is an autosomal recessive condition which means that offspring of parents must inherit two copies of a recessive gene in order for the condition to present. So, for every offspring, there's a 1 in 4 chance that the child will be affected by the disease. 

The most common manifestation of plasminogen deficiency is a condition called ligneous conjunctivitis and that is affected, you know involvement of the eyes. So, what you can see there is a child will often present with irritated, red eyelids - the upper or the lower eyelid and also like i mentioned the formation of those woody thick fibrous lesions.

Patients can also have involvement in other musocal surfaces of the body ranging from the oral fairings to the nasal fairings the tracheal, bronchial tree and other areas as well.

Development of these fibrous lesions are usually mediated by trauma of infection and that can range from anything from an internal surgery where the mucosal surface is traumatised or something as innocuous as seasonal allergies or a cold.  Though that is most common, development of these lesions are spontaneous as well.

Copyright 2016 RareDisease Report www.raredr.com


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