Congenital Plasminogen Deficiency
Treatments and Life Expectancy:
Diagnosis:
- Congenital Plasminogen Deficiency is a disorder born to the individual, thus making it incurable.
- It can be treated through removal of the built up fibers, but the fibers can grow back even after removal.
- Patients with Congenital Plasminogen Disorder have a chance of an early death, but it generally only shortens the life of children who acquire it.
- It usually only provides a hindrance for ones life.
- In patients being diagnosed for the disorder, doctors look for:
- Fiber's covering exposed skin, most commonly the eyeball.
- The autosomal recessive gene in the patients ancestral history through blood tests.
- Mistakes can be made in diagnosis if the disorder does not appear to be serious.
- Those mistakes lead to maltreatment and patients remaining sick with no ailment.
Works Cited:
http://ghr.nlm.nih.gov/condition/congenital-plasminogen-deficiency
http://www.hemophilia.org/NHFWeb/Resource/StaticPages/menu0/menu5/menu330/PlasminogenDeficiency.pdf
http://www.rightdiagnosis.com/p/plasminogen_deficiency_congenital/intro.htm
Afflicted Types of People
By: Alex Herman and Connor Desselle
Chromosome Location:
Type of Mutation
- Congenital Plasminogen Deficiency afflicts people worldwide, but appears to be more prevalent in countries whose inhabitants are carriers of the trait/ disorder.
- Women appear to have a higher chance of acquiring the disease, proven by the 2:1 ratio between women and men.
- Any age group can acquire the disorder and be affected by it.
Congenital Plasominogen Deficiency is autosomal recessive meaning that both parents are carriers, but are not necessarily affected by the disorder itself.
- the location of the disorder comes from the PLG gene which gives directions for the creation of the protein plasminogen.
- An enzyme named plasminogen activators turns plasminogen into protein plasmin.
- This protein breaks down fibrin which is used to heal wounds.
- If the fibrin does not become broken down then it starts to grow over the body.
Congenital Plasminogen Deficiency
Frequency
is a disorder that results in inflamed growths on the mucous membrane, which are the moist tissues that line body openings such as eye lids or inside of the mouth.
- In the world, every 1.6 out of a million people acquire Congenital Plasminogen Deficiency.
- However, if a case appears mild it may not be diagnosed which takes credibility away to the statistic.
- Known accounts of the disorder have ranged all the way from Turkey to Japan.
Reasons and Explanation of Symptoms:
- Eyes are the mot susceptible part of the body to be affected by the disorder.
- Plasominogen allows blood clots to be broken down, thus allowing for blood clots to begin forming.
- Atherosclerosis is when arteries become clogged or hardened; can happen to any artery.
Symptoms
- Difficulty with vision, or irritation with eyes.
- Blood clots are forming inside of the body.
- A higher risk of getting atherosclerosis.