Living with Plasminogen deficiency, type I
An inherited condition that causes thick, inflamed growths on moist body linings, most often the inner eyelids.
Understanding Plasminogen deficiency, type I
The growths most often affect the eyes, causing ligneous conjunctivitis with thick, woody, yellow, white or red growths on the inside of the eyelids. Growths can also form in the mouth, gums, nose, vagina, digestive tract and windpipe. They are often triggered by infection or injury and may return after removal. Eye growths can lead to vision loss.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thick, woody growths on the inner eyelids
- Eye problems and vision changes
- Gum enlargement
- Inflamed gums (gingivitis)
- Growths that return after removal
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in PLG are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Plasminogen Deficiency Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PLG gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: hypoplasminogenemia; plasminogen deficiency type 1; plasminogen deficiency, type 1; type 1 plasminogen deficiency
Patient organizations
- Plasminogen Deficiency FoundationPlasminogen deficiency, type I · United States
You are more than your diagnosis
Perspectives from people navigating life with Plasminogen deficiency, type I.
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