Overview
Hypoplasminogenemia is a rare inherited condition where the body does not make enough of a protein called plasminogen. Plasminogen is made in the liver and plays a key role in breaking down blood clots and keeping mucous membranes — the moist linings of the body — healthy and clear. When plasminogen levels are too low, a thick, woody-textured tissue called ligneous (wood-like) tissue can build up on these moist surfaces. This condition is also known as plasminogen deficiency type I or ligneous disease. The most common and visible sign is ligneous conjunctivitis — a build-up of thick, yellowish-white membranes on the inner surface of the eyelids. This can cause pain, vision problems, and if left untreated, permanent eye damage. The same type of tissue can also grow in the gums, airways, ears, kidneys, and female reproductive tract. Symptoms can appear at any age but often start in childhood. Treatment focuses on replacing plasminogen to reduce or eliminate the abnormal tissue build-up. A plasminogen concentrate (Ryplazim) was approved by the FDA in 2021 and is the first specific treatment for this condition. Without treatment, the disease can significantly affect quality of life, especially vision and breathing. With proper care, many patients can manage their symptoms effectively.
Also known as:
Key symptoms:
Thick, woody membranes growing on the inner eyelids (ligneous conjunctivitis)Eye redness, irritation, and painBlurred or reduced visionThick tissue growths on the gums (ligneous gingivitis)Difficulty breathing if tissue grows in the airways or windpipeHearing problems if tissue grows in the ear canalsAbnormal tissue in the female reproductive tractKidney involvement in some casesRecurrent or slow-healing woundsSwollen or inflamed mucous membranes throughout the body
Clinical phenotype terms (16)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
2 eventsDorothy Bautista, MD — PHASE3
Indiana Hemophilia &Thrombosis Center, Inc.
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableRyplazim
Treatment of patients with plasminogen deficiency type 1 (hypoplasminogenemia)
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Hypoplasminogenemia.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What are my plasminogen activity levels, and how low are they compared to normal?,Am I a candidate for Ryplazim infusion therapy, and how often would I need infusions?,Which organs should be checked for involvement, and how often should I be monitored?,Should my family members be tested for the PLG gene change?,What should I do if the eye membranes grow back between treatments?,Are there any clinical trials I could join for new treatments?,What emergency signs should prompt me to go to the hospital immediately?
Common questions about Hypoplasminogenemia
What is Hypoplasminogenemia?
Hypoplasminogenemia is a rare inherited condition where the body does not make enough of a protein called plasminogen. Plasminogen is made in the liver and plays a key role in breaking down blood clots and keeping mucous membranes — the moist linings of the body — healthy and clear. When plasminogen levels are too low, a thick, woody-textured tissue called ligneous (wood-like) tissue can build up on these moist surfaces. This condition is also known as plasminogen deficiency type I or ligneous disease. The most common and visible sign is ligneous conjunctivitis — a build-up of thick, yellowis
How is Hypoplasminogenemia inherited?
Hypoplasminogenemia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Hypoplasminogenemia?
Yes — 2 recruiting clinical trials are currently listed for Hypoplasminogenemia on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Hypoplasminogenemia?
8 specialists and care centers treating Hypoplasminogenemia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Hypoplasminogenemia?
1 patient support program are currently tracked on UniteRare for Hypoplasminogenemia. See the treatments and support programs sections for copay assistance, eligibility, and contact details.