Plasminogen deficiency is a rare genetic condition that affects the body’s ability to break down blood clots and remove unwanted protein deposits from tissues. This guide explains the disease, its causes, symptoms, treatments, and how to manage living with it.

What is Plasminogen Deficiency?

Plasminogen deficiency is a condition where your body doesn’t produce enough plasminogen, a protein essential for breaking down fibrin (a substance involved in clot formation) and clearing excess proteins from tissues. This leads to the buildup of abnormal protein deposits in different parts of the body, which can cause various health problems.

There are two types of plasminogen deficiency:

• Type 1 (Hypoplasminogenaemia): A severe form where plasminogen levels are very low or absent.
• Type 2 (Dysplasminogenaemia): A milder form where plasminogen levels are normal but the protein doesn’t function correctly.

Key Facts About Plasminogen Deficiency

Background

• The condition was first recognised in the 1990s and is still considered rare.
• It is also known as ligneous conjunctivitis when it primarily affects the eyes, forming wood-like deposits on the conjunctiva (the clear tissue covering the white part of the eye).

Causes

• Plasminogen deficiency is caused by mutations in the PLG gene, which provides instructions for making plasminogen.
• These mutations either reduce plasminogen production or impair its function, leading to protein buildup in tissues.

Incidence and Prevalence

1. Incidence refers to new cases diagnosed each year, while prevalence refers to how many people have the condition at any given time.
2. Plasminogen deficiency is extremely rare, affecting approximately 1–2 individuals per million worldwide.

Who is Affected?

• Age: Symptoms can appear at any age but often begin in infancy or childhood.
• Gender: Both males and females are equally affected.
• Ethnicity: The condition occurs in all ethnic groups and regions of the world.

Geographic Distribution

• There are no specific regions with higher prevalence; cases have been reported globally.

How Does Plasminogen Deficiency Impact You?

Symptoms

The symptoms of plasminogen deficiency depend on where protein deposits form in your body:

• Eyes: Ligneous conjunctivitis causes thick, wood-like growths on the conjunctiva, leading to redness, irritation, and vision problems if untreated.
• Mouth and Airways: Growths may form in the gums or throat, causing difficulty breathing or swallowing.
• Genital Tract: In females, protein deposits can affect reproductive organs, leading to infertility or complications during pregnancy.
• Other Areas: Deposits may also form in the skin, kidneys, or central nervous system, causing additional health issues.

Living With Plasminogen Deficiency

Living with this condition often involves managing symptoms and preventing complications through regular medical care.

Expected Life Expectancy

With early diagnosis and appropriate treatment, most individuals with plasminogen deficiency can live a normal lifespan. However, untreated severe cases may lead to life-threatening complications.

Managing and Treating Plasminogen Deficiency

Available Treatments

Treatment focuses on managing symptoms and preventing complications:

• Plasminogen Replacement Therapy:
  • This involves infusions of purified plasminogen to restore normal levels in your blood and tissues.
  • It has shown promising results in reducing protein deposits and preventing recurrence.

• Surgical Removal of Deposits:
  • In some cases, surgery may be needed to remove large or obstructive protein deposits.
  • However, deposits often recur without additional medical treatment.

• Topical Treatments for Eye Symptoms:
  • Special eye drops containing plasminogen or anti-inflammatory medications can help manage ligneous conjunctivitis.

• Supportive Care:
  • Antibiotics may be prescribed if infections occur due to protein buildup.
  • Pain management or other symptom-specific treatments may also be necessary.

Ongoing Clinical Research

Research into plasminogen deficiency continues to explore better treatments and diagnostic methods:

• Gene Therapy: Scientists are investigating ways to correct mutations in the PLG gene that cause plasminogen deficiency.
• Improved Replacement Therapies: Clinical trials are underway for more effective and longer-lasting plasminogen replacement therapies.
• Biomarker Studies: Researchers are identifying biomarkers (measurable indicators) to improve early diagnosis and monitor treatment effectiveness.

Support Groups and Resources

If you have been diagnosed with plasminogen deficiency, connecting with support groups can provide valuable information and emotional support:

1. Rare Disease UK (raredisease.org.uk) – Offers resources for individuals living with rare conditions like plasminogen deficiency.
2. Global Genes (globalgenes.org) – Provides information on rare diseases and connects patients with advocacy groups worldwide.
3. National Organisation for Rare Disorders (NORD) (rarediseases.org) – Offers support for patients with rare diseases like plasminogen deficiency.

 

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Remember:

This information is intended for general knowledge and educational purposes only and does not constitute medical advice. It is essential to consult with a qualified healthcare professional for any health concerns or before making any decisions related to your health or treatment.

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