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Understanding HHT and the Role of Genetic Testing
Understanding HHT and the Role of Genetic Testing
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Guest
Guest
Aug 26, 2024
12:25 AM
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Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu Disease, is a rare genetic condition. If you inherit just one copy of the altered gene from an affected parent, you could develop HHT. This condition disrupts how your blood vessels form and function.
What is HHT?
HHT causes abnormal blood vessels to form in your body. You might experience two main issues: telangiectasias and arteriovenous malformations (AVMs). Telangiectasias are small, dilated blood vessels that show up on your skin, particularly on your face, tongue, and inside your nose. They can cause noticeable redness and frequent nosebleeds. AVMs are more serious. They create abnormal connections between arteries and veins, skipping the capillary system. These malformations can occur in your brain, lungs, liver, and gastrointestinal tract, leading to various health problems.
Symptoms of HHT
Your symptoms will vary depending on which organs are affected. In your brain, AVMs might cause headaches, seizures, and neurological issues like weakness or trouble speaking. In severe cases, you could experience a hemorrhagic stroke. If your lungs are involved, you might have shortness of breath or complications such as brain abscesses. Liver AVMs could lead to pain or liver dysfunction. Additionally, gastrointestinal bleeding is common and may cause chronic anemia.
Life Expectancy and Management
Your life expectancy with HHT can vary. However, with the right management and timely treatment, many people with HHT live fulfilling lives. To manage HHT effectively, you need a comprehensive approach. Regular monitoring and proactive treatment are crucial for improving your quality of life and extending your lifespan.
Facial Features
HHT often affects your face. You might notice telangiectasias as reddish or purple spots around your nose, lips, and cheeks. These spots can become more prominent over time and may lead to frequent nosebleeds and bleeding in your mouth.
Genetic Testing
Genetic testing is an important tool for diagnosing HHT and guiding your treatment. If your test is positive, it confirms the presence of pathogenic mutations, helping to tailor your treatment plan. A negative result means no mutations were found, but HHT cannot be entirely ruled out if you have symptoms. If you receive a variant of uncertain significance (VUS) result, further research and family history analysis are needed for a clear diagnosis.
Conclusion
Hereditary Hemorrhagic Telangiectasiais a rare genetic condition that affects blood vessels throughout your body. Understanding its symptoms and management options is key. Genetic testing can help diagnose HHT and guide your care. With regular monitoring and a comprehensive treatment plan, you can manage HHT effectively and maintain a good quality of life.
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