Causes
As well as Osler-Weber-Rendu syndrome, hereditary hemorrhagic telangiectasia (HHT) is characterized by abnormal blood vessel formation. Mutations in genes involved in blood vessel development and maintenance, such as ENG (endoglin) and ACVRL1 (activin receptor-like kinase 1), are the primary cause.
Symptoms
Symptoms of hereditary hemorrhagic telangiectasia vary widely among affected individuals, but commonly include:
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HHT is characterized by frequent and severe nosebleeds (epistaxis).
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Blood vessels that appear as red or purple spots or streaks near the surface of the skin and mucous membranes are known as telangiectasias.
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Blood clots and organ dysfunction can occur as a result of arteriovenous malformations (AVMs) in different organs, including the lungs, liver, brain, and gastrointestinal tract.
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Symptoms of anemia include chronic blood loss from nosebleeds or gastrointestinal bleeding.
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AVMs that affect blood vessels in the brain may increase the risk of stroke in individuals with HHT.
Diagnosis
Hereditary hemorrhagic telangiectasia is typically diagnosed by:
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Examine symptoms, including recurrent nosebleeds and characteristic skin lesions.
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Inquiring about family history of HHT or related symptoms.
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To detect AVMs or other vascular abnormalities, imaging tests such as CT scans, MRI scans, or angiography may be conducted.
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Identifying mutations in genes associated with HHT is possible through genetic testing.
Treatment
Hereditary hemorrhagic telangiectasia is treated by managing symptoms and complications. Treatment may include:
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A number of strategies are available to control nosebleeds, including nasal packing, cauterization, and topical treatments.
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In individuals with chronic blood loss, iron supplements are used to treat anemia.
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An embolization or sclerotherapy procedure blocks or reduces blood flow to an AVM.
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AVMs that are large or symptomatic can be surgically removed in certain circumstances.
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Regular monitoring for signs of complications, including routine imaging studies to detect new AVMs or changes in existing ones.
Prevention
Because hereditary hemorrhagic telangiectasia is a genetic condition, it cannot be prevented. However, early diagnosis and appropriate management can prevent or minimize complications. To assess the risk of inheriting or passing on the genetic mutation, individuals with HHT or a family history of the condition may benefit from genetic counseling.
Conclusion
Hereditary hemorrhagic telangiectasia is a genetic disorder characterized by abnormal blood vessel formation, leading to symptoms like recurrent nosebleeds, telangiectasias, and arteriovenous malformations. Treatment aims to manage symptoms, prevent complications, and improve quality of life. Diagnosis involves a combination of medical history, physical examination, imaging studies, and genetic testing. Despite the fact that hereditary hemorrhagic telangiectasia cannot be prevented, early diagnosis and appropriate management can help individuals live fulfilling lives.
