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(I78.0) Hereditary haemorrhagic telangiectasia
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137 400 in individuals diagnosis hereditary haemorrhagic telangiectasia confirmed
3 785 deaths with diagnosis hereditary haemorrhagic telangiectasia
3% mortality rate associated with the disease hereditary haemorrhagic telangiectasia
Diagnosis hereditary haemorrhagic telangiectasia is diagnosed Men are 7.88% more likely than Women
74 113
Men receive the diagnosis hereditary haemorrhagic telangiectasia
1 915 (2.6 %)Died from this diagnosis.
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63 287
Women receive the diagnosis hereditary haemorrhagic telangiectasia
1 870 (3.0 %)Died from this diagnosis.
Risk Group for the Disease hereditary haemorrhagic telangiectasia - Men aged 60-64 and Women aged 65-69
In Men diagnosis is most often set at age 0-1, 5-24, 30-89
Less common in men the disease occurs at Age 0-5, 25-29, 90-95+in in women, the disease manifests at any age
In Women diagnosis is most often set at age 0-95+
Disease Features hereditary haemorrhagic telangiectasia
Absence or low individual and public risk
Hereditary haemorrhagic telangiectasia - what does this mean
Hereditary haemorrhagic telangiectasia (hht) is an autosomal dominant genetic disorder caused by a mutation in one of several genes involved in the regulation of blood vessel formation. the condition is characterized by the formation of abnormal, fragile blood vessels throughout the body, which can lead to recurrent nosebleeds, gastrointestinal bleeding, and arteriovenous malformations (avms) in the lungs, brain, and liver.
What happens during the disease - hereditary haemorrhagic telangiectasia
Hereditary haemorrhagic telangiectasia (hht) is a genetic disorder caused by mutations in the genes responsible for controlling the development and maintenance of blood vessels. these mutations cause abnormal blood vessels to form, leading to the formation of small, dilated, and fragile blood vessels, which can easily rupture and lead to excessive bleeding. additionally, these abnormal blood vessels can form in vital organs such as the lungs and brain, leading to further complications.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Complete physical examination
- Family history
- Blood tests
- Imaging studies such as CT or MRI scans
- Genetic testing
- Endoscopy
- Angiography
- Pulmonary function tests
Treatment and Medical Assistance
The main goal of the treatment for Hereditary Hemorrhagic Telangiectasia is to reduce the frequency and severity of bleeding episodes.
- Monitoring the patient's condition and providing symptomatic relief.
- Medications to reduce the frequency of bleeding episodes, such as antifibrinolytics.
- Surgical interventions such as embolization, laser therapy, and sclerotherapy.
- Regular checkups to monitor the progression of the disease.
- Counseling to help the patient and family cope with the condition.
- Genetic testing to detect mutations in the HHT gene.
- Nutritional support to maintain a healthy lifestyle.
- Education on the disease and its effects.
8 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Hereditary haemorrhagic telangiectasia - Prevention
The best way to prevent hereditary haemorrhagic telangiectasia is to understand your family medical history and be aware of the risk factors. genetic testing can be used to confirm a diagnosis and identify those at risk of developing the condition. early detection and treatment of the disease can help prevent serious complications.