The criteria stresses the importance of taking a detailed and targeted family history in order to establish the diagnosis of this disorder in an individual. When someone has the HHT genetic mutation it is very likely that they will experience symptoms, but the symptoms of HHT can vary a lot between individuals, even within the same family. These criteria also allow doctors to distinguish between individuals who definitely have HHT, and those in whom it is suspected, ensuring appropriate follow-up and medical management.
The criteria emphasizes that all children of an individual with HHT are at risk of having the disease. It is recommended that if there is any concern regarding the presence or absence of physical signs, a physician experienced with HHT should be consulted. Since establishing the diagnosis of HHT based on clinical criteria is less reliable in children than in adults, genetic testing is important in this age group.
Sometimes a physician is not able to make a definitive clinical diagnosis based on the above criteria alone. In these cases, a genetic test might help determine if they have HHT: A positive genetic test would confirm that someone does have HHT. A negative test does not rule out HHT. Repeat testing in the future would be beneficial in these cases because new HHT causing genes can be discovered. However, there is no cure for HHT. Nosebleeds are the most common sign of HHT, resulting from small abnormal blood vessels within the inside layer of the nose.
Abnormal blood vessels in the skin can appear on the hands, fingertips, face, lips, lining of the mouth, and nose as delicate red or purplish spots that lighten briefly when touched. Bleeding within the stomach or intestines is another possible indicator of HHT that occurs because of abnormal blood vessels lining the digestive tract. Additional signs of HHT include abnormal artery-vein connections within the brain, lungs, and liver, which often do not display any warning signs before rupturing.
HHT is a genetic disorder. Each person with HHT has one gene that is altered mutated external icon , which causes HHT, as well as one normal gene. It takes only one mutant gene to cause HHT. At least five different genes can cause HHT, three of which are known. HHT can be diagnosed by performing genetic testing.
How is hereditary hemorrhagic telangiectasia diagnosed? However, if a doctor suspects that an internal organ has been affected, they may order one or more of the following tests: echocardiogram to look for signs of HHT in the heart computed tomography CT scan to look for signs of HHT in the lungs or liver ultrasound to look for signs of HHT in the lungs or liver magnetic resonance imaging MRI scan to look for signs of HHT in the brain endoscopy to look for signs of HHT in the intestines How is HHT treated?
Treatment may include: electrocautery, a procedure that applies electricity to nasal tissues to stop them from bleeding iron supplementation to reverse anemia.
The commitment and compassion with which we care for all children and families is matched only by the pioneering spirit of discovery and innovation that drives us to think differently, to find answers, and to build a better tomorrow for children everywhere.
Kevin B. Churchwell, President and CEO. Connect with Boston Children's Hospital.
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