顯性遺傳的,60歲以上的父或母應該顯示此病。症狀不十分符合

來源: 吃與活 2015-03-11 14:09:44 [] [博客] [舊帖] [給我悄悄話] 本文已被閱讀: 次 (1481 bytes)
回答: hereditary hemorrhagic telangiectasiasuboinuk2015-03-11 12:56:51
http://en.wikipedia.org/wiki/Hereditary_hemorrhagic_telangiectasia#Pathophysiology

The diagnosis can be made depending on the presence of four criteria, known as the "Curaçao criteria".[15] If three or four are met, a patient has "definite HHT", while two gives "possible HHT":

1.Spontaneous recurrent epistaxis
2.Multiple telangiectasias in typical locations (see above)
3.Proven visceral AVM (lung, liver, brain, spine)
4.First-degree family member with HHT

Despite the designation "possible", someone with a visceral AVM and a family history but no nosebleeds or telangiectasias is still extremely likely to have HHT, because these AVMs are very uncommon in the general population. At the same time, the same cannot be said of nosebleeds and sparse telangiectasias, both of which occur in people without HHT, in the absence of AVMs. Someone's diagnostic status may change in the course of life, as young children may not yet exhibit all the symptoms; at age 16, thirteen percent are still indeterminate, while at age 60 the vast majority (99%) have a definite diagnostic classification. The children of established HHT patients may therefore be labeled as "possible HHT", as 50% may turn out to have HHT in the course of their life
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