遗传性出血性毛细血管扩张(HHT), also known as Olser-Weber-Rendu, is a
genetic disorder that affects blood vessels in many parts of the body.
这种情况不常见,但并不罕见。 关于 1 out of 10,000 people in the United States are
affected, and as many as 6 million people worldwide have HHT.
Telangiectases and arteriovenous malformations (AVMs) are the characteristic lesions
of this condition. These represent abnormal connections between arteries and veins
in which the small capillaries that normally join the arteries and veins are missing.
HHT has extremely variable expression in terms of both location of lesions and severity
of symptoms, even between close relatives.
在受影响的个体中,它经常被误诊。
The most commonly affected organs are the nose, skin, lungs, gastrointestinal tract
and brain—in that order.
HHT is an autosomal dominant genetic disorder, which means that it can be passed onto
children from one parent; 平均约有一半的儿童会受到影响。
90-95% of individuals with HHT will develop nose bleeds by adulthood, but severity
varies from infrequent and minor to daily and severe.
90-95% develop at least a few telangiectasia on the skin of the face and/or hands
by middle age; these typically appear as purple spots 1/16 to 1/8" in diameter, but
they can be pin point in size.
30%有肺或肺动静脉畸形(PAVM)
20% develop significant stomach or intestinal bleeding, but not usually before age
50.
10-15%的人至少有一个大脑或脑AVM (CAVM)。
肝脏AVM的比例不详。
The severity of epistaxis or telangiectases of the skin does not correlate with the
likelihood to have internal AVM (i.e. brain or PAVM)
未经治疗,PAVM是HHT家族中风和脑脓肿的常见原因。
如果不进行治疗,脑动静脉畸形是HHT家族出血性中风的常见原因。
Treatments are available for almost all symptoms of HHT and have evolved significantly
in the last decade.