Kuorilehto Tommi, Pöyhönen Minna, Keski-Nisula Leo, Laurikka Jari, Salenius Juha-Pekka
TAYS, kirurgian vastuualue, verisuonikirurgia.
Duodecim. 2011;127(21):2280-6.
The Marfan syndrome, vascular type Ehlers-Danlos syndrome and neurofibromatosis 1 are associated with vascural complications that may be fatal. Therefore, referral to treatment should be properly timed, followed by therapy taking special features of the disease into consideration. When treating a vascular malformation related to an inherited disorder, it is important to collaborate with clinical geneticists in order to obtain genetic counseling and DNA diagnostics as well as to elucidate the status of close relatives.
马方综合征、血管型埃勒斯-当洛综合征和神经纤维瘤病1型与可能致命的血管并发症相关。因此,应适时转诊进行治疗,随后进行考虑疾病特殊特征的治疗。在治疗与遗传性疾病相关的血管畸形时,与临床遗传学家合作以获得遗传咨询和DNA诊断并阐明近亲状况非常重要。