无效变异的患者可能患有轻度血管Ehlers-Danlos综合征,呈现看似非特异性的投诉和微妙的皮肤特征,可能会错过。高度怀疑和早期基因检测(借助下一代测序)对于预防患者和家庭成员危及生命的并发症至关重要。
Patients with null variants may have milder vascular Ehlers-Danlos syndrome, presenting with seemingly non-specific complaints and subtle cutaneous features that may be missed. A high index of suspicion and early genetic testing (aided by next-generation sequencing) were crucial for prevention of life-threatening complications in the patient and family members.