Dunmore P J, Roach M R
Department of Medical Biophysics, University of Western Ontario, London.
Clin Invest Med. 1990 Apr;13(2):67-70.
Ehlers-Danlos Syndrome is a rare hereditary connective tissue disorder produced by collagen abnormalities. The Type IV variant causes vascular rupture in the second and third decades. Definitive diagnosis at present is based on demonstrating a deficiency of Type III collagen or procollagen chemically or in fibroblast cultures. Both require fresh tissue. We have shown in fixed autopsy tissue that the elastin in two EDS IV patients appears accordion-pleated with a high waviness index (WI) of 1.58 +/- 0.028 (n = 90) compared to 1.35 +/- 0.08 (n = 446) for 21 controls aged 9 to 71. The WI is the ratio of the length of elastin in the internal elastic lamina to the circumference. The group were significantly different statistically (p less than 0.01) with a randomized block design analysis. Vessel size and age did not alter the WI in either controls or patients. There was significant overlap of data points between the two groups so that no conclusions can be drawn on individual vessels. However, if the waviness index is greater than 1.8, the vessels are unlikely to be normal. We did not study patients with other connective tissue diseases. The WI may be a useful qualitative guide of abnormality in a retrospective study if the diagnosis of Ehlers-Danlos Type IV is entertained.
埃勒斯-当洛综合征是一种由胶原蛋白异常引起的罕见遗传性结缔组织疾病。IV型变异在二三十岁时会导致血管破裂。目前的确诊依据是通过化学方法或在成纤维细胞培养中证明III型胶原蛋白或前胶原蛋白缺乏。这两种方法都需要新鲜组织。我们在固定的尸检组织中发现，两名IV型埃勒斯-当洛综合征患者的弹性蛋白呈现手风琴褶状，波浪指数（WI）高达1.58±0.028（n = 90），而21名年龄在9岁至71岁的对照组的波浪指数为1.35±0.08（n = 446）。波浪指数是内弹性膜中弹性蛋白长度与周长的比值。采用随机区组设计分析，两组在统计学上有显著差异（p小于0.01）。血管大小和年龄在对照组或患者中均未改变波浪指数。两组之间的数据点有显著重叠，因此无法对单个血管得出结论。然而，如果波浪指数大于1.8，血管不太可能是正常的。我们没有研究患有其他结缔组织疾病的患者。如果考虑IV型埃勒斯-当洛综合征的诊断，在回顾性研究中，波浪指数可能是异常的一个有用的定性指标。
