Department of Medical Genetic, Kütahya Health Science University, Kütahya, Turkey.
Liv Hospital Bahçeşehir, Department of Rheumatology, İstinye University, Istanbul, Turkey.
J Clin Ultrasound. 2023 May;51(4):715-722. doi: 10.1002/jcu.23409. Epub 2022 Nov 30.
The most significant complication in familial mediterranean fever (FMF) patients is dysfunction and organ failure developing depending on amyloid deposition in organs. The golden standard for showing amyloid deposition is the biopsy; however, tissue stiffness was examined by shear wave elastography as a non-invasive method in a restricted number of studies conducted, and it is considered that amyloid deposition can be shown indirectly. In our study, we aimed to indirectly evaluate amyloid deposition in organs with Shear wave and Doppler ultrasonography and to reveal its relationship with MEFV gene mutation analysis.
42 FMF patients with normal thyroid and renal function tests and 35 participants with no FMF symptoms were included in our study. FMF patients were grouped depending on their MEFV mutation analyses. Thyroid, salivary glands, and renal parenchymal tissue stiffness were evaluated by shear wave elastography. Thyroidal artery and both renal artery resistances were evaluated by Doppler ultrasonography.
Both parotis gland, thyroid and renal parenchymal stiffness and arterial vascular resistances in the patient group were found higher than the control group. A significant difference was not found in any parameters in classification based on gender. Tissue stiffness and vascular resistance values in the patient group with M694V homozygote mutation were found statistically significantly higher than the other mutation groups (p < 0.001).
Our study shows that identifying genetic mutation type in FMF patients will help determine possibly amyloidosis risk. Imaging of tissue stiffness by shear wave elastography and evaluation of vascular resistance by Doppler can be useful for routine screening of those patients.
家族性地中海热（FMF）患者最严重的并发症是由于器官内淀粉样物质沉积导致的功能障碍和器官衰竭。显示淀粉样物质沉积的金标准是活检；然而，在少数研究中，已经通过剪切波弹性成像检查了组织硬度作为一种非侵入性方法，并且认为可以间接显示淀粉样物质沉积。在我们的研究中，我们旨在通过剪切波和多普勒超声间接评估器官中的淀粉样物质沉积，并揭示其与 MEFV 基因突变分析的关系。
本研究纳入了 42 例甲状腺和肾功能检查正常的 FMF 患者和 35 例无 FMF 症状的参与者。根据 MEFV 基因突变分析将 FMF 患者分为不同组。通过剪切波弹性成像评估甲状腺、唾液腺和肾实质组织硬度。通过多普勒超声评估甲状腺内动脉和双侧肾动脉阻力。
患者组的腮腺、甲状腺和肾实质的硬度以及动脉血管阻力均高于对照组。基于性别进行分类时，各参数之间无显著差异。M694V 纯合子突变患者的组织硬度和血管阻力值明显高于其他突变组（p<0.001）。
本研究表明，在 FMF 患者中确定基因突变类型将有助于确定可能的淀粉样变性风险。剪切波弹性成像的组织硬度成像和多普勒评估的血管阻力可以为这些患者的常规筛查提供帮助。
