Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy
Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy
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DOI：
10.5152/dir.2017.17019
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发表时间：
2017-11-01
影响因子：
2.1
通讯作者：
Akinci, Baris
中科院分区：
文献类型：
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作者：
Altay, Canan;Secil, Mustafa;Akinci, Baris
目的我们旨在通过全身磁共振成像研究残留脂肪组织，以区分脂肪营养不良的亚型。方法共有 32 名患者，其中 12 名患有先天性全身性脂肪营养不良 [CGL]，1 名患有获得性全身性脂肪营养不良 [AGL]，12 名患有家族性部分脂肪营养不良 [FPLD]，7 名患有获得性部分脂肪营养不良 [APL]）结果 尽管代谢活跃的脂肪组织普遍丧失，但 AGPAT2 突变引起的 CGL1 患者在头皮、耳垂、眼眶后区域以及手掌和脚底仍有大量残留脂肪组织。在由 BSCL2 突变引起的 CGL2 中，特别是在头颈、手掌和足底，没有发现残留脂肪组织。由 PTRF 基因突变引起的 CGL4 的特点是眼眶后和骨髓脂肪保存完好，而其他区域没有任何可见的残留脂肪组织。 AGL 中未观察到残留脂肪组织。尽管皮下脂肪减少，但 FPLD 患者的下肢仍保留了关节周围脂肪组织。尽管 APL 缺乏头部和颈部脂肪，但令人惊讶的是，眼眶后脂肪组织得以保留。 结论 脂肪营养不良是一组异质性疾病，其特征是脂肪组织全面或部分丧失，可以是先天性的，也可以是后天性的。我们的结果表明，残余脂肪组织特征可以帮助区分脂肪营养不良的不同亚型。
PURPOSEWe aimed to investigate residual adipose tissue with whole-body magnetic resonance imaging to differentiate between subtypes of lipodystrophy.METHODSA total of 32 patients 12 with congenital generalized lipodystrophy [CGL], 1 with acquired generalized lipodystrophy [AGL], 12 with familial partial lipodystrophy [FPLD], and 7 with acquired partial lipodystrophy [APL]) were included.RESULTSDespite generalized loss of metabolically active adipose tissue, patients with CGL1 caused by AGPAT2 mutations had a significant amount of residual adipose tissue in the scalp, earlobes, retro-orbital region, and palms and soles. No residual adipose tissue was noted particularly in the head and neck, palms and soles in CGL2 caused by BSCL2 mutations. CGL4 caused by mutations in the PTRF gene was characterized with well-preserved retro-orbital and bone marrow fat in the absence of any visible residual adipose tissue in other areas. No residual adipose tissue was observed in AGL. Despite loss of subcutaneous fat, periarticular adipose tissue was preserved in the lower limbs of patients with FPLD. Retro-orbital adipose tissue was surprisingly preserved in APL, although they lacked head and neck fat.CONCLUSIONLipodystrophies are a heterogeneous group of disorders characterized by generalized or partial loss of adipose tissue, which can be congenital or acquired. Our results suggest that residual adipose tissue characteristics can help distinguish different subtypes of lipodystrophy.