Department of Plastic Surgery, Ninewells Hospital, Dundee, United Kingdom.
Department of Plastic Surgery, Ninewells Hospital, Dundee, United Kingdom.
J Plast Reconstr Aesthet Surg. 2014 Feb;67(2):e54-7. doi: 10.1016/j.bjps.2013.09.001. Epub 2013 Sep 18.
Congenital analbuminaemia is a very rare autosomal dominant disorder in which patients have no serum albumin and markedly low serum total protein concentration. Clinically patients present with mild oedema, hypotension, fatigue and lipodystrophy often with abnormal body habitus. With only around 50 reported cases in the literature worldwide, management of the resulting lipodystrophy remains unclear. A 42-year-old male who was diagnosed with congenital analbuminaemia presented with bilateral lower limb lipodystrophy disproportionately affecting his thighs. This was associated with concerns over appearance, difficulties with mobility and finding clothing. He successfully underwent bilateral lower leg liposuction and has had no recurrence of his symptoms after 12 months. We have demonstrated that liposuction along with controlled compression therapy is a safe and effective treatment for managing lipodystrophy secondary to congenital analbuminaemia. Although rare, clinicians need to be aware that liposuction is a successful treatment modality, which should be made available to this select group of patients.
先天性无白蛋白血症是一种非常罕见的常染色体显性遗传疾病，患者血清白蛋白和总蛋白浓度明显降低。临床上，患者表现为轻度水肿、低血压、疲劳和脂肪营养不良，常伴有异常的体型。由于全世界仅有约 50 例报告病例，因此对于由此导致的脂肪营养不良的管理仍不清楚。一位 42 岁的男性被诊断出患有先天性无白蛋白血症，出现双侧下肢脂肪营养不良，大腿部位受影响不成比例。这与对外貌的担忧、行动不便和寻找衣服的困难有关。他成功地接受了双侧小腿抽脂术，并且在 12 个月后没有再次出现症状。我们已经证明，抽脂术联合控制压缩疗法是治疗先天性无白蛋白血症引起的脂肪营养不良的一种安全有效的治疗方法。尽管罕见，但临床医生需要意识到抽脂术是一种成功的治疗方法，应该为这一特定患者群体提供。
