Westphal Dominik S, Bergmann Katharina, Martens Eimo, Ibrahim Tareq
Department of Internal Medicine I, Klinikum rechts der Isar, School of Medicine, Technical University Munich, Ismaninger Str. 22, 81675 Munich, Germany.
Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University Munich, Trogerstr. 32, 81675 Munich, Germany.
Eur Heart J Case Rep. 2021 Nov 8;5(11):ytab451. doi: 10.1093/ehjcr/ytab451. eCollection 2021 Nov.
Most cases of lymphoedema are secondary to other causes, while cases of primary lymphoedema, in particular that of congenital origin, are uncommon. Limited genetic disorders are so far known to be associated with lymphatic malformation including mutations in . This clinical case highlights the possible complications of -associated lymphatic malformation in a female suffering from recurrent life-threatening septic lymphangitis.
A 23-year-old female patient presented with congenital lymphoedema of the lower right extremity. At the age of eight, she first suffered from an episode of lymphangitis. Thereafter, she developed recurrent episodes of lymphangitis predominately occurring during menstruation and culminating into severe and life-threatening septicaemias. Due to the menstrual association, endometriosis was suspected but could not be confirmed. Furthermore, angiography could not detect any sign of arteriovenous fistula. Single-Photon-Emission-Computed-Tomography confirmed absent major lymphatics of the right leg with severely impaired and prolonged dermal lymphatic backflow. Genetic testing identified a disease-causing variant in the gene.
To our knowledge, this is the first case of recurrent septic lymphangitis with close relation to menstruation in a female with -associated lymphatic malformation. Due to the possible or somatic origin of a pathogenic variant, a genetic disease should be considered in spite of an unremarkable family history or a localized lymphoedema. Although there is no curative therapy available yet, the knowledge of the underlying genetic defect is important for interdisciplinary patient care and might be crucial for individual molecular therapies in the future.
大多数淋巴水肿病例继发于其他原因，而原发性淋巴水肿病例，尤其是先天性起源的病例并不常见。迄今为止，已知有限的遗传疾病与淋巴管畸形有关，包括 中的突变。本临床病例突出了一名患有复发性危及生命的败血症性淋巴管炎的女性患者中与 相关的淋巴管畸形可能出现的并发症。
一名23岁女性患者出现右下肢先天性淋巴水肿。8岁时，她首次患上淋巴管炎。此后，她反复出现淋巴管炎发作，主要发生在月经期间，并最终发展为严重的、危及生命的败血症。由于与月经有关，怀疑有子宫内膜异位症，但无法确诊。此外，血管造影未发现任何动静脉瘘的迹象。单光子发射计算机断层扫描证实右腿主要淋巴管缺失，皮肤淋巴回流严重受损且延长。基因检测在 基因中发现了一个致病变异。
据我们所知，这是第一例与 相关的淋巴管畸形女性患者中与月经密切相关的复发性败血症性淋巴管炎病例。由于致病变异可能是遗传性的或体细胞起源的，尽管家族史不明显或为局限性淋巴水肿，也应考虑遗传疾病。虽然目前尚无治愈性疗法，但了解潜在的基因缺陷对于跨学科患者护理很重要，并且可能对未来的个体化分子治疗至关重要。
