Trevise Luana A, Lopes Vieira Pinto Melissa P, Hasselmann Gabriela, Lammoglia Bruna C, Leal Thatiany P, Salles Rosa Neto Nilton
Rheumatology, Universidade Santo Amaro, São Paulo, BRA.
Center for Rare and Immune Disorders, Hospital Nove de Julho, São Paulo, BRA.
Cureus. 2023 Aug 24;15(8):e44020. doi: 10.7759/cureus.44020. eCollection 2023 Aug.
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant vascular dysplasia in which disrupted angiogenesis leads to increased formation of mucocutaneous telangiectasias or major vascular malformations. Iron deficiency anemia and recurrent abscesses are commonly reported in these patients, reinforcing screening and targeted therapies for these conditions. We report a 50-year-old man with HHT affected by repeated episodes of iron deficiency anemia secondary to recurrent epistaxis requiring frequent intravenous iron infusions. He eventually developed hypophosphatemia and hyperphosphaturia secondary to ferric carboxymaltose. He also had a history of recurrent multifocal abscesses, including a severe presentation of necrotizing fasciitis, requiring multiple surgical interventions. Despite the identification of hypogammaglobulinemia, only after consistent dental treatment and antibiotic prophylaxis did the abscesses stop recurring. We highlight the need for careful consideration of all possible complications inherent to the disease itself but also those related to comorbidities or existing treatments.
遗传性出血性毛细血管扩张症(HHT)是一种罕见的常染色体显性血管发育异常疾病,其中血管生成紊乱会导致黏膜皮肤毛细血管扩张或主要血管畸形的形成增加。这些患者常报告有缺铁性贫血和反复脓肿,这加强了对这些病症的筛查和靶向治疗。我们报告了一名50岁的HHT男性患者,因反复鼻出血继发缺铁性贫血而反复发作,需要频繁静脉输注铁剂。他最终因羧麦芽糖铁继发出现低磷血症和高磷尿症。他还有反复多灶性脓肿病史,包括一次严重的坏死性筋膜炎发作,需要多次手术干预。尽管发现了低丙种球蛋白血症,但只有在进行持续的牙科治疗和抗生素预防后,脓肿才停止复发。我们强调需要仔细考虑该疾病本身固有的所有可能并发症以及与合并症或现有治疗相关的并发症。