반복적인 유리체출혈로 진단한 여성 혈우병 = Hemophilia A in a Female Patient with Recurrent Vitreous Hemorrhage

다국어 초록 (Multilingual Abstract)

Purpose: To report a case of recurrent intraocular hemorrhage due to type A hemophilia in a female patient without any previous medical history.
Case summary: A 51-year-old female patient without any previous medical history was referred to our clinic due to blurred vision in her left eye. Slit lamp microscopy of the anterior segment was nonspecific. Fundus examination revealed vitreous hemorrhage with retinal tear in her left eye. Vitrectomy and cataract surgery were performed. One day after surgery, hyphema and vitreous hemorrhage recurred. A coagulation disorder was suspected and further serological evaluation was conducted. Coagulation factor analyses showed that the activity of coagulation factors 8 and 12 decreased to 25% and 47%, respectively. Genetic sequence analyses were conducted, and a missense mutation of C6724G> A] was found in exon 25, and type A hemophilia was confirmed.
Conclusions: In patients who tend to show persistent bleeding even after proper treatment, hematological evaluation including coagulation factor assays, and the possibility of rare diseases such as hemophilia should be considered.

국문 초록 (Abstract)

목적: 저자들은 특이 과거력이 없는 여성에서 A형 혈우병에 의하여 발생한 반복적인 안구내 출혈 1예를 경험하였기에 이를 보고하고자 한다.
증례요약: 이전 내과적 과거력이 없는 51세 여자가 4일 전부터 발생한 좌안의 시력저하 소견으로 본원 안과에 의뢰되었다. 세극등현미경검사에서 전안부의 특이 소견은 관찰되지 않았다. 안저검사에서 좌안 유리체출혈 소견이 관찰되어 유리체절제술 및 백내장수술을 시행하였다. 수술 후 1일 전방출혈 및 유리체출혈이 재발하였다. 이에 혈액응고장애를 의심하여 시행한 검사에서 Factor 8 및 Factor 12가 각각 25%, 47%로 저하되어 있는 소견을 보였다. 유전자 서열 변이 분석 결과상 Exon25에 c.6742G<A인 missense mutation 소견을 보여 A형 혈우병이 확진되었다.
결론: 출혈경향을 보이는 여자 환자에서 적절한 치료 후에도 bleeding tendency가 지속되는 경우 혈액내과 진료 및 Coagulation Factor Assay가 필요하며, Hemophilia 등의 드문 질환들도 고려해야 하겠다.

참고문헌 (Reference)

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