遺伝性血管性浮腫およびEhlers-Danlos症候群の患者における腹部および関節の再発性の腫脹および疼痛．

Recurrent swelling and pain in the abdomen and joints in a patient with hereditary angioedema and Ehlers-Danlos syndrome.

• My-Trang Thi Dang
• Andrew Ambort
• Annie Arrey-Mensah

抄録

23歳の女性が，小児期からの粘膜感染症の既往を伴う腹部，皮膚，関節の腫脹と疼痛の再発を訴え，アレルギー・免疫科クリニックに紹介された．既往歴と臨床所見は、遺伝性血管性浮腫（HAE）とエーラーズ・ダンロス症候群（EDS）という2つの稀で複雑な疾患を示唆していた。彼女の再発する腹痛と関節痛のエピソードは、当初、食道炎、うつ病、慢性疼痛症候群などのより一般的な診断と誤認されていた。しかし、HAEとEDSの併存が診断の遅れの一因となっている可能性が高い。彼女は、C4とC1-エステラーゼ阻害剤（C1-INH）の持続的に低いレベルを持ち、C1-エステラーゼ機能は低～正常、C1Qは正常、C1Q抗体はなかった。小児期から再発した肩の亜脱臼を伴う関節の伸展性の増加はEDSの症状であった。EDSの遺伝子変異は確認されていなかったが，臨床表現型に基づいて遺伝学者によって診断が確定された．HAEとEDSの診断が下される前に、この患者はこれらの再発症状のために少なくとも年間100回の救急外来への通院を経験していた。C1-INH補充療法を開始してから、その頻度は10倍に減少した。また、生活の質が70％改善したことも報告されています。これらの稀な疾患に精通していることは、医療提供者がHAEとEDSを認識し、鑑別診断の一部として含めるのに役立つであろう。これらの慢性疾患はいずれもQOLの低下と関連しているため、早期診断は患者の幸福のために重要である。さらに、適切な診断は、誤診による不必要な処置を防ぐことで、医療費の削減にもつながります。適切な治療は、入院を減らし、生命を脅かす結果（HAEの致命的な喉頭発作による窒息やEDSの動脈瘤破裂など）を回避するのに役立ちます。

A 23-year-old woman was referred to the allergy and immunology clinic for recurrent abdominal, cutaneous and joint swelling and pain with a history of mucosal infections since childhood. Her history and clinical findings were suggestive of two rare and complex disorders, hereditary angioedema (HAE) and Ehlers-Danlos syndrome (EDS). Her recurrent episodes of abdominal and joint pain were initially misattributed to more common diagnoses such as esophagitis, depression and chronic pain syndrome. However, the coexistence of HAE and EDS likely contributed to a delay in diagnoses as the combination of these two rare but overlapping disorders is less understood by physicians. She had persistently low levels of C4 and C1-esterase inhibitor (C1-INH) with low to low-normal C1-esterase function, normal C1Q and no C1Q antibodies. In the setting of recurrent abdominal pain with cutaneous swelling, this supported the diagnosis of HAE type I. The increase in joint extensibility with recurrent shoulder subluxations since childhood was a manifestation of EDS. Although no known genetic mutations were identified for EDS, her diagnosis was confirmed by a geneticist based on her clinical phenotype. Before the diagnosis of HAE and EDS, our patient had at least 100 visits/year to the emergency department/hospitalisations for these recurrent symptoms. After starting on C1-INH replacement therapy, the frequency has decreased 10-fold. She also noted a 70% improvement in her quality of life. Familiarity with these rare disorders will assist healthcare providers in recognising HAE and EDS and include them as part of their differential diagnoses. Early diagnosis is important for a patient's well-being as both these chronic disorders have been associated with poor quality of life. Additionally, proper diagnoses will reduce healthcare costs by preventing unnecessary procedures due to misdiagnoses. Proper treatment will help to decrease hospitalisations and avoidance of life-threatening consequences (such as asphyxiation from fatal laryngeal attacks of HAE and rupture of aneurysms in EDS).

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