山口 和磨¹, 斎藤 聡², 伝法 秀幸¹, 井上 淑子¹, 窪田 幸一¹, 木脇 圭一³

Kazuma YAMAGUCHI¹, Satoshi SAITO², Hideyuki DENPO¹, Yoshiko INOUE¹, Koichi KUBOTA¹, Keiichi KINOWAKI³

¹虎の門病院分院臨床検査部, ²虎の門病院肝臓センター, ³虎の門病院病理診断科

¹Department of Clinical Laboratory, Toranomon Hospital Kajigaya, ²Department of Hepatology, Toranomon Hospital, ³Department of Pathology, Toranomon Hospital

キーワード : hereditary hemorrhagic telangiectasia, focal nodular hyperplasia, contrast enhanced ultrasonography, Sonazoid, Gd-EOB-DTPA

遺伝性出血性末梢血管拡張症（hereditary hemorrhagic telangiectasia：HHT）は常染色体優性遺伝の全身性血管疾患である．今回，限局性結節性過形成（focal nodular hyperplasia：FNH）を伴ったHHTの長期経過観察をしえた1例を報告する．60歳代女性．主訴はなし．幼少期より鼻出血を繰り返しており，他院にて肝内腫瘤が疑われ，2006年に当院紹介となった．家族鼻出血歴あり．入院時血液検査は肝炎ウイルスマーカー，腫瘍マーカー陰性であった．腹部超音波（ultrasonography：US）は，肝全域に著明な門脈，肝静脈の拡張，コイル状肝動脈管拡張，多発シャント像，および境界不明瞭な不整形腫瘤を多数認めた． 最大径腫瘤（S8）は，カラードプラにてspoke-wheel-pattern様シグナルを示した．ダイナミックCTでも同様の血管異常を認め，腫瘤は早期相で不均一に造影され，Wash outは認めなかった．腫瘍生検を実施しFNHの診断であった．2007年に最大腫瘤に対し，ペルフルブタン（ソナゾイド）造影検査（contrast-enhanced ultrasonography：CEUS検査）を実施し，早期相で内部不均一濃染を示し，後血管相defectを認めなかった．その後，1年ごとの画像検査では，血管病変に著変は認めなかったが，最大腫瘤はUSとGd-EOB-DTPA造影MRI（EOB-MRI）にて，徐々に縮小し，2015年に消失した．その後，EOB-MRIでは新規出現や縮小等，腫瘤の全体像を把握しえたが，USでは検出できなかった．しかし，2022年のUSで新たに腫瘤が確認され，Full focus機種でCEUS検査を行ったところ，Bモードで指摘できなかった腫瘤も観察しえた．多発FNHを伴うHHTの長期経過を観察しえた．CEUS検査，EOB-MRIは病態全体像の把握に有用である．

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant systemic vascular disease. In this report, we present a case of HHT accompanied by focal nodular hyperplasia (FNH) with long-term follow-up. The patient was a woman in her 60s with no chief complaints, but she had recurrent nosebleeds since childhood. She was referred to our hospital in 2006 after an intrahepatic mass was suspected at another hospital. She had a family history of epistaxis. On admission, hepatitis virus and tumor markers were negative. Abdominal ultrasonography (US) revealed a prominent portal vein, dilated hepatic vein, coiled hepatic duct dilatation, multiple shunts, and multiple masses throughout the liver. Upon performing color Doppler imaging, the largest tumor (S8) showed a spoke-wheel-pattern signal. Dynamic computed tomography also revealed similar vascular abnormalities. The tumor was enhanced in the early phase, but no washout was observed. A biopsy of the tumor confirmed FNH. In 2007, Sonazoid-enhanced US of the largest mass showed enhancement in the early phase, but no defect was noted in the late phase. On annual examinations, vascular lesions remained unchanged, but the largest mass showed regression on US and gadolinium-ethoxybenzyl-diethylenetriamine pentaacetic acid-enhanced magnetic resonance imaging (EOB-MRI) and disappeared in 2015. After its disappearance, EOB-MRI detected emergence and regression of other masses, but not US. However, a new mass was confirmed by US in 2022. Sonazoid contrast-enhanced US was performed using a full-focus device, and a mass that could not be observed previously on B-mode US could now be observed simultaneously. We performed long-term follow-up of HHT accompanied by multiple FNH. Sonazoid-enhanced US and EOB-MRI are useful imaging modalities for multiple evolving tumors.