Villanueva B, Cañabate A, Torres-Iglesias R, Cerdà P, Gamundí E, Ordi Q, Alba E, Sanz-Astier L A, Iriarte A, Ribas J, Castellote J, Pintó X, Riera-Mestre A
HHT Unit. Hospital Universitari Bellvitge, C/Feixa Llarga S/N. L'Hospitalet de Llobregat, 08907, Barcelona, Spain.
Internal Medicine Department, Hospital Universitari Bellvitge, Barcelona, Spain.
Orphanet J Rare Dis. 2024 Dec 21;19(1):484. doi: 10.1186/s13023-024-03493-3.
Hereditary hemorrhagic telangiectasia (HHT) is characterized by telangiectasia and larger vascular malformations. Liver malformations are the most frequent visceral involvement including the presence of portosystemic malformations (PSM) that can cause hepatic encephalopathy. Minimal hepatic encephalopathy (mHE) is characterized by alterations of brain function in neuropsychological or neurophysiological tests and decreases quality of life. The evidence of mHE in HHT patients is scarce. The aim of this study is to assess the prevalence and health impact of mHE in patients with and without PSM.
We performed a cross-sectional observational study in a cohort of patients from an HHT referral unit. Adult patients with definite HHT and PSM and age and sex matched HHT controls without PSM (1:1) were included. Baseline clinical, imaging and laboratory tests and different neuropsychological tests for the screening of mHE were compared between both groups.
Eighteen patients with PSM and 18 controls out of 430 HHT patients were included. Patients with PSM showed higher prevalence of attention disturbances (50% vs. 11.1%, p = 0.027), falls during last 12 months (22.2% vs. 5.6%, p = 0.338), sleep disorders (50% vs. 16.7%, p = 0.075) and a worst performance in s-ANT1 test (14 vs. 19.5 points score, p = 0.739) than HHT controls.
HHT patients with PSM showed higher attention difficulties than HHT controls, though both PSM and HHT controls showed findings of mHE. Specific neuropsychological tests for early detection of mHE should be considered in HHT patients.
遗传性出血性毛细血管扩张症（HHT）的特征为毛细血管扩张和较大的血管畸形。肝脏畸形是最常见的内脏受累情况，包括存在可导致肝性脑病的门体分流畸形（PSM）。轻微肝性脑病（mHE）的特征是在神经心理学或神经生理学测试中脑功能改变，并降低生活质量。HHT患者中mHE的证据很少。本研究的目的是评估有和没有PSM的患者中mHE的患病率及其对健康的影响。
我们对来自HHT转诊单位的一组患者进行了横断面观察性研究。纳入确诊为HHT且患有PSM的成年患者以及年龄和性别匹配的无PSM的HHT对照（1:1）。比较两组之间的基线临床、影像学和实验室检查以及用于筛查mHE的不同神经心理学测试。
在430例HHT患者中，纳入了18例患有PSM的患者和18例对照。与HHT对照相比，患有PSM的患者出现注意力障碍的患病率更高（50%对11.1%，p = 0.027）、过去12个月内跌倒的发生率更高（22.2%对5.6%，p = 0.338）、睡眠障碍的发生率更高（50%对16.7%，p = 0.075），并且在s-ANT1测试中的表现更差（得分分别为14分和19.5分，p = 0.739）。
患有PSM的HHT患者比HHT对照表现出更高的注意力困难，尽管PSM患者和HHT对照均显示出mHE的表现。对于HHT患者，应考虑采用特定的神经心理学测试来早期检测mHE。
