Author:
Zeng Xiaofang,Liu Qiong,Rathinasabapathy Anandharajan,Zha Lihuang,Liu Dongliang,Tang Yiyang,Sun Jing,Luo Hui,Yu Zaixin
Abstract
Abstract
Background
Pulmonary arterial hypertension (PAH) associated with connective tissue disease (CTD) belongs to Group 1 pulmonary hypertension. Pulmonary veno-occlusive disease (PVOD), which is characterized by venous system aberrations, has been previously reported in CTD-PAH; however, it has rarely been observed in Sjogren’s syndrome (SS).
Case presentation
Our 28-year-old female patient was admitted to the hospital with recurrent shortness of breath even after minimal physical activity. Her chest high-resolution CT scan demonstrated pulmonary artery dilatation and bilateral ground-glass nodules. A subsequent right heart catheterization confirmed pulmonary hypertension because her mean pulmonary arterial pressure was 62 mmHg. Our inquisitive genomic assessment identified a novel EIF2AK4 mutation at c.1021 C > T (p. Gln341*), the dominant causal gene of PVOD. Histological examination demonstrated stenosis and occlusions in the pulmonary veins. Because she presented with features such as dry eyes and Raynaud's phenomenon, we performed a biopsy on the labial salivary gland, which confirmed SS. Her treatment regimen included PAH-targeted therapies (tadalafil and macitentan) in combination with hydroxychloroquine. Although she was hospitalized several times due to acute exacerbation of PAH, her disease progression was under control, and she did not demonstrate any signs of pulmonary edema even after a three-year treatment period.
Conclusion
Here, we report the case of an SS-PAH patient with PVOD who carried a novel biallelic EIF2AK4 mutation, and PAH-targeted therapies were well tolerated by our patient.
Funder
National Natural Science Foundation of China
Key Research and development program of Hunan Province
Fundamental Research Funds for the Central Universities of Central South University
VUMC Faculty Research Scholars grant
Natural Science Foundation project of Hunan province
Publisher
Springer Science and Business Media LLC
Subject
Pulmonary and Respiratory Medicine
Cited by
1 articles.
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