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Pulmonary veno-occlusive disease in Sjogren's syndrome: a case report

Xiaofang Zeng1,2, Qiong Liu1, Anandharajan Rathinasabapathy3

  • 1Department of Cardiology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China.

BMC Pulmonary Medicine
|January 18, 2023
PubMed

Insights

This study reports a rare case of pulmonary veno-occlusive disease in a patient with Sjogren's syndrome-associated pulmonary arterial hypertension, linked to a novel EIF2AK4 mutation. PAH-targeted therapies were effective and well-tolerated.

Area of Science:

  • Cardiology
  • Genetics
  • Rheumatology

Background:

  • Pulmonary arterial hypertension (PAH) in connective tissue disease (CTD) is Group 1 pulmonary hypertension.
  • Pulmonary veno-occlusive disease (PVOD) is rare in CTD-PAH, especially Sjogren's syndrome (SS).

Observation:

  • A 28-year-old female presented with dyspnea, pulmonary artery dilatation, and ground-glass nodules.
  • Right heart catheterization confirmed pulmonary hypertension (mean PAP 62 mmHg).
  • Genomic analysis revealed a novel EIF2AK4 mutation (c.1021 C>T), the primary cause of PVOD.

Findings:

  • Histology showed pulmonary vein stenosis and occlusion.
  • The patient exhibited dry eyes and Raynaud's phenomenon, confirming SS via labial salivary gland biopsy.
  • A novel biallelic EIF2AK4 mutation was identified in the SS-PAH patient with PVOD.

Implications:

  • PAH-targeted therapies (tadalafil, macitentan) combined with hydroxychloroquine were administered.
  • The patient's condition remained stable with no pulmonary edema over three years.
  • This case highlights the successful management of SS-PAH with PVOD using targeted therapies and identifies a novel EIF2AK4 mutation.
Abstract

Keywords:
EIF2AK4Sjogren’s syndromepulmonary arterial hypertensionpulmonary veno-occlusive disease

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