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

The researchers highly pointed location of the EIF2AK4 mutation may be responsible for the different responses to targeted therapy and disease phenotypes.

The case report is published in BMC Pulmonary Medicine.

It is already known that Pulmonary arterial hypertension or PAH is associated with connective tissue disease (CTD) belongs to Group 1 pulmonary hypertension.

PVOD, characterized by venous system aberrations, has been previously reported in CTD-PAH, but its association with SS (Sjoger's Syndrome) has rarely been reported.

Zeng et al. and colleagues presented this rare case report.

The summary points of the case report include the following:

• A female aged 28 years was hospitalized with complaints of recurrent shortness of breath even after minimal physical activity.
• She also presented with dry eyes and Raynaud's phenomenon.
• Pulmonary artery dilatation and bilateral ground-glass nodules were seen in a chest high-resolution CT scan.
• Pulmonary hypertension was confirmed in right heart catheterization.
• The mean pulmonary arterial pressure was 62 mmHg.
• EIF2AK4 mutation at c.1021 C > T (p. Gln341*) was identified in the genomic assessment. This is the dominant causal gene of PVOD.
• Stenosis and occlusions in the pulmonary veins were seen in histological examination.
• SS was confirmed in a biopsy of the labial salivary gland.
• The treatment plan included PAH-targeted therapies, namely tadalafil and macitentan, in combination with hydroxychloroquine.

The researchers said though she was admitted several times due to acute PAH exacerbation, the progression of the disease was under control.

They said we do not report any sign of pulmonary oedema after three year treatment period.

Further reading:

Zeng, X., Liu, Q., Rathinasabapathy, A. et al. Pulmonary Veno-occlusive disease in Sjogren's syndrome: a case report. BMC Pulm Med 23, 26 (2023). https://doi.org/10.1186/s12890-023-02322-w