Porto-Sinusoidal Vascular Disorder: An Under-Recognized Liver Manifestation in Turner Syndrome

TL;DR

Turner syndrome patients may experience liver issues due to a rare vascular disorder called PSVD, which requires careful evaluation.

Contribution

This paper highlights PSVD as an under-recognized liver manifestation in Turner syndrome.

Findings

Liver enzyme elevation in Turner syndrome can be caused by porto-sinusoidal vascular disorder.

PSVD diagnosis in Turner syndrome may be predicted by absence of cardiometabolic risk factors and low liver stiffness.

Liver pathology in Turner syndrome is broader than previously understood and needs thorough evaluation.

Abstract

Background/Objectives: Turner syndrome (TS) is a genetic chromosomal disorder including various manifestations depending on the karyotype; endocrine, gastrointestinal, respiratory, neurological, urogenital, musculoskeletal, and cardiovascular disorders contribute to increased morbidity and mortality. Liver function abnormalities are less well studied and mostly associated with insulin resistance, obesity, diabetes, hypogonadism, hypothyroidism, and autoimmune conditions. The association of liver pathology with architectural changes in various etiologies and the metabolic dysfunction-associated liver disease is of particular interest. Methods: Herein, we present three cases of adult women with TS and the persistent elevation of liver enzymes due to porto-sinusoidal vascular disorder (PSVD). Results: In one case, the diagnosis of TS followed the liver biopsy results. The absence of cardiometabolic risk factors, low liver stiffness and cardiovascular malformations may predict this histological diagnosis. Conclusions: Liver function impairment in TS may derive from a broad spectrum of liver pathology, including PSVD, and requires careful evaluation to decrease the risk of complications.

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