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Estradiol regulation in porto-sinusoidal vascular disease
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Porto-sinusoidal vascular disease (PSVD) is a rare disease (Schouten et al., 2015), affecting less than 1 in 2000 citizens (European standard) (Griffon et al., 2016). It is characterized by signs of presinusoidal portal hypertension without cirrhosis, where the cause of the hypertension is unknown (Lee et al., 2016; Schouten et al., 2011). Based on that what is known about the etiology of PSVD, its development can be categorized into five groups: immunological disorders, chronic infections, exposure to medications or toxins, prothrombic conditions, and genetic predisposition (Schouten et al., 2015). In practice, the disease has multiple contributing factors (Siramolpiwat et al., 2016).
This pathway describes a mutation in the KCNN3 gene that is hypothesized to result in genetic predisposition to PSVD (Koot et al., 2016). PSVD has also been referred as idiopathic non-cirrhotic portal hypertension (INCPH), hepatoportal sclerosis, incomplete septal cirrhosis, obliterative portal venopathy, partial nodular transformation, non-cirrhotic portal fibrosis, nodular regenerative hyperplasia (NRH), and idiopathic portal hypertension (Schouten et al., 2015; Siramolpiwat et al., 2016; Besmond et al., 2017).
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