A 46-year-old woman with a diagnosis of PED since she was 14 years old.
Patient with cirrhosis develops 19 years after progression.
As a background of interest, episodes of congenital stasis during pregnancy were diagnosed, with alterations in prothrombin activity corrected with vitamin K and intrauterine dead fetus at 38 weeks.
Continuous mild seizure that refers to greater intensity on ovulation and episodes of greater pruritus associated with acholia (2 or 3 puddings a year) and weight loss, lasting approximately one month.
Currently under treatment with Ursochol® 900 mg daily, asymptomatic except occasional periods of self-limiting night pruritus.
Analytically it has to present during pregnancy ALT of 200 U/l, alkaline phosphatase up to 800 U/l, with AST around 70 U/l and normal GGT.
Transaminase (AST), ALT and GGT) are currently within normal limits, alkaline phosphatase 153 U/l and total bilirubin 1.3 mg/dl.
The last ultrasound examination showed a liver of normal size and morphology, with regular borders and homogeneous structure, with normal echoportal axis and permeable, non-dilated suprahepatic veins.
Vesicle with lithiasis in its interior, with biliary tracts nonexistent.
A genetic study was carried out in which two heterozygous mutations in the ABCB11 gene were detected: one in exon 8, a T>C change in the nucleotide 698, which leads to a substitution.
The other mutation resides in exon 27: nucleotide 3933, transition C>A, which supposes the substitution of tyrosine 1311 by a stop codon (Y1311X).
These data are compatible with liver disease due to deficiency in the bile salt transport protein (BSEP).
We propose to the patient the genetic study of her children and her brother due to the lack of clinical-genetic correlation with her initial diagnosis and family history, but the patient rejects this possibility.
