We report the case of a 48-year-old man with a family history of a mother who died of nonspecific chronic liver disease progressing to liver cirrhosis and a sister with an unrelated liver disease.
His personal history included hepatitis C (HCV) genotype 1b with no response to peginterferon α-2a and ribavirin on two occasions.
Besides, recurrent nephritic colic.
In February 2011, the patient presented an episode of intense pruritus and epigastric pain.
The most notable analytical values were AST 145 U/L (0-37 U/L), ALT 121 U/L (0-37 U/L as viral protein, bilirubinase (6-50 IU/L), alkaline phosphatase 116 U/L (50-190 U/L).
The following were performed: gastrointestinal ultrasound, which did not show evidence of space or dilatation of the bile ducts. A bile duct showed no conclusive data of biliary cholangiolithiasis. Endoscopy showed hepatolithiasis or bile duct stones.
Liver biopsy revealed grade 3 fibrosis according to METAVIR compatible with hepatitis C, with no other remarkable changes.
A year later, the patient returned to the doctor's office with similar characteristics (jaundice, pruritus and epigastric pain). UDCA was prescribed due to recurrence, with rapid improvement of symptoms.
The recurrent clinical picture and the absence of etiologic cause were diagnosed as LPAC syndrome.
A sample was sent to the University Hospital La Paz (Madrid) for immunohistochemical study of liver biopsy, observing a normal canicular expression of DRD3.
Subsequently, the ABCB4 gene coding sequence was not studied by DNA mutation in peripheral blood lymphocytes in the Saint-Antoine University Hospital (París) using the Roche 454 GS Junior PCR sequence neither.
persistence of the clinical suspicion in La Paz Hospital was analyzed again the gene ABCB4 this time with the technique MLPA® (Multiplex Ligation-dependent Probe).
The patient sample was compared with a sample of his sister (control 1) and a healthy individual (control 2).
A heterozygous mutation was identified by the deletion of a gene fragment containing the complete exon 4, compatible with a partial deficiency of MDR3 (10), confirming the diagnosis of ACL.
