LPAC syndrome: case report and literature review

K.Krati(1), H. Sghir(1), Y.dannouni(1), I.Haraki(1), K. Benjaoaud(1), A.Ait Errami(1),
S.Oubaha(2), Z. Samlani(1)
Page No. 17-21

LPAC syndrome (Low Phospholipid-Associated Cholelithiasis) is a particular form of intrahepatic
cholestasis, occurring in young adults. It is characterized by at least two of the following criteria:
(1) onset of symptoms before age 40; (2) presence on ultrasound of echogenic foci or intrahepatic
microlithiasis; (3) recurrence of symptoms after cholecystectomy. It is secondary to a deficiency of
the phospholipid transporter the MDR3 protein. The majority of cases are under diagnosed. In our
observation, we report the case of a patient with LPAC syndrome, diagnosed 20 years after the
onset of symptoms. This is a 51-year-old patient with chronic intermittent hepatic colic since the
age of 30, a cholecystectomy for acute cholecystitis in 1999. At the age of 32 years the patient
reports the recurrence of the symptomatology with the ultrasound lithiasis of the common bile duct,
so the patient has benefited from a surgical extraction of the lithiasis of the common bile duct.The
evolution was marked by persistent symptomatology, repeated episodes of cholangitis, iterative
para-clinical examinations and demanding hospitalizations. Face to this clinical presentation and a
negative etiological assessment , a genetic study for mutational research of hepatobiliary
transporter genes has been proposed. This objectified the presence of the false sense variant of the
ABCB4 / MDR 3 gene in the heterozygous state. The diagnosis of LPAC syndrome is retained and
the patient is put under AUDC. The evolution is marked by a clinical improvement
Keywords :LPAC, intrahepatic cholestasis, ABCB4/MDR3 gene