scholarly journals P-82 URSODEOXYCHOLIC ACID AND/OR CIPROFIBRATE FOR TREATING PATIENTS WITH PRESUMPTIVE DIAGNOSIS OF LOW PHOSPHOLIPID CHOLELITHIASIS, A CLINICAL SPECTRUM OF PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3

2021 ◽  
Vol 24 ◽  
pp. 100445
Author(s):  
Fernanda Linahres ◽  
Debora Terrabuio ◽  
Michelle Braga ◽  
Laura Guedes ◽  
Flair Jose Carrilho ◽  
...  
Author(s):  
Indrajit Suresh ◽  
Lokesh E. ◽  
Amrit Nanaiah ◽  
Soumya Ganesh Nanaiah ◽  
Suhas C. ◽  
...  

Low phospholipid associated cholelithiasis (LPAC) syndrome, first described in 2001, could be the causality in a significant number of young patients with cholelithiasis, who have a recurrence of symptoms despite cholecystectomy. A mutation of the ABCB4/MDR3 gene, causes a disruption in the translocation of phosphatidylcholine, resulting in bile acid mediated biliary tract injury. The ABCB4 gene is also implicated in other diseases such as progressive familial intrahepatic cholestasis type 3, which is greater in severity and tools like genotyping can aid the physician in prognostication, as well as determining the response to medical therapy. A few symptomatic patients develop features of biliary obstruction due to intrahepatic calculi, and they require interventions-which may be endoscopic or surgical in nature. Although a majority of patients with LPAC syndrome respond well to ursodeoxycholic acid (UDCA) therapy, close monitoring is warranted to keep a check on disease progression.


2020 ◽  
Vol 33 (5) ◽  
pp. 665-669
Author(s):  
Aynur Küçükçongar Yavaş ◽  
Büşra Çavdarlı ◽  
Özlem Ünal Uzun ◽  
Ayşen Uncuoğlu ◽  
Mehmet Gündüz

AbstractBackgroundProgressive familial intrahepatic cholestasis type 3 (PFIC3) is an uncommon cholestatic liver disease caused by mutations in the ATP binding cassette subfamily B member 4 (ABCB4) gene. Although PFIC3 is frequently identified in childhood, ABCB4 disease-causing alleles have been described in adults affected by intrahepatic cholestasis of pregnancy, hormone-induced cholestasis, low-phospholipid-associated cholelithiasis syndrome or juvenile cholelithiasis, cholangiocarcinoma and in sporadic forms of primary biliary cirrhosis. Cholestanol is a biomarker which is elevated especially in cerebrotendinous xanthomatosis and rarely in primary biliary cirrhosis (PBC) and Niemann Pick type C.Case presentationHere we report a Turkish patient with compound heterozygous mutations in the ABCB4 gene, who has hepatosplenomegaly, low level of high-density lipoprotein, cholestasis and high level of cholestanol.ConclusionThis is the first PFIC3 case with a high cholestanol level described in the literature. There are very few diseases linked to increased cholestanol levels, two of which are CTX and PBC. From this case, we can conclude that a high cholestanol level might be another indicator of PFIC type 3.


2020 ◽  
Vol 10 (01) ◽  
pp. e134-e136
Author(s):  
Nida Mirza ◽  
Smita Malhotra ◽  
Anupam Sibal

AbstractProgressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive disorders of childhood which presents with intermittent or progressive episodes of cholestasis, with jaundice and pruritus as most common presenting symptoms. PFIC type 3 occurs due to mutations in the ABCB4 gene, mutation in this gene has wide spectrum of features which include intrahepatic stones, cholelithiasis, PFIC type 3, and intrahepatic cholestasis of pregnancy. Here, we are reporting a peculiar case of young male adolescent with novel variant compound heterozygote missense mutation in ABCB4 gene who had gall stone as initial symptom, followed by symptoms of PFIC and eventually decompensated chronic liver disease.


2021 ◽  
Vol 46 ◽  
pp. S767
Author(s):  
M. Baycheva ◽  
R. Shentova-Eneva ◽  
D. Kofinova ◽  
P. Hadzhiyski ◽  
H. Naydenov ◽  
...  

Hepatology ◽  
1997 ◽  
Vol 25 (3) ◽  
pp. 519-523 ◽  
Author(s):  
E Jacquemin ◽  
D Hermans ◽  
A Myara ◽  
D Habes ◽  
D Debray ◽  
...  

Gut ◽  
2014 ◽  
Vol 64 (1) ◽  
pp. 147-155 ◽  
Author(s):  
Raquel Gordo-Gilart ◽  
Sara Andueza ◽  
Loreto Hierro ◽  
Pilar Martínez-Fernández ◽  
Daniel D'Agostino ◽  
...  

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