Published online Jun 27, 2020. doi: 10.4254/wjh.v12.i6.312
Peer-review started: January 7, 2020
First decision: February 27, 2020
Revised: May 10, 2020
Accepted: May 27, 2020
Article in press: May 27, 2020
Published online: June 27, 2020
Processing time: 173 Days and 0.4 Hours
Low phospholipid-associated cholelithiasis (LPAC) syndrome is a very particular form of biliary lithiasis with no excess of cholesterol secretion into bile, but a decrease in phosphatidylcholine secretion, which is responsible for stones forming not only in the gallbladder, but also in the liver. This study describes the clinical and radiological characteristics of patients with LPAC syndrome to better identify and diagnose the disease.
LPAC syndrome is considered a rare disease, but it may be underreported due to a lack of testing resulting from insufficient awareness among physicians, radiologists, and digestive surgeons. Improving the understanding of this syndrome will facilitate the screening and treatment of patients.
We aimed to determine the clinical and radiological characteristics, as well as the outcome of patients with LPAC syndrome in order to better identify and diagnose the disease.
We prospectively evaluated all adult patients who were consulted or hospitalized in two hospitals in Paris, France, between January 1, 2017 and August 31, 2018. All patients whose profiles led to a clinical suspicion of LPAC syndrome underwent a liver ultrasound examination performed by an experienced radiologist to confirm the diagnosis of LPAC syndrome. Twenty-four patients were selected. Patients’ characteristics, radiological features and outcomes were analyzed.
Most patients were young (median age of 37 years), male (58%), and not overweight (median body mass index was 24). Many had a personal history of acute pancreatitis (54%) or cholecystectomy (42%), and a family history of gallstones in first-degree relatives (30%). LPAC syndrome was identified primarily in patients with recurring biliary pain (88%) or after a new episode of acute pancreatitis (38%). When present, cytolysis and cholestasis were not severe and disappeared quickly. Interestingly, four patients from the same family were diagnosed with LPAC syndrome. At ultrasound examination, the most frequent findings in intrahepatic bile ducts were comet-tail artifacts (96%), microlithiasis (83%), and acoustic shadows (71%). Computed tomography scans and magnetic resonance imaging were performed on 15 and three patients, respectively, but microlithiasis was not detected. Complications of LPAC syndrome required hospitalizing 18 patients (75%) in a conventional care unit for a mean duration of 6.8 d. None of them died. Treatment with ursodeoxycholic acid (UDCA) was effective and well-tolerated in almost all patients (94%) with a rapid onset of action (3.4 wk). Twelve patients’ (67%) adherence to UDCA treatment was considered “good.” Five patients (36%) underwent cholecystectomy (three of them were treated both by UDCA and cholecystectomy). Despite UDCA efficacy, biliary pain recurred in five patients (28%), three of whom adhered well to treatment guidelines.
LPAC syndrome is easy to diagnose and treat; therefore, it should no longer be overlooked. LPAC syndrome typically manifests through biliary symptoms or episodes of acute pancreatitis in young patients with normal BMI. Symptoms often reoccur after cholecystectomy and patients usually have family history of cholelithiasis. The diagnosis is made via ultrasound examination by detecting intrahepatic lithiasis or comet-tail artifacts. Other exams are not necessary unless ultrasound examination proves ineffective. Genetic testing is not necessary for diagnosis because no mutations are detected in half of patients, but it can be performed for the purpose of research or genetic family counseling. LPAC syndrome is easily treatable with UDCA, which is rapidly effective, well-tolerated, and avoids the recurrence of biliary symptoms and long-term complications. Cholecystectomy should be reserved in the case of acute cholecystitis or if treatment with UDCA fails.
LPAC syndrome is likely underreported due to a lack of testing resulting from insufficient awareness among physicians, radiologists, and digestive surgeons. A deeper understanding of this disease by these medical professionals is necessary to avoid overlooking its rather simple diagnosis. To increase its detection rate, all patients who experience recurrent biliary symptoms following an episode of acute pancreatitis should undergo an ultrasound examination performed by a radiologist with knowledge of the disease.