Low Phospholipid Associated Cholelithiasis
Conditions
Brief summary
The goal of this observational study is to describe the various clinical, biological and radiological manifestations of LPAC syndrome, defined according to standard diagnostic criteria, or according to criteria extended to all symptomatic recurrent biliary lithiasis, and delineate the various possible evolutions. Participants will be followed for 5 years and the inclusion sites will collect the necessary data at least once a year as part of routine patient care. A quality of life self-questionnaire will be completed by participants during these visits.
Interventions
None listed
Sponsors
Institut National de la Santé Et de la Recherche Médicale, France
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
13 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Children or adults meeting the standard\* or extended\*\* diagnostic criteria for LPAC syndrome: 1. First symptoms before the age of 40 years 2. Radiological images compatible with the existence of intrahepatic lithiasis 3. Recurrence of symptoms after cholecystectomy (\*) standard criteria: symptomatic biliary lithiasis with at least 2 out of 3 criteria (\*\*) extended criteria: symptomatic biliary lithiasis with 1 out of 3 criteria
Exclusion criteria
* Patients who have undergone liver transplantation
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Descriptive analysis of the clinical manifestations of LPAC syndrome like personal and family medical history of the disease, clinical features, medical complications, co-morbidities, death (age of onset and cause). | Through study completion, an average of 5 years |
| Descriptive analysis of the biological manifestations of LPAC syndrome like hepatic biochemical tests and glucido-lipid tests | Through study completion, an average of 5 years |
| Descriptive analysis of the radiological manifestations of LPAC syndrome like presence of stones or signs of intrahepatic, vesicular or main bile duct micro-lithiasis | Through study completion, an average of 5 years |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Description of diagnostic practices by a descriptive analysis of sequences of medical procedures used to diagnose LPAC syndrome. | Through study completion, an average of 5 years | — |
| Description of therapeutic practices by a descriptive analysis of the different curative and symptomatic treatments offered depending on the stage of the disease and the type of extra-hepatic complications. | Through study completion, an average of 5 years | — |
| Description of patient management practices. | Through study completion, an average of 5 years | — |
| Identification of new diagnostics by refining the collection of semiological fields of 1st degree relatives and including patients with recurrent symptomatic biliary lithiasis who do not fully meet the current diagnostic criteria for LPAC syndrome | Through study completion, an average of 5 years | The extension of the criteria will be proposed on the basis of the collection of all the semiological fields of patients diagnosed with an LPAC syndrome defined according to the usual or extended criteria and their 1st degree relatives. The extended diagnostic criteria are : * Age of onset of the disease over 40 years of age * The presence of recurrent biliary lithiasis without radiological signs characteristic of LPAC syndrome (comet tails or intrahepatic lithiasis). Patients with symptomatic gallstones who have only one of the 3 criteria for LPAC syndrome (onset before the age of 40, intrahepatic microlithiasis, recurrence after cholecystectomy). |
| Evaluation of response to medical and interventional treatments. | Through study completion, an average of 5 years | This evaluation criterion will be the search for correlation between response or non-response to medical and interventional treatments. This will be analysed by looking at the presence or absence of certain clinical, biochemical, molecular and radiological features of the disease such as : * No reduction in the frequency or intensity of painful attacks. * No reduction in the number of complications. * No improvement or normalisation of liver tests. * No regression or disappearance of radiological signs of intrahepatic lithiasis * No improvement in the criteria for assessing quality of life and impact on social life |
| Identification of prognostic factors (clinical, biochemical, radiological) associated with a poor therapeutic response by assessing the occurrence of events such as : - Fatal or non-fatal complications - Death due to hepatic or other causes | Through study completion, an average of 5 years | — |
| Assessing the impact of LPAC syndrome on quality of life. | Through study completion, an average of 5 years | Impact of disease on quality of life will be evaluated through scores of quality of life questionnaires (SF-36) |
| Evaluation of the proportion of patients referred to LPAC within the population referred to the hepatology and/or digestive surgery departments for biliary lithiasis during the same study period | Through study completion, an average of 5 years | The relative prevalence of LPAC syndrome (number of cases of LPAC syndrome compared with the number of cases of gallbladder disease) will be measured from 1 March 2016 to 28 February 2017, based on cases recorded in the centres participating in the study. The relative incidence (number of new cases of LPAC syndrome compared with the number of new cases of gallstones) will be measured over the same period, in the same centres. The total number of patients seen in hospital or in consultation during the same period for gallstones will be collected in each participating hospital using the pmsi code. |
Countries
France
Contacts
PRINCIPAL_INVESTIGATORChristophe CORPECHOT
INSERM UMR_S938
Outcome results
None listed