Low-Phospholipid Associated Cholelithiasis (LPAC) syndrome: A synthetic review

Goubault, P.; Brunel, T; Rode, Agnès; Bancel, Brigitte; Mohkam, Kayvan; Mabrut, J.‐Y.

doi:10.1016/j.jviscsurg.2019.02.006

Cited by 23 publications

(31 citation statements)

References 25 publications

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“…LPAC syndrome is an elusive clinical entity and its prevalence remains unknown [8,9]. It is admitted that a diagnosis of LPAC syndrome should be considered when at least two of the following criteria are met: 1) onset of symptoms before the age of 40; 2) recurrence of symptoms after cholecystectomy; 3) intrahepatic microlithiasis characterized by comet tail images, hyperechoic foci, or biliary sludge on liver ultrasound [2].…”

Section: J O U R N a L P R E -P R O O F Introductionmentioning

confidence: 99%

Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities

et al. 2021

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This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

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Section: J O U R N a L P R E -P R O O F Introductionmentioning

confidence: 99%

Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities

et al. 2021

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“…It is increasingly recognized that genetic variations in ABCB4 cause several cholestatic liver diseases including PFIC3, ICP, LPAC, and DILI (11,18,19). Moreover, genomic studies have shown a link between ABCB4 dysfunction and hepatobiliary malignancies (20,21).…”

Section: Discussionmentioning

confidence: 99%

A novel compound heterozygous mutation in ABCB4 gene in a pedigree with progressive familial intrahepatic cholestasis 3: a case report

Bai¹,

Li²,

Liu³

et al. 2021

Ann Transl Med

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Progressive familial intrahepatic cholestasis (PFIC) includes a group of genetic autosomal recessive disorders that predominantly affects young children and results in early-onset progressive liver damage. Variations in ABCB4 have been shown to cause PFIC3. However, the association between ABCB4 genotype and clinical manifestations remains unclear. We investigated the clinical manifestations and genetic features of a Chinese Han pedigree with PFIC3. A 15-year-old boy, with high-serum gamma-glutamyl transferase (γ-GT) cholestatic cirrhosis, was diagnosed with PIFC3. After ursodeoxycholic acid (UDCA) treatment, the boy stayed in a relatively stable state with mild itching, and elevated γ-GT exhibited a remarkable decrease. Genetic testing identified a novel compound heterozygous mutation L842P/V1051A in ABCB4, which was inherited from his mother and father, respectively. Several predictive software suggested that these two mutations are pathogenic. Interestingly, the same compound heterozygous mutation was also found in his two sisters, one of whom had a history of intrahepatic cholestasis of pregnancy (ICP) and the other had asymptomatic gallstones. Therefore, this novel compound heterozygous mutation L842P/V1051A caused a continuum of ABCB4-related diseases including ICP, cholelithiasis and PFIC3 in our pedigree. The inconsistency between genotypes and phenotypes may be influenced by other factors. Genetic testing will be useful for diagnosis and genetic counseling.

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“…A pesquisa de mutação no gene ABCB4 não foi realizada, pois deve ser utilizada para confirmação do diagnóstico em casos menos típicos. A partir da identificação de um caso índice com mutação comprovada, a triagem familiar é recomendada com o objetivo de oferecer diagnósticos precoces e aconselhamento genético centrado na família, com estabelecimento de tratamento e prevenção de complicações (6) . Contudo, cabe ressaltar que, como a mutação no gene ABCB4 não está presente em 100% dos casos, sua ausência não invalida o diagnóstico da síndrome LPAC.…”

Section: Discussionunclassified

“…A prevalência da Síndrome era considerada baixa, porém desconhecida (6) . Dong et al (2) em estudo recente com a maior coorte e caso controle em pacientes com LPAC, forneceu a primeira estimativa da prevalência dessa condição em pacientes com colelitíase sintomática: aproximadamente 1% dos pacientes internados com sintomas de cálculo biliar em centros de saúde na França (2) .…”

Section: Introductionunclassified

Low-Phospholipid-Associated Cholelithiasis Syndrome (LPAC): quando suspeitar? Relato de caso / Low-Phospholipid-Associated Cholelithiasis Syndrome (LPAC): when to suspect? Case report

Miossi

Venturini

Assad

et al. 2021

Arq Med Hosp Fac Cienc Med Santa Casa São Paulo

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Introdução: A Síndrome LPAC (Low-phospholipid-associated cholelithiasis syndrome) é uma forma rara de colelitíase intra-hepática, associada ao defeito na secreção canalicular de fosfolipídios para a bile. Faz parte do espectro de doenças hepáticas associadas a deficiências do ABCB4/ MDR3 e é caracterizada por eventos recorrentes de cólica biliar, colangite aguda ou pancreatite em pacientes após a colecistectomia. Objetivo: Relatar um caso suspeito de LPAC de forma a expandir o conhecimento da doença. Relato de Caso: Paciente feminino, 39 anos, procurou atendimento por quadro de dor em região de hipocôndrio direito comirradiação para dorso, associada a náuseas e vômitos há dois dias. Relatou primeiro episódio de pancreatite aguda em 2019, com seis episódios subsequentes, sendo o últimoem abril de 2020 quando foi submetida à colecistectomia videolaparoscópica durante a internação. Desde então, referiu outros três episódios. Alterações laboratoriais incluíamaumento significativo de lipase. Baseado nos critérios clínicos e laboratoriais, estabeleceu-se diagnóstico de pancreatite aguda e por critérios clínicos suspeita-se do diagnóstico deLPAC. Conclusão: A síndrome LPAC, apesar de pouco documentada na literatura, deve ser lembrada como hipótese diagnóstica em casos de cólica biliar e pancreatite de origem biliar, que recorrem mesmo após a colecistectomia ou se manifestam em pacientes jovens sem fatores de risco clássicos para tais doenças.Palavras chave: Colestase, Ácido ursodesoxicólico, Colelitíase ABSTRACTIntroduction: Low-phospholipid-associated cholelithiasis syndrome (LPAC) is a rare form of intrahepatic lithiasis linked to a defect of phospholipid canalicular secretion intobile. It is part of the spectrum of liver diseases associated with ABCB4/MDR3 deficiencies and is characterized by recurrent events of biliary colic, acute cholangitis, or pancreatitis in patients after cholecystectomy. Objectives: To report a suspected case of LPAC to expand the knowledge of this pathology. Case report: Patient, female, 39 years old, sought medical attention with pain on the right hypochondrium associated with nausea and vomit that initiated two days ago. The patient reported the first episode of acute pancreatitis in 2019 and six more episodes afterward. In the last episode, on April 2020, cholecystectomy was performed during hospitalization. Three more episodes of acute pancreatitis occurred since then. Elevated lipase levels appeared on laboratory evaluation. Therefore, the diagnosis of acute pancreatitis was made based on clinical and laboratory signs and the diagnosis of LPAC was suspected based on clinical signs. Conclusion: Althought there is few articles about LPAC syndrome it must be reminded as a differential diagnosis in cases of recurrence of biliary pain, acute pancreatitis after cholecystectomy, and when these events occur in young patients with no classic risk factors for such diseases.Keywords: Cholestasis, Ursodeoxycholic acid, Cholelithiasis

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Low-Phospholipid Associated Cholelithiasis (LPAC) syndrome: A synthetic review

Cited by 23 publications

References 25 publications

Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities

Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities

A novel compound heterozygous mutation in ABCB4 gene in a pedigree with progressive familial intrahepatic cholestasis 3: a case report

Low-Phospholipid-Associated Cholelithiasis Syndrome (LPAC): quando suspeitar? Relato de caso / Low-Phospholipid-Associated Cholelithiasis Syndrome (LPAC): when to suspect? Case report

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