Alagille Syndrome

Kamath, Binita M.; Spinner, Nancy B.; Piccoli, David A.

doi:10.1017/9781108918978.014

Cited by 4 publications

(7 citation statements)

References 77 publications

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“…Liver involvement is observed in 89–100% of patients with ALGS. 9 The spectrum of presentation of this hepatic affliction is varied. It presents in early infancy with cholestasis mimicking an obstructive cause like biliary atresia.…”

Section: Hepatic Involvementmentioning

confidence: 99%

“…This has other tumble-down effects like interruption of sleep, poor scholastics, lichenification of skin and secondary infections. 9 Serum cholesterol levels remain high, and these children are likely to develop xanthomas causing dysmorphism/disfigurement and long-term cardiovascular adverse effects. Chronic cholestasis is also likely to lead to hepatic osteodystrophy resulting in fractures.…”

Section: Hepatic Involvementmentioning

confidence: 99%

“…Hence it is not surprising that patients with ALGS have various forms of renal involvement. Renal involvement is observed in 40–70% of patients with ALGS and is one among the revised diagnostic criteria in the diagnosis of ALGS 9 ( Table 1 ).…”

Section: Renal Involvementmentioning

confidence: 99%

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Multidisciplinary Management of Alagille Syndrome

Menon¹,

Shanmugam²,

Vij³

et al. 2022

JMDH

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Alagille syndrome (ALGS) is an autosomal dominant disorder characterized by involvement of various organ systems. It predominantly affects the liver, skeleton, heart, kidneys, eyes and major blood vessels. With myriads of presentations across different age groups, ALGS is usually suspected in infants presenting with high gamma glutamyl transpeptidase cholestasis and/or congenital heart disease. In children it may present with decompensated cirrhosis, intellectual disability or short stature, and in adults vascular events like stroke or ruptured berry aneurysm are more commonly noted. Liver transplantation (LT) is indicated in children with cholestasis progressing to cirrhosis with decompensation. Other indications for LT include intractable pruritus, recurrent fractures, hepatocellular carcinoma and disfiguring xanthomas. Due to an increased risk of renal impairment noted in ALGS, these patients would require optimized renal sparing immunosuppression in the post-transplant period. As the systemic manifestations of ALGS are protean and a wider spectrum is being increasingly elucidated, a multidisciplinary team needs to be involved in managing these patients. Moreover, many basic-science and clinical questions especially with regard to its presentation and management remain unanswered. The aim of this review is to provide updated insights into the management of the multi-system involvement of ALGS.

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Section: Hepatic Involvementmentioning

confidence: 99%

Section: Hepatic Involvementmentioning

confidence: 99%

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Multidisciplinary Management of Alagille Syndrome

Menon¹,

Shanmugam²,

Vij³

et al. 2022

JMDH

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“…While pulmonary artery involvement is a hallmark feature of Alagille syndrome, there are widespread vascular anomalies that can be seen in Alagille syndrome, often thought to be due to the intrinsic role of the Notch signaling pathway in vascular morphogenesis, angiogenesis, and vessel homeostasis. 17 Intracranial bleeds occur in 22%–25% of patients; 30%–50% of these events are fatal even without significant coagulopathy. 11 , 18 , 19 Systemic vascular anomalies involving the aorta, renal, celiac, superior mesenteric, and subclavian arteries have also been reported.…”

Section: Introductionmentioning

confidence: 99%

“… 75 Unfortunately, this is less effective for those with Alagille syndrome compared to PFIC as the biliary tree may be hypoplastic with less bile reaching the duodenum. 17 For children and adults with PFIC, after partial external biliary diversion, most patients subjectively experience a response with one study reporting 81% of those with PFIC1 and 76% of those with PFIC2 having transient or sustained improvement of pruritus. 76 A new variant of this procedure consists of an internal diversion to the colon to obviate the need for an ostomy bag.…”

Section: Introductionmentioning

confidence: 99%

Diagnosis and management of Alagille and progressive familial intrahepatic cholestasis

Cheng,

Rosenthal

2023

Hepatology Communications

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Alagille syndrome and progressive familial intrahepatic cholestasis are conditions that can affect multiple organs. Advancements in molecular testing have aided in the diagnosis of both. The impairment of normal bile flow and secretion leads to the various hepatic manifestations of these diseases. Medical management of Alagille syndrome and progressive familial intrahepatic cholestasis remains mostly targeted on supportive care focusing on quality of life, cholestasis, and fat-soluble vitamin deficiency. The most difficult therapeutic issue is typically related to pruritus, which can be managed by various medications such as ursodeoxycholic acid, rifampin, cholestyramine, and antihistamines. Surgical operations were previously used to disrupt enterohepatic recirculation, but recent medical advancements in the use of ileal bile acid transport inhibitors have shown great efficacy for the treatment of pruritus in both Alagille syndrome and progressive familial intrahepatic cholestasis.

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Balanced Translocation Disrupting JAG1 Identified by Optical Genomic Mapping in Suspected Alagille Syndrome

et al. 2023

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We report the clinical and genetic features of a Han Chinese boy who presented with disease suspect for Alagille syndrome (ALGS). Multiple genetic analyses (panel sequencing, multiplex-ligation-dependent probe amplification, and whole genome sequencing) failed to uncover a causative variant. Optical genomic mapping detected a reciprocal translocation between chromosomes 4 and 20, interrupting JAG1. Long-range polymerase chain reaction and targeted sequencing identified the exact breakpoints. Sanger sequencing and reanalysis of genome sequencing raw data further confirmed the result. This translocation is expected to generate aberrant JAG1 transcripts that lead to complete loss of JAG1 expression. This is the first t(4;20)(q22.1;p12.2) balanced translocation detected by optical genomic mapping and characterized at base-pair resolution in ALGS. Our approach permitted precise diagnosis and genetic counseling.

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Alagille Syndrome

Cited by 4 publications

References 77 publications

Multidisciplinary Management of Alagille Syndrome

Multidisciplinary Management of Alagille Syndrome

Diagnosis and management of Alagille and progressive familial intrahepatic cholestasis

Balanced Translocation Disrupting JAG1 Identified by Optical Genomic Mapping in Suspected Alagille Syndrome

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