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Alagille Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Differential diagnoses for ALGS include other conditions that present with cholestasis (neonates with biliary atresia, sepsis, galactosemia, tyrosinemia, choledochal cyst; patients with progressive familial intrahepatic cholestasis types 1 and 2, arthrogryposis–renal dysfunction–cholestasis syndrome, benign recurrent intrahepatic cholestasis, Norwegian cholestasis [Aagenaes syndrome], benign recurrent intrahepatic cholestasis), interlobular bile duct paucity (patients with alpha-1 antitrypsin deficiency, hypopituitarism, cystic fibrosis, trihydroxycoprostanic acid excess, childhood primary sclerosing cholangitis, mitochondrial disorders, congenital hepatic fibrosis, congenital syphilis, cytomegalovirus, rubella or hepatitis B infection, childhood autoimmune hepatitis, graft-versus-host disease, primary sclerosing cholangitis, Down syndrome, Zellweger syndrome, Ivemark syndrome, and Smith–Lemli–Opitz syndrome), cardiac defects (ventricular septal defect, tetralogy of Fallot), pulmonary stenosis (RAS-MAPK pathway disorders, deletion 22q11 syndrome, Williams syndrome), pulmonic vascular abnormalities (Noonan syndrome, Watson syndrome, William syndrome, Down syndrome, and LEOPARD syndrome), posterior embryotoxon (Rieger syndrome, Bannayan–Riley–Ruvalcaba syndrome, Axenfeld–Rieger syndrome, and 15% of the general population), germline pathogenic variants (Hajdu–Cheney syndrome with pathogenic gain-of-function variant in NOTCH2 exon 34), and somatic pathogenic variants (splenic marginal zone lymphoma with recurrent somatic pathogenic gain-of-function variants in NOTCH2) [1,2].
A nine year follow-up study of patients with lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome)
Published in Scandinavian Journal of Clinical and Laboratory Investigation, 2018
Monica Drivdal, Kirsten B. Holven, Kjetil Retterstøl, Øystein Aagenaes, Bengt Frode Kase
Lymphoedema cholestasis syndrome 1 (LCS1)/Aagenaes syndrome (OMIM 214900) is a rare autosomal recessive inherited disorder that probably originated in the southwest part of Norway [1,2]. Of ∼100 patients (both deceased and alive) diagnosed worldwide, 48 patients have been diagnosed in Norway (Figure 1). Patients may present with a severe intrahepatic cholestasis in infancy. Usually the cholestasis will ease during early childhood, and it may recur with variable severity and frequency throughout life [1,3]. However, the cholestasis is of greatest concern due to its potential fatality [4]. Historically, a total of four patients died due to cirrhosis. Six of the Norwegian LCS1 children had the liver transplanted between 1996 and 2004. Two patients have developed slowly progressing cirrhosis from a young age. One died of cirrhosis in adulthood, another patient was, at data collection, living at age 52 with a stable cirrhosis. Biochemical changes indicating cholestasis include hyperbilirubinemia (70–80% usually conjugated), hyperlipaemia (increase in very low-density lipoproteins (VLDL) and low-density lipoproteins (LDL)) and high levels of liver enzymes [1]. In all periods of cholestasis, hyperlipaemia has been proven [1]. In the cholestatic periods the liver is enlarged, but it returns to normal size outside such periods [1]. The observations of liver findings as published in 1968 have also been observed in later-diagnosed patients by one of the authors (Ø. Aagenaes). Several LCS1 patients report a loss of weight during periods of cholestasis, probably because of poor food intake and malabsorption [5] but also because less lymphoedema is formed due to the declined position caused by bed rest [6]. The primary lymphoedema is present from birth or childhood and usually becomes the most burdensome part of the syndrome as the cholestasis subsides over time [1].