The clinical and therapeutic history of a 27-year-old Caucasian female diagnosed with Alagille syndrome (ALGS) was recently reported in Livers.

The patient underwent a genetic test at the age of 13, which ruled out the JAG1 pathogenic variant. In addition, parental screening was negative for other ALGS-related mutations. “ALGS with characteristic facies, pulmonary trunk hypoplasia, and chronic cholestatic liver disease was pointed out. The main complaint of the patient remained itching,” the authors explained. She was under therapy with ursodeoxycholic acid (UDCA), rifampicin, liposoluble vitamin supplementation, and ranitidine.

Her ALGS history began as early as her second day of life. She had neonatal jaundice, which was treated with fluorescent blue light phototherapy. Almost 20 days later, she developed cholestatic jaundice with hypocholic stools. After excluding hepatomegaly, she was started on phenobarbital but her condition did not improve.


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Heart ultrasonography at 2 months of age revealed a moderate ventricular septal defect, with left-right shunt and peripheric pulmonary trunk stenosis. She underwent liver biopsy due to the suspicion of a congenital bile duct abnormality, which confirmed bile duct hypoplasia and a probable diagnosis of ALGS. She was initiated on UDCA therapy.

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Ophthalmologic assessment at 6 months of age revealed a posterior embryotoxon in her right eye. She was hospitalized at 3 years old due to growth retardation and severe itching that did not improve with pharmacological treatment (including phenobarbital, cholestyramine, UDCA, and rifampicin) or percutaneous biliary drainage. Ultimately, her UDCA dosage was increased.

Follow-up in subsequent years showed bile acids levels of 50 to 200 mmol/L and normal levels of alpha-fetoprotein. Imaging examinations performed during adolescence revealed several alterations, including caudate lobe hypertrophy, possible angioma, or focal steatosis between the fourth and fifth liver segments, hypoplasia of the left branch of the pulmonary trunk, and levoscoliosis with augmented lumbar lordosis. Moreover, the patient presented with short stature, hepatomegaly, splenomegaly, and suspected autoimmune thyroiditis.

A new gastroenterology department began following her at the age of 21, when she presented with altered laboratory values. She described general well-being, except for occasional flares of itching, which were successfully treated with cholestyramine, and she maintained her UDCA, rifampicin on demand, and vitamin supplementation.

At 27 years old, the patient is working and socially active. She remains compliant with her therapy and maintains her clinical follow-up visits with regular laboratory and imaging checks. Her cholestasis levels improved progressively over time, with no need for UDCA dosage increase during the last 4 years. She said that she was satisfied with her general quality of life.

Reference

Abenavoli L, Boccuto L, Corea A, Gambardella M, Spagnuolo R, Luzza F. Alagille syndrome and its clinical and laboratory features: a case report. Livers. 2022;2(4):258-263. doi:10.3390/livers2040021