Researchers presented the case report of a pediatric patient with Alagille syndrome (ALGS) requiring liver transplantation in Gastroenterology Nursing.
A 14-year-old boy presented with persistent hyperbilirubinemia, growth failure, recurrent fractures of the lower limbs following trauma, as well as dark-colored urine and pale stools lasting for 3 years.
The patient was previously diagnosed with ALGS at 3 years of age after presenting with a number of associated features (ie, characteristic facies, cholestatic jaundice with a deranged liver profile, hepatosplenomegaly, and a cardiac murmur).
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The initial plan was to manage his condition conservatively with an option for liver transplant if he clinically deteriorated. At 14 years of age, in addition to his lower limb fractures (which were a result of mild trauma), he had experienced 3 episodes of decompensated bleeds in the last 4 years that required emergency endoscopic variceal ligation.
Read more about ALGS etiology
Upon examination, the patient appeared pale, cachexic, and severely malnourished. Dysmorphic facies were noted, as were bruises on the upper extremities bilaterally. He had abdominal tenderness and hepatosplenomegaly. A chest examination revealed a mild murmur. Laboratory investigations revealed mild anemia (hemoglobin, 10.3 g/dL) and abnormal liver function parameters (total bilirubin, 10.4 mg/dL; direct bilirubin, 5.8 mg/dL; alanine transaminase, 63 IU/L; aspartate aminotransferase, 185 IU/L; gamma-glutamyl transferase, 75 IU/L).
Endoscopic gastroduodenoscopy revealed esophageal and gastric varices. A fibroscan demonstrated cirrhosis, dual-energy X-ray absorptiometry showed advanced osteoporosis, abdomen ultrasonography revealed organomegaly and echo texture, 2-dimensional echocardiography showed murmurs and tricuspid regurgitation, and magnetic resonance imaging demonstrated reduced vertebral height in the lumbar and dorsal vertebra.
The patient was monitored by a multidisciplinary team and managed conservatively. He underwent nutritional rehabilitation and a work-up for possible liver transplant.
The patient was advised to complete his pending vaccinations and was placed on the liver transplant registry. While awaiting liver transplantation, some follow-ups were missed and he has had further hospital admissions for minor issues.
“All healthcare professionals should appreciate that early recognition of the disease and careful patient management can minimize poor outcomes in these complex patients,” the authors concluded.
Reference
Arora A, George M. The curious case of Alagille syndrome: a case report with NANDA-I classification, NIC, and NOC linkage to the patient care plan. Gastroenterol Nurs. Published online August 14, 2023. doi:10.1097/SGA.0000000000000755
