Alstrom syndrome is a genetic disorder with autosomal recessive inheritance and multiple organ failure. Hearing loss, childhood obesity, diabetes mellitus, and nonalcoholic fatty liver disease are common disorders in this disease. Degree of nonalcoholic fatty liver disease ranges from benign steatosis to cirrhosis. Since it first description in 1959, 89 cases have been reported, and none in the literature underwent liver transplant. In this report, we describe a 19-year-old male patient with a diagnosis of hearing loss, obesity, and diabetes mellitus started since childhood. He was evaluated for bloody vomiting, and grade 3 esophageal varices were detected, with liver cirrhosis findings made with abdominal tomography. The patient had a Model for End-Stage Liver Disease score of 23, and deceased donor liver transplant was planned. After an appropriate donor was identified, the patient underwent liver transplant with an operation lasting approximately 6 hours. Cold ischemia time was about 5 hours, and anastomosis time was about 30 minutes. The patient was extubated on posttransplant day 1. On posttransplant day 10, his vital parameters remained normal, but he had blurred consciousness and loss of orientation. Neurological examination and imaging revealed minimal subdural effusion and mild cerebral cortical dysfunction in electroencephalogram. The patient’s symptoms improved after medical treatment, and the patient was discharged on day 13 posttransplant. At the month 24 outpatient follow-up, the patient had no problems. Alstrom syndrome is an autosomal recessive genetic disorder with multiple organ failure. Although various degrees of liver disease have been described in the literature that may progress to cirrhosis of the liver, our present case is considered original because of the absence of liver transplant descriptions in the literature.
Key words : Liver cirrhosis, Nonalcoholic fatty liver disease
Alstrom syndrome (AS) is a rare autosomal recessive disorder with multiorgan failure. Alstrom syndrome (Online Mendelian Inheritance in Man database 203800) was first described in 1959 and has an estimated prevalence of < 1:100 000.1 It occurs as a result of mutations of the ALMS1 gene on chromosome 2. Clinically, it presents with childhood obesity, sensorineural hearing loss, visual loss due to congenital retinal dystrophy, type 2 diabetes mellitus, hypertriglyceridemia, cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction.2 Treatment of the disease usually involves treatment specific to the affected organ. Although liver cirrhosis has been reported in the literature in early age, there are no descriptions of patients who underwent liver transplant due to liver cirrhosis. In the present case report, we describe a 19-year-old patient diagnosed with AS who had undergone deceased donor liver transplant due to cirrhosis of the liver.
A 19-year-old man was born without additional problems at normal birth weight. He was diagnosed with AS by genetic analysis of obesity, hearing and vision loss, and dilated cardiomyopathy at about age 5 years. Grade 3 esophageal varices were detected in upper gastrointestinal endoscopy performed in the hospital with hematemesis and melena complaints in the following years. He was diagnosed with liver cirrhosis due to irregularities in the liver contours, parenchymal heterogeneity, caudate lobe hypertrophy, ascites, splenomegaly, and diffuse venous collaterals. Hepatitis B and C markers, autoimmune markers, and viral and infectious tests were found to be negative.
It is known that the most common liver transplant in childhood is because of biliary atresia. Magnetic resonance imaging showed no biliary pathology. Vein Doppler ultrasonography imaging showed no thrombus. Trucut biopsy of the liver parenchyma revealed liver cirrhosis. In the laboratory studies, international normalized ratio was 1.8, sodium level was 133 mmol/L, total bilirubin was 5.9 mg/dL, and creatinine was 0.6 mg/dL. Model for End-Stage Liver Disease score was calculated as 23. The patient was scheduled for a liver transplant and did not have a living donor. As a result, the patient was included in the deceased donor liver transplant list. After identification of an appropriate donor, the patient underwent liver transplant with an operation lasting approximately 6 hours. The cold ischemia time was about 5 hours, and the anastomosis time was about 30 minutes. The liver removed from the patient was 988 grams, and the transplanted liver was 938 grams.
The patient was taken to the intensive care unit after the operation and was extubated on posttransplant day 1. On day 10 posttransplant, his vital parameters remained normal, but he had blurred consciousness and loss of orientation. Neurological examination and imaging revealed minimal subdural effusion and mild cerebral cortical dysfunction in electroencephalogram. Because the patient had a generalized seizure, levetiracetam treatment was started by neurology.
The patient’s symptoms improved after medical treatment, and the patient was discharged on day 13 posttransplant. In the follow-up at 24 months after transplant, liver functions and general condition were evaluated as normal. An additional neurology problem did not develop in the patient who was also followed up by neurology.
Alstrom syndrome is a rare genetic disease affecting many systems in the body. It was first described by Carl-Henry Alstrom in Switzerland in 1959. Individuals with AS are more likely to have nonalcoholic fatty liver disease (NAFLD) than obese people of the same age group. Advancing age, diabetes, and increased body mass index are also associated with increased risk of developing NAFLD and cirrhosis. In AS, liver failure can range from mild transaminase elevation to cirrhosis of the liver. Hepatomegaly develops in the disease process, which starts with a slight enzyme elevation in childhood. In the second or third decades, affected individuals develop liver failure and cirrhosis. Consequently, portal hypertension may develop and patients may have ascites, splenomegaly, esophageal varices, and hepatic encephalopathy. Liver biopsies and postmortem examination have revealed varying degrees of hepatic fibrosis, cirrhosis, steatohepatitis, chronic nonspecific active hepatitis with lymphocytic infiltration, and patchy necrosis.
Gathercole and associates3 have described that patients with AS are at an increased risk of advanced NAFLD and cirrhosis, which seems disproportionate to age, body mass index, and duration of diabetes. Adipose dysfunction and NAFLD are common in patients with AS. The severity of liver disease in our patient supported the need for screening of liver fibrosis in AS.
Liver involvement in AS was first described by Connolly and associates in 1991.4 In the literature, cases with liver failure and cirrhosis without any etiological factors in AS have been reported.3,5-7 However, there are no reports in the literature of patients who developed liver cirrhosis due to AS and subsequently underwent liver transplant.
Therefore, the present case is thought to be of particular value for the applicability of liver transplant in patients with AS and who develop liver cirrhosis.
DOI : 10.6002/ect.2020.0006
From the Department of General Surgery, Bursa Uludag University, Bursa, Turkey
Acknowledgements: The authors have not received any funding or grants in support of the presented research or for the preparation of this work and have no further declarations of potential interest.
Corresponding author: Ekrem Kaya, Department of General Surgery, Faculty of Medicine, Bursa Uludag University, Gorukle, Nilufer, Bursa, Turkey