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Early liver transplant stopped neurological damage caused by defects of cholesterol biosynthesis

Timely liver transplant in patients with cholesterol biosynthesis defects may stop the progression of neurological disease based on case study results from a patient with lathosterolosis.

In a review conducted in Italy, a lone surviving patient with the rare metabolic disorder — diagnosed when she was aged 2 years — had significant improvements in her mental and physical health after undergoing a left split liver graft.

At age 7 years, the patient underwent liver transplantation (LT) after developing end-stage liver disease. Before transplantation, the patient had bilateral cataracts surgically repaired, exhibited signs of autism and was unable to ambulate without assistance. One year after transplant, the patient gradually began to walk independently and started interacting with her caregivers. At 5 years post-LT, she had returned to her everyday life, with some limitations, and her mental deterioration had ceased.

“We were dealing with a unique case — literally, as the child is the only known surviving patient with the condition — so it is difficult drawing inferences of broader significance,” Pier Luigi Calvo, MD, department of pediatrics, University of Turin, said in a press release. “We described this case on its own merits and also as a possible model for other, more common defects of cholesterol biosynthesis.”

Blood tests performed after LT indicated that the patient’s cholesterol levels had increased and her lathosterol levels fell, both within hours of the procedure. Her liver function stabilized after 3 months. Within 1 year of post-transplantation, the patient’s cholesterol returned to normal levels — 138 mg/dL — and brain lesions seen in a pre-transplant MRI did not worsen at either the 1- or 5-year follow-ups.

Calvo and colleagues said it is unclear how normalized cholesterol levels could affect mental development.

“Restitution to a normal cholesterol metabolism by LT might be considered for patients with [defects of cholesterol biosynthesis] even in the absence of end-stage liver disease with the aim of preventing further neurological deterioration,” the researchers concluded.

Disclosure: The researchers report no relevant financial disclosures.