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9-yr old girl with metabolic disorder underwent liver transplant

Familial Hypercholesterolemia (Homozygous) is a rare metabolic disorder that leads to abnormal cholesterol levels in the body, early cardiovascular disease and in rare cases can be fatal.

February 20, 2023
9-yr old girl with metabolic disorder underwent liver transplant

By Health In Five Writer

A multidisciplinary team led by Dr Gaurav Chaubal, Director – Liver, Pancreas, Intestine Transplant Program & HPB Surgery at Global Hospital, Parel, performed a successful liver transplant on a 9-year-old girl diagnosed with Familial Hypercholesterolemia (Homozygous), a rare metabolic disorder that leads to abnormal cholesterol levels in the body, early cardiovascular disease and in rare cases can be fatal. The girl’s father donated part of his liver to save his daughter. The transplant helped lower her cholesterol levels to near normal post the surgery. This is a testament to the hospital’s commitment to provide advanced medical care for children with complex and life-threatening conditions.

The young patient Avani Nakate, a resident of Solapur, Maharashtra was diagnosed with Familial Hypercholesterolemia. There are multiple variants of this, but Avani had a homozygous variant of the disease which is very rare affecting 1 in 300,000 children. This leads to elevated levels of cholesterol in our blood as the LDL receptors in the liver are unable to metabolize this which leads to deposition of cholesterol, leading to a variety of serious health issues, including coronary artery disease and liver problems. In Avani’s case, she had already undergone a CABG due to the high levels of cholesterol in her coronary arteries in April 2021. Transplanting the liver allowed the LDL to be metabolized normally as the transplanted liver has normal LDL receptors and hence Liver Transplant is a definitive treatment for homozygous familial hypercholesterolemia

Dr Lalit Verma, Senior Consultant – Paediatric Hepatology at Global Hospital said, “Avani was diagnosed with Homozygous Familial Hypercholesterolemia (FH), a rare variant of this disease which causes accelerated deposition of cholesterol in arteries leading to Coronary artery disease and Liver issues. Homozygous Familial Hypercholesterolemia is under-diagnosed and under-treated, hence the importance of screening and early intervention is critical for patients suffering from it.”

Dr Gaurav Chaubal, Director – Liver, Pancreas, Intestine Transplant Program & HPB Surgery at the hospital said, “Initially, after her CABG, she was started on a medication to lower cholesterol. On assessment, we realised, she had the homozygous variant and definitive treatment for this is liver transplant. Her father was ready to donate part of his liver to save his young daughter. Her case was complex because she had already undergone a CABG and her vessels had cholesterol deposits. Having a Pediatric Hepatologist and Transplant Anaesthetist in our team allows us to take up such challenging cases and deliver successful outcomes. Avani was extubated on the table post the transplant and was discharged on the 10th day after the transplant.”

“Many families are unaware of the problems they or their loved ones face. Early screening, intervention and correct diagnosis can help save the lives of patients. We have a comprehensive team to take care of a full spectrum of liver diseases from an infant of 4 months to an 80 year old patient. The team performed 125 transplants in the year 2022 including Adult and Pediatric Liver, Intestine, Pancreas and Simultaneous Kidney Pancreas Transplants,” concluded Dr Vivek Talaulikar, Chief Executive Officer, Global Hospital, Mumbai.

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