Liver Transplant Saves 9-Yr-Old Girl With Very Rare Disorder Homozygous FH
Liver Transplant Saves 9-Yr-Old Girl With Very Rare Disorder Homozygous FH
Liver transplant is a definitive treatment for Homozygous Familial Hypercholesterolemia (FH), a rare metabolic disorder that leads to abnormal cholesterol levels in the body, say doctors.
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A 9-year-old girl who was diagnosed with Familial Hypercholesterolemia (Homozygous), a rare metabolic disorder, underwent successful liver transplant at a Mumbai hospital. The girl's father donated part of his liver to save his daughter. Homozygous Familial Hypercholesterolemia is passed down through families. Read on to know more about this rare disorder.
Homozygous Familial Hypercholesterolemia
Familial Hypercholesterolemia is a rare metabolic disorder that leads to abnormal cholesterol levels in the body, early cardiovascular disease and in rare cases can be fatal. There are multiple variants of this disease. The girl (Avani Nakate) was diagnosed with the homozygous variant, which is a very rare affecting 1 in 300,000 children.
People with Homozygous Familial Hypercholesterolemia (FH) have elevated levels of cholesterol in their blood as the LDL receptors in their liver are unable to metabolize it. This leads to deposition of cholesterol, leading to a variety of serious health issues, including coronary artery disease and liver problems.
Dr Lalit Verma, Senior Consultant Paediatric Hepatology at Global Hospital, highlighted that this rare life-threatening disorder is under-diagnosed and under-treated, adding that screening and early intervention is critical for patients suffering from it.
Liver transplant is the ultimate option for Homozygous FH
Doctors at Global Hospital, who treated the girl, said that liver transplant is a definitive treatment for homozygous familial hypercholesterolemia.
The girl from Solapur, Maharashtra underwent a CABG (coronary artery bypass graft) due to the high levels of cholesterol in her coronary arteries in April 2021 and she was on a medication to lower cholesterol. At Global Hospital, she was recommended for a liver transplant. The liver transplant was performed by a multidisciplinary team led by Dr Gaurav Chaubal, Director Liver, Pancreas, Intestine Transplant Program & HPB Surgery at Global Hospital, Parel.
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As the transplanted liver has normal LDL receptors, it allowed the LDL to be metabolized normally, they said.
Dr Chaubal said that process was complex because the girl had already undergone a CABG and her vessels had cholesterol deposits. The team also include a Pediatric Hepatologist and Transplant Anaesthetist. The patient was discharged on the 10th day after the transplant.
Symptoms of Homozygous FH
According to Avani's father Mr. Nakate, she was unable to play and was always breathless.
As her health kept on deteriorating, they showed her to the specialists, who told them that she had a metabolic disorder and will have to undergo CABG. But even after the CABG, her symptoms continued.
Dr Gaurav Chaubal and the team helped the parents understand their child's condition and told them that the definitive treatment for this is liver transplant.
Post the liver transplant, Avani is able to play with her friends and go to school like any normal child, said the father.
Dr Vivek Talaulikar, Chief Executive Officer, Global Hospital, Mumbai, reiterated that early screening, intervention and correct diagnosis can help save the lives of many such patients.
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