Bile acid synthesis disorder is a lifelong condition

A rare condition, bile acid synthesis disorder has only one treatment — oral cholic acid — which costs thousands of dollars a month due to its status as an ‘orphan’ drug.

Bile acid synthesis disorder (BASD) is a lifelong condition for which there is no cure. The genetic disorder results in a defect in the production of bile acids and causes rapid progressive damage to the liver. “These problems commonly manifest in children as jaundice, stunted growth, malabsorption of fat-soluble vitamins and bleeding tendencies. If left untreated or if treatment is started late when there is irreversible liver damage, patients may show signs of chronic liver disease and may require liver transplant in the future,” said Dr Veena Logarajah, Senior Consultant, Gastroenterology, Hepatology and Nutrition Service, Department of Paediatrics, KK Women’s and Children’s Hospital (KKH). This condition is extremely rare, with up to nine cases for every one million children. “To date, there are fewer than 50 reported cases of BASD worldwide,” she said. There has only been one case of BASD in Singapore — a now six-year-old boy named Christopher (see story below).

The only treatment for BASD is through oral cholic acid, which patients have to take for the rest of their lives.

For children such as Christopher who respond well to the medication, there is no impact on life expectancy. “If treatment is started early before significant liver damage, there is normalisation of liver function, resolution of liver inflammation, correction of malabsorption of fat-soluble vitamins and improvement in the child’s growth,” said Dr Veena.

One drawback of the treatment is its prohibitive cost, which can come up to thousands of dollars a month for a child of Christopher’s age. The cost is expected to increase as Christopher grows older, since dosage needs to be increased to match growth. According to Dr Veena, the reason for the high cost is because cholic acid is an ‘orphan’ drug; this means that it is manufactured by only a handful of pharmaceutical companies.

“Although the hospital had obtained quotations from several vendors to ensure the most cost-efficient preparation, the challenge was in securing funding in view of the high medication costs,” explained Dr Veena. She added that approval was also required to import it from manufacturers specifically for Christopher’s use as the medication is not registered with the Health Sciences Authority.

Dr Veena shared that there are currently no new drugs that are being developed to treat the condition.

Read more: Fatty liver can lead to liver scarring and liver cancer. Here’s how to reverse it naturally. 

Christopher's story

Christopher was about six months old when he was admitted to KKH in 2017 due to prolonged bleeding from a wound. An initial test of his liver function revealed abnormalities; he was also suspected to be jaundiced.

Dr Veena, the child’s primary physician, shared: “As this was my first case of BASD, the initial challenge was to confirm the diagnosis. First- and second-line investigations were done to rule out common conditions and we concluded early that this was a rare metabolic disorder.” The results of a genetic test, which arrived after six weeks, confirmed the diagnosis.

Christopher commenced on cholic acid in July 2017 and responded extremely well. His liver function tests became normal eight months after treatment and have remained normal since. He has no features of fat malabsorption and is growing and developing normally.

Understandably, Christopher’s diagnosis has left his parents extremely worried about not only his well-being, but also the financial costs involved. Initial attempts to obtain assisted funding had been unsuccessful, but the family’s stress was somewhat alleviated when they found out about the Rare Disease Fund (RDF), which provides long-term financial support for patients with rare diseases that require treatment with high-cost medicines. The amount of aid disbursed varies, depending on factors such as the family’s income, the patient’s age and required dosage.

About the Rare Disease Fund

The RDF is a charity jointly set up by the Ministry of Health and SingHealth Fund in 2019. It is managed by the KKH Health Fund (part of the SingHealth Fund). The financial support is only possible through public giving, where every $1 is matched by $3 from the Government to boost impact of the RDF. Visit https://www.giving.sg/rare-disease-fund or scan the QR code below to find out more.

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