Hereditary deficiencies in synthesising primary bile acids are very rare diseases which are soon fatal without treatment.

In mid-2014, the only known cure was a liver transplant. In France, cholic acid, a major primary bile acid, has been used since the early 1990s in some deficiency cases, but its regulatory status was precarious. However at the end of 2013, a product containing cholic acid was granted an EU marketing authorisation.

In the clinical evaluation, half of the patients treated were monitored for over 17 years. None of the children treated with cholic acid died. A few rare patients, whose livers were already severely damaged when cholic acid treatment began, had a transplant. Conversely, infants who did not receive bile acid died during their first year. In short, provided treatment begins early, cholic acid prevents premature death of patients while avoiding a liver transplant.

Cholic acid also results in the disappearance of most symptoms: haemorrhage, rickets, etc.

The main known adverse effects are due to overdoses: nausea, vomiting, diarrhoea, pruritis. The long-term effects remain to be established. A few pregnancies carried out under cholic acid resulted in the birth of a healthy baby.

The capsules can be opened to mix their contents with milk or fruit juice without affecting their efficacy or causing any significant adverse effects. A drinkable form, which the company has pledged to develop, would enable the doses to be fine-tuned.

©Prescrire 1 February 2015

"Cholic acid (Orphacol°). Decisive in some hereditary bile acid deficiencies" Prescrire Int 2015; 24 (157): 36-37. (Pdf, subscribers only).