The CF drug Trikafta cured a gallbladder problem in a 23-year-old man

A young man with cystic fibrosis (CF) was free of gallbladder problems a year after starting treatment with the CF drug Trikafta, according to a case report from Italy.

“To our knowledge this is the first case reported in the literature” of Trikafta being effective in treating gallbladder disease, the researchers wrote.

The study, “Disappearance of gallbladder sludge and microlithiasis in a cystic fibrosis patient one year after initiation of triple therapy,” was published in the newspaper Clinical Case Reports.

CF is caused by mutations in the CFTR gene, which affects the production and activity of the CFTR protein. As a result, thick and slippery mucus builds up in the lungs, pancreas, liver and intestines, causing many of the symptoms of CF. This mucus can interfere with organ function and lead to inflammation and tissue damage.

CF patients also often have gallbladder problems. This small organ stores and secretes bile, produced by the liver, to help break down fat during digestion. Complications may include gallbladder dysfunction, small gallbladder (an abnormally small organ), and gallstones, a thick buildup of bile salts. Gallstones, or hard deposits of bile, affect about 15% of CF patients.

The patient’s gallbladder disease disappeared after 1 year of medication Trikafta

Trikafta, a CFTR modulator therapy consisting of the three compounds elexacaftor, tezacaftor and ivacaftor, is designed to address the cause of CF by improving the activity of the inactive CFTR protein. In the United States, treatment is approved for patients 2 years of age, who have at least one F508del mutation CFTR hereditary – the most common mutation that causes CF – or a mutation that responds to Trikafta in laboratory studies. In the European Union, the treatment is also approved for patients aged 2 years and older who have at least one F508del mutation.

The 23-year-old patient in the case report had the F508del mutation in one copy of CFTR gene, and a G85E missense mutation in one copy. The wrong mutation results in the wrong amino acids (building blocks) being added to the CFTR protein.

According to the researchers, the patient “showed a large amount of gallstones and microlithiasis,” a condition characterized by the accumulation of small amounts of calcium. At that time, the patient was treated with ursodeoxycholic acid, a bile acid.

A year after he started taking Trikafta, an ultrasound revealed that the gallbladder sludge and microlithiasis had disappeared.

Finally, gallstones, microlithiasis, gallbladder sludge, and micro-gallbladder are often reported in CF patients, and CFTR modulators can reverse gallbladder disease.

Additionally, during this time, the patient’s lung and sinus health improved, along with his lung function. The latter was assessed by forced expiratory volume in the first minute and forced vital capacity, standard measures of how much air a person is able to exhale after taking a deep breath. .

The authors also noted a slight increase in the patient’s bilirubin and transaminase levels during the first year of treatment. Elevated bilirubin and transaminase levels may indicate liver damage. However, the patient did not have any symptoms related to the liver, bile ducts, or gallbladder, according to the researchers.

“In conclusion, gallstones, microlithiasis, gallbladder sludge, and micro-gallbladder are often reported in CF patients, and CFTR modulators may reverse gallbladder disease, possibly reducing the viscosity of biliary secretions,” the team wrote.