CF medication Trikafta effective in man’s gallbladder issues: Case report
Such complications disappeared in 23-year-old after a year on the therapy
A young man with cystic fibrosis (CF) no longer had gallbladder complications one year after starting treatment with the CF medication Trikafta, according to a case report from Italy.
“To the best of our knowledge this is the first case reported in literature” of Trikafta successfully treating gallbladder disease, the researchers wrote.
The study, “Gallbladder sludge and microlithiasis disappearance in a cystic fibrosis patient 1 year after triple combination therapy initiation,” was published in the journal Clinical Case Reports.
CF is caused by mutations in the CFTR gene, affecting the production and function of the CFTR protein. As a result, thick and sticky mucus builds up inside the lungs, pancreas, liver, and intestine, causing most CF symptoms. This mucus can interfere with organ function and lead to inflammation and tissue damage.
CF patients also frequently experience gallbladder issues. This small organ stores and releases bile, produced by the liver, to help break down fats during digestion. Complications may include gallbladder dysfunction, micro-gallbladder (in which the organ is abnormally small), and sludge, a thick buildup of bile salts. Gallstones, or hardened deposits of bile, affect about 15% of CF patients.
Patient’s gallbladder disease disappeared after 1 year on the medication Trikafta
Trikafta, a CFTR modulator therapy that contains the triple combination of elexacaftor, tezacaftor and ivacaftor, is designed to address the underlying cause of CF by improving the function of the defective CFTR protein. In the U.S., the treatment is approved for patients as young as 2, who have at least one F508del mutation in the CFTR gene — the most common CF-causing mutation — or a mutation that responds to Trikafta in laboratory studies. In the European Union, the therapy is also approved for patients ages 2 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 the CFTR gene, and a G85E missense mutation in the other copy. A missense mutation results in incorrect amino acids (the building blocks of proteins) being incorporated into the CFTR protein.
According to the researchers, the patient “showed a huge amount of gallbladder sludge and microlithiasis,” a condition characterized by tiny calcium deposits. At that time, the patient was being treated with ursodeoxycholic acid, a bile acid.
One year after starting on the medication Trikafta, an ultrasound revealed that his gallbladder sludge and microlithiasis had disappeared.
In conclusion, gallstones, microlithiasis, gallbladder sludge, and micro-gallbladder are frequently reported in CF patients, and CFTR modulators could modify gallbladder disease.
Additionally, during this time, the patient’s lung and sinus health improved, as did his pulmonary function. The latter was assessed with forced expiratory volume in the first second and forced vital capacity, both standard measures reflecting how much air a person is able to exhale after a deep breath.
The authors also noted a mild increase in the patient’s bilirubin and transaminase levels during the first year of treatment. High bilirubin and transaminase may indicate liver damage. However, the patient did not experience any symptoms related to the liver, bile ducts, or gallbladder, according to the researchers.
“In conclusion, gallstones, microlithiasis, gallbladder sludge, and micro-gallbladder are frequently reported in CF patients, and CFTR modulators could modify gallbladder disease, probably reducing biliary secretions viscosity,” the team wrote.
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