Low phospholipid-associated cholelithiasis is a rare disease that affects the digestive system, mainly the bile that works to break down fats in the intestines. Normally, bile contains a lot of phospholipids, but in individuals with this condition, there is a very low level of phospholipids. The bile with low phospholipids cannot function or flow properly, and this causes problems in the digestive system. The two most common symptoms of low phospholipid-associated cholelithiasis are cholesterol gallstones, which are yellow deposits of bile that form in the gallbladder, and intrahepatic stones, which are stones in the liver ducts. These gallstones that accumulate in the liver and gallbladder can cause indigestion, pain in the abdomen, and nausea.
This condition normally appears in adulthood but most of the time before 40 years of age. It is associated with a change in the ABCB4 gene, which plays a role in creating bile. When this gene is not working right, it causes bile with low phospholipid content to be made, which prevents the normal flow of bile. This also increases the number of gallstones produced. This disease can be diagnosed by medical tests like an ultrasound scan of the abdomen, an MRI scan, or a CT scan, and can be confirmed by doing genetic tests to look for changes in the ABCB4 gene.
Treatment for this condition includes taking a bile acid that can help dissolve the gallstones, which decreases symptoms and prevents complications in many cases. If you or a family member has been diagnosed with low phospholipid-associated cholelithiasis, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.