DEAR DR. GOTT: I have been reading your column for years and have a question about Caroli’s disease. I was diagnosed with it a few years ago and am currently in remission or symptom-free at this time. I found out I had it by accident when I had a CT scan for some pain on my left side. The technician did a full scan of my abdomen and then over to my right side and told me to see a specialist. I went through a series of blood tests and then an MRI scan. The process took about two months before I was diagnosed.
My father and grandfather are now believed to have had the disease, but we did not know it at the time of their deaths. They both had liver and kidney problems and cancer. I have had my boys tested through a blood test, and they are negative for the disease. I have other siblings who also tested negative for it. They have children, but not all have been tested. So far, I am the only one in the family.
I went to a specialist who said I might not get the disease/symptoms at all, but if I do, there is medication and treatment available. Any advice would be appreciated.
DEAR READER: This rare, congenital disease/syndrome (that affects about one in every 1 million people) is a biliary-tree disorder characterized by abnormal dilation of the ducts that carry bile from the liver. There are two forms of Caroli’s — the disease and the syndrome. The disease occurs primarily in the main bile ducts and is not as common as the syndrome, which is associated with autosomal recessive polycystic kidney disease. While the disease is not inherited, the syndrome is, so you were correct in having your family tested.
Jacques Caroli, a French gastroenterologist, first described this condition in 1958. I don’t know when your father and grandfather were diagnosed, but my guess is that there wasn’t much known about the disease/syndrome at the time.
Symptoms include abdominal pain and, in rare instances, jaundice. Complications from portal hypertension may cause hematemesis and melena (the coughing up of blood or blood in the feces). In both instances, the bleeding results from ruptured veins. Fever and abdominal pain can result from infected bile.
As you have discovered, diagnosis is determined through lab testing of bilirubin levels, liver-function tests, blood cultures, biopsy, ultrasound, CT, MRI or ERCP (endoscopic retrograde cholangiopancreatography). PTC (percutaneous transhepatic cholangiography) is an invasive procedure, but visualization of the biliary tree is possible, and drainage catheters may be inserted to divert bile. While biliary intervention can be performed, the ducts can be difficult to access.
Treatment for Caroli’s disease includes antibiotics for cholangitis and ursodeoxycholic acid for hepatolithiasis. Surgical resection has been performed successfully, as has liver transplant.
You are lucky in that you do not suffer from any symptoms. Furthermore, you are under the care of a specialist who can monitor you on a timely basis.
Readers who would like additional information on specialists can order my Health Report “Medical Specialists” by sending a $2 check or money order made payable to Peter H. Gott, M.D., and mailed to P.O. Box 433, Lakeville, CT 06039-0433. Be sure to mention the title or print an order form off my website’s direct link at www.AskDrGottMD.com/order_form.pdf.
Additional information for this complex condition can be obtained through the American Liver Foundation, (800) 465-4837, at www.liverfoundation.org, or through the NIH at www.NIH.gov.