For the first time on this blog, we will discuss the case of a patient of Dr. Carreño because we believe it may be interesting and useful for our readers.
The patient, a 53-year-old woman, has a bile duct disorder. The liver contains a series of channels, known as bile ducts, which transport bile. Among other bile duct disorders, there is one called adult-onset mild idiopathic ductopenia, which was first described in 1997 by Dr. Carreño’s group in a study funded by the Foundation for the Study of Viral Hepatitis and published in the New England Journal of Medicine (NEJM 1997; 336: 835-838).
The disease involves the loss of less than 50% of the liver’s bile ducts, unlike the aggressive form of ductopenia in which the absence of bile ducts exceeds 50%. Patients with mild idiopathic ductopenia present with abnormal liver function tests (gamma-glutamyl transpeptidase, transaminases, alkaline phosphatase). This condition can only be diagnosed with a liver biopsy, which reveals a decreased number of bile ducts but without inflammation, destruction, or fibrosis. The prognosis for mild idiopathic ductopenia in adults is good, and the course is benign.
Cirrhosis caused by biliary cholangitis
There is another bile duct disease known as primary biliary cholangitis (PBC), which is much more aggressive. Liver biopsies of patients with primary biliary cholangitis reveal inflammation, destruction, and fibrosis. Primary biliary cholangitis tends to progress and, if left untreated, can lead to cirrhosis, unlike mild idiopathic ductopenia. The diagnosis of primary biliary cholangitis is made based on elevated liver function tests and the presence of positive antimitochondrial antibodies, and is confirmed by liver biopsy.
The patient in this case came to Dr. Carreño’s office in great distress because she had been diagnosed with primary biliary cholangitis by a gastroenterologist. Therefore, Dr. Carreño performed a liver biopsy, which revealed mild adult idiopathic ductopenia and ruled out primary biliary cholangitis. Furthermore, antimitochondrial antibodies were negative. Due to an inexplicable error, the patient had been misdiagnosed.
This case demonstrates the importance of seeking a second opinion when a patient has even the slightest doubt about a diagnosis or treatment for her/his condition.
