Common Variable Immune Deficiency With Atypical Hepatic Disease
American Journal of Gastroenterology
Common variable immunodeficiency (CVID) is a primary B-cell immunodeficiency disorder leading to hypogammaglobulinemia. Liver involvement may rely on immune dysregulation and includes abnormal liver biochemistries, primarily elevation of alkaline phosphatase (ALP), nodular regenerative hyperplasia (NRH) leading to chronic cholestasis, portal hypertension, and disruption of liver function. We present a case of CVID with atypical liver involvement on imaging and biopsy revealing focal nodular hyperplasia.
A 24-year-old female with a past medical history of CVID on Intravenous immunoglobulin (IVIG) present for follow-up with chronically elevated liver enzymes that is a cholestatic pattern (ALP 1050 U/L, AST 114 U/L, ALT 214 U/L, Total bilirubin 1.0 mg/dL) along with normal synthetic liver function. Previous comprehensive work up including autoimmune (Antinuclear, Anti-smooth muscle, anti-mitochondrial antibodies) were negative. Viral hepatitis including Hepatitis B, Hepatitis C, Herpes simplex, Varicella zoster, and Epstein Barr viruses polymerase chain reaction were all negative. other causes of elevated liver enzymes including genetic and metabolic work up all came back negative. The medications list included Ursodiol and Multivitamins. She reports no alcohol, recreational or herbal drugs use. She underwent liver protocol magnetic resonance imaging and magnetic resonance cholangiopancreatography that showed no biliary tree abnormalities, Innumerable hepatic lesions with characteristics suggestive of multiple focal nodular hyperplasias largest measures up to 3.8 cm, two benign hepatic hemangiomas with the larger measuring 1.9 cm and splenomegaly. Ultrasound-guided biopsy of the left hepatic lobe showed concern for focal nodular hyperplasia (confirmed by an outside pathologist at another liver transplant center) with unremarkable trichrome and PAS stains (Figure).
At least 10% of CVID patients present with liver involvement, including anicteric cholestatic liver enzymes (65%) and portal hypertension (50%). Histological analysis in recent studies revealed non-fibrosing architectural abnormalities consistent with nodular regenerative hyperplasia in 84% of CVID and less commonly, typical histologic features of primary biliary cholangitis. Our case liver imaging and biopsy read by 2 pathologists (2 institutions) revealed focal nodular hyperplasia, a new entity not described in previous studies.
Al-Hillan A, Wakil A, Lazar N, Alsibae M. Common variable immunodeficiency with atypical hepatic disease. Am J Gastroenterol. 2022 Oct;117(10 Suppl):e1930. doi:10.14309/01.ajg.0000868536.46880.84.