Management of a patient with common variable immunodeficiency and hepatopathy

Grümme, Lea; Schulze-Koops, Hendrik (2023): Management of a patient with common variable immunodeficiency and hepatopathy. Allergy, Asthma & Clinical Immunology, 19 (1). ISSN 1710-1492

Abstract

Background
Common variable Immunodeficiency (CVID) is a primary immunodeficiency disorder and the most common form of severe antibody deficiency. Both children and adults are affected and clinical manifestations vary widely. Often, CVID manifests with infections, autoimmune phenomena or chronic lung disease, but it also frequently affects the liver. The differential diagnoses of hepatopathies in CVID patients are diverse and the characteristics of CVID patients often make it difficult to determine the correct diagnosis.

Case presentation
We present the case of a 39-year-old patient with CVID and elevated liver enzymes, nausea and unintended weight loss, who was referred to our clinic with the suspected diagnose of autoimmune hepatitis or immunoglobulin-induced hepatopathy. Prior, the patient had undergone an extensive diagnostic work-up including liver biopsy but viral hepatitides had only been investigated serologically – with negative antibody results. We searched for viral nucleic acid by polymerase chain reaction and detected hepatitis E virus-RNA. Antiviral therapy was started and the patient recovered quickly.

Conclusion
Hepatopathies in CVID patients are common with a broad spectrum of possible causes. While treating CVID patients, the distinct diagnostic and therapeutic requirements of the CVID patients should be closely considered and diagnosed by the appropriate measures.

Background
Common variable Immunodeficiency (CVID) is a primary immunodeficiency disorder characterized by impaired B-cell differentiation and defective immunoglobulin (Ig) synthesis. This results in a decreased serum concentration of immunoglobulins, usually IgG, often IgA and sometimes IgM. Both children and adults are affected, with most patients being diagnosed between the age of 20 and 40 due to frequently occurring delayed diagnosis [1, 2]. CVID is the most common form of severe antibody deficiency [1]. The manifestations of CVID vary widely, hence the term “variable” in the name of the disease. Patients have a significantly increased risk of developing non-Hodgkin’s lymphoma and the most common clinical manifestations of CVID are infections, autoimmune phenomena, and chronic lung disease. However, liver disease is also present in approximately 10% of CVID patients [3,4,5]. These patients often show elevated alkaline phosphatase and liver dysfunction [4]. Often, anicteric cholestasis and/or portal hypertension are also present [6]. Patients may otherwise be asymptomatic or have complaints of fatigue, jaundice, pruritus, ascites, edema, nausea, vomiting, esophageal varices, and hepato- or splenomegaly [7]. Possible differential diagnoses of liver disease in patients with CVID include infections, autoimmune reactions, lymphoproliferation, malignancies, granulomas, infiltration of inflammatory cells, and intrahepatic biliary obstruction [8]. For further diagnostic workup and initiation of adequate therapy of the liver involvement, the special requirements of CVID patients must be taken into account. This leads to specific diagnostic and therapeutic consequences in the treatment of hepatopathies in CVID patients.

• Dokumententyp: Artikel (Klinikum der LMU)
• Organisationseinheit (Fakultäten): 07 Medizin > Klinikum der LMU München > Medizinische Klinik und Poliklinik IV (Endokrinologie, Nephrologie, weitere Sektionen)
• DFG-Fachsystematik der Wissenschaftsbereiche: Lebenswissenschaften
• DFG: Gefördert durch die Deutsche Forschungsgemeinschaft (DFG) - 491502892