Idiopathic Non Cirrhotic Portal Hypertension and Spleno-Portal Axis Abnormalities in Patients with Severe Primary Antibody Deficiencies

Abstract

Background and Aim. Portal hypertension has been reported in association with acquired and primary immune deficiencies without a comprehensive description of associated spleno-portal axis abnormalities. Pathological mechanisms are poorly defined. Methods. Observational, single centre study with the aim of assessing the prevalence of spleno-portal axis abnormalities in an unselected cohort of 123 patients with primary antibody deficiencies and without known causes of liver diseases regularly followed up for a mean time of 18 ± 14 years. A cumulative period of 1867 patients-year was analysed. Clinical and immunological data, abdominal ultrasounds, CT scans, and endoscopy features were included in the analysis. Results. Twenty-five percent of patients with primary antibody deficiencies had signs of portal vein enlargement but only 4% of them had portal hypertension, with portal systemic collaterals. Liver biopsies showed liver sinusoids congestive dilatation, endothelization, and micronodularity fulfilling the criteria for noncirrhotic portal hypertension. Patients with portal vein enlargement had severe clinical and immunological phenotypes. Conclusions. In primary antibody deficient patients, infections, inflammations, splenomegaly, increased blood venous flow, and lymphocyte abnormalities contribute to establishment of liver damage possibly leading to noncirrhotic portal hypertension. Patients with primary antibody deficiency should be considered a good model to give insight into the pathological mechanisms underlying noncirrhotic portal hypertension.

Comprehensive Screening of Gene Function and Networks by DNA Microarray Analysis in Japanese Patients with Idiopathic Portal Hypertension

“…In Japan, IPH was officially added to the list of specific intractable diseases covered by the medical expense subsidy program in January of 2015. IPH has been reported to be associated with autoimmune abnormalities [ 10 , 11 , 24 ]; however, the exact pathophysiology of IPH remains unclear. In this study, we attempted, for the first time, to explore the features of IPH through comprehensive gene analysis with DNA microarrays.…”

Clinical features of idiopathic portal hypertension in China: A retrospective study of 338 patients and literature review

“…[7][8][9][10] The etiology of IPH is still not clear. Some of the proposed etiological factors have included immunologic disorders, [11][12][13][14][15][16] chronic infection with some bacteria or human immunodeficiency virus, 13,[17][18][19] medication and toxins, [20][21][22][23][24] gene mutation, [25][26][27][28][29] and some other etiologies like dialysis. 30 The main clinical symptoms of IPH are those caused by portal hypertension, including splenomegaly, hypersplenism, hepatomegaly, gastrointestinal bleeding, ascites, and portal vein thrombosis (PVT).…”

Idiopathic Portal Hypertension

“…IPH has become an area of interest in the Western world due to an increased incidence and better recognition of this entity. IPH occurs in patients with associated hematologic or autoimmune diseases, human immunodeficiency virus (HIV) under antiretroviral treatment, colorectal cancer treated with oxaliplatin, and inflammatory bowel disease treated with azathioprine . Also, patients with “cryptogenic cirrhosis” are commonly found to have IPH when they are extensively evaluated …”