Autoimmune Hepatitis (AIH) is a chronic fibroinflammatory disease of the liver characterized
by chronic, relapsing inflammation, and a risk for progression to liver failure and
development of hepatocellular cancer. Both children and adults are affected. A significant
fraction of patients with AIH has a diminished life expectancy, despite treatment. Around 80%
of patients respond to current therapies, but their quality of life and health is hugely
impaired by side effects. The remaining proportion of patients (the difficult-to-treat
category) do not respond to treatment and progress to liver cirrhosis and its complications;
thus, timely identification of these individuals is a key aspect of epidemiological research
in AIH.Taken together and combined with patients' debilitating quality of life issues, these
data highlight the considerable disease burden and clinical impact of AIH on patients'
outcomes.
Most epidemiological studies on AIH are retrospective case series based on tertiary referral
series with relevant selection biases. Population-based studies, that include all cases in a
defined geographical area, provide more accurate estimates of incidence, survival and
mortality rate for the individual with AIH. Typically, multiple case-finding approaches have
been used, including surveys, laboratory reports, liver histology databases, transplant
registries, and death certificates. Only few population-based studies have been performed and
limit the research population to a few dozen patients, reporting incidence rates ranging from
1.07 to 1.9 per 100,000 inhabitants. Reported point prevalence is 16.9 per 100,000.
To the investigators knowledge, there have been no epidemiologic studies in AIH carried out
in Italy.
The investigators aim to develop a national registry on this rare disease to describe
incidence and prevalence of AIH in Italy; identify and define distinct phenotypes and
sub-phenotypes of AIH patients; identify factors influencing the progression of AIH and
affecting mortality; assess safety and long-term efficacy of novel therapies.
This is a multicentre, nationwide, observational and prospective study based on the
development of a patient's database linked to a biological sample storage. The enrollment
period will cover 120 months to include the required number of patients. Based on litteraure,
the estimated prevalence of AIH in Italy ranges from 6,000 to 15,000. Based on this, the
investigators estimate to enroll approximately 10,000 patients. The minimum follow-up time
will be 1 year.