001589 - Prevalence of non-alcoholic steatohepatitis in adult patients with hereditary angioedema due to C1-inhibitor deficiency (HAE-C1INH)

Hereditary angioedema due to C1-inhibitor deficiency (HAE-C1INH) is a rare disease characterized by recurrent episodes of angioedema resulting from a lack of regulation in the contact activation system.

It has been proposed that HAE-C1INH may be a hepatic metabolic disease that increases the risk of developing non-alcoholic steatohepatitis (NASH), even in patients who have never received long-term prophylaxis (LTP) with attenuated androgens (AAs), such as stanozolol or danazol.

Although AAs are no longer the first-line treatment for LTP, they were widely used in previous years. These drugs undergo hepatic metabolism and may cause hepatotoxicity as a side effect. Consequently, abdominal ultrasounds and blood liver enzyme tests are performed to monitor for adverse effects.

To explore this further, we compared the prevalence of NASH in patients with HAE-C1INH who had previously received LTP with AAs to those who had not.

This retrospective study was approved by the Ethics Committee (PI-4598). We included 118 adult patients with confirmed HAE-C1INH who had undergone at least one abdominal ultrasound with a written echographist report available to determine the presence or absence of NASH and anthropometric data also available to calculate their body mass index (BMI). Additionally, we reviewed their clinical histories to verify whether they had previously received LTP with AAs.

Eighty of the 118 included patients had NASH (67.8%). Among[TC1]  the patients with NASH, 73.7% had not previously received LTP with AAs, which was similar to the 70.0% of patients without NASH (Table 1). Furthermore, patients with NASH had a higher median BMI compared to those without NASH.

Some limitations of this study include its retrospective design and a potential bias in the prescription of AAs for patients with NASH, as it was considered a relative contraindication for LTP with attenuated androgens.

Although many factors may contribute to the development of NASH, our findings support the hypothesis that LTP with attenuated androgens is not a determining factor in the development of NASH in patients with HAE-C1INH.