Endocrine Abstracts

Introduction: Liver involvement is frequent in Turner syndrome (TS) with a reported prevalence of abnormal liver function tests (LFTs) ranging 20–80%. Marked architectural changes and cirrhosis may be found in TS-women, associated with an increased incidence and risk of mortality.

Recent studies and guidelines recommended:

– monitoring annually all LFTs (International TS-Guidelines)

– to improve detection of liver disease, use Fibrosis-4 (FIB-4) score in patients with raised LTFs (EASL-EASD-EASO-Guidelines)

– perform abdominal ultrasound examination and liver stiffness measurement using Fibroscan in patients with unexplained elevated aminotransferases (EASL-EASD-EASO-Guidelines; Liver involvement in TS. Roulot D. Liver Int)

Aim: Audit to evaluate the current clinical practice in a large TS adult clinic in relation to the screening/management of liver abnormality against the aforementioned standards.

Methods: Data on 102 women with TS attending the adult TS-clinic over a one-year period (1/2015-1/2016) were retrospectively collected.

Results: Annually LFTs were performed in 98% of women for ALT, 37.2% for AST, 69.6% for GGT and ALP. There was a higher prevalence of LFT measurements among women who were previously diagnosed with LFT abnormalities, in particular for AST 33.9% (21/62) vs 42.5% in women with a history of LFT elevation and for GGT 66.1% (41/62) vs 75% (30/40).

Among patients with persistently elevated aminotransferases (20/102),

– FIB-4 was calculable in 55% (11/20) because of AST missing measurement, but only 54.5% (6/11) had a FIB-4 calculated

– 80% (16/20) were referred for liver ultrasound examination

– 50% (10/20) were referred for Fibroscan

Discussion: It is encouraging that LFTs were checked in the majority of TS-women, but AST being not part of the standard routine was only checked in 37%. There was a higher compliance for monitoring all LFTs among women who were previously known to have LFT abnormalities. The FIB-4 index was calculated in half of patients with persistently raised LFTs. The liver ultrasound was performed in the majority of women, while the Fibroscan was requested only in half of those. The newer investigations highlighted areas where the clinical approach with regard to the assessment/management of liver involvement in TS could be improved. We suggest the following strategies and a reaudit in one-year time: a) use pre-printed blood forms to include all LFT panel; b) add into the TS-clinic record form the previous LFTs results and related FIB-4 index; c) upload onto the clinic computers the online Fib-4 calculators; d) programme multidisciplinary meeting with the hepatologists.