Question/Clinical Case:
A 68-year old woman presented to our center for further evaluation of elevated liver
function tests. She reported a 20 years history of elevated liver enzymes. Histology
results similarly demonstrated microvesicular fatty liver with minimal fibrosis. Re-examination
of a biopsy taken in 2008 did already show foamy macrophages which had been overlooked
at that time. In line with the patient's metabolic profile, her case was treated as
NASH-related although histological criteria were not fulfilled completely.
Methods:
After referral to our center, we performed enzymatic dry blood spot (DBS) test which
showed reduced Liposomal Acid Lipase (LAL) activity. Another liver biopsy was taken
which now showed fibrosis stage III, a mixed pattern of steatosis as well as discernible
macrophages transformed into foamy cells. In addition, we had the unique opportunity
to perform electron microscope (EM) examination, which is a rare possibility for this
disease.
Results:
EM pictures revealed pathognomonic membrane-bound lipid drops within the lysosome
of hepatocytes clearly proving the diagnosis of LAL-D. Subsequently, treatment with
Sebelipase alpha was initiated.
Conclusions:
Usually, the median age of first reported manifestation of LAL-D is around 5 years
and 83% of cases manifested by an age of 12. However, disproportionately younger age
of LAL-D patients compared with the general population suggests that many LAL-D patients
may be missed; possibly even die prior to diagnosis. Our patient had a slowly progressive
form although no enzyme activity was detected. Indeed, it took her more than 20 years
to progress from stage I to III fibrosis. This slow progression is actually a hallmark
in NAFLD.
