During the last 2 decades, an epidemiologic transition has happened across the world, which is especially noticeable in developing countries, and has resulted in an obvious shift from communicable infectious diseases to chronic non-communicable diseases .Little is known about the heritability of hepatic fibrosis, and the heritability of hepatic steatosis has not been assessed systematically in adults. Recent studies have suggested that there is a significant genetic association with the presence of hepatic steatosis. Lysosomal acid lipase (LAL) deficiency is a rare autosomal lysosomal storage disease. We described a novel mutation in the LIPA gene where the proband had liver cirrhosis without even noticing any symptoms, presenting only with low platelet counts

A 28-year-old girl presented to our clinic with a complaint of progressive low platelet count during the last 2 years. Her BMI was 21.09 kg/m2 and her spleen was palpable.Blood and tissue samples were collected from the family members with informed consent.Fatty liver was also present in one of her cousins (31 years old) and her father (51 years old) along with 2 uncles and 2 aunts. We performed genome-wide mapping to isolate candidate loci. We sequenced 7 members of this family all of whom are reported to have either fatty liver and/or liver cirrhosis.

There are three variants that they all share, but they are common in other populations, predicted benign by in silico methods (I.e. Poly Phen2/SIFT), and/or are not well conversed across species. We presented a family with six members having a novel mutation in the LIPA gene whom presented with fatty liver or cirrhosis.