Abstract | BACKGROUND: CASE SUMMARY: The siblings were compound heterozygous for the missense variant in LIPA exon 8, c.894G>A, (p.Gln298Gln) and a single base pair deletion, c.482del (p.Asn161Ilefs*19). Analyses of single nucleotide polymorphisms showed variants with an increased risk of fatty liver disease and fibrosis for both patients. Clinically, both patients show signs of recurrence of CESD in the liver after transplantation and additional gastrointestinal and cardiovascular signs of CESD. Three family members who were LIPA heterozygous had a lysosomal acid lipase activity below the reference value. One of these carriers, a seven-year-old boy, was found to have severe dyslipidemia and was subsequently treated with statins. CONCLUSION: Our study underlines that CESD is a multi-organ disease, the progression of which may occur post- liver transplantation. Our findings underline the need for monitoring of complications and assessment of possible further treatment.
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Authors | Elias Badal Rashu, Anders Ellekær Junker, Karen Vagner Danielsen, Emilie Dahl, Ole Hamberg, Line Borgwardt, Vibeke Brix Christensen, Nicolai J Wewer Albrechtsen, Lise L Gluud |
Journal | World journal of clinical cases
(World J Clin Cases)
Vol. 8
Issue 9
Pg. 1642-1650
(May 06 2020)
ISSN: 2307-8960 [Print] United States |
PMID | 32432142
(Publication Type: Case Reports)
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Copyright | ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved. |