Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*)
Metabolic associated fatty liver disease became the most common form of chronic liver disease, in the vast majority of the cases related to increased insulin resistance or metabolic dysregulation. Yet, other causes may be implied. We report the late diagnosis of Dorfman-Chanarin syndrome in a non-al...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Karger Publishers
2021-07-01
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| Series: | GE: Portuguese Journal of Gastroenterology |
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| Online Access: | https://www.karger.com/Article/FullText/517103 |
| _version_ | 1818681919258230784 |
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| author | Rita Quelhas da Costa Francisco Laranjeira Isaura Duarte Ribeiro António Filipe Santos Filipe Nery |
| author_facet | Rita Quelhas da Costa Francisco Laranjeira Isaura Duarte Ribeiro António Filipe Santos Filipe Nery |
| author_sort | Rita Quelhas da Costa |
| collection | DOAJ |
| description | Metabolic associated fatty liver disease became the most common form of chronic liver disease, in the vast majority of the cases related to increased insulin resistance or metabolic dysregulation. Yet, other causes may be implied. We report the late diagnosis of Dorfman-Chanarin syndrome in a non-alcoholic steatohepatitis previously labeled cirrhotic middle-aged man, with consanguineous parents, complicated with hepatocellular carcinoma. Congenital ichthyosis, neurosensory hearing loss and elevated muscular enzymes hit on the track of Dorfman-Chanarin syndrome. The genetic analysis uncovered a first-time described homozygotic nonsense mutation in the ABHD5 gene, responsible for coding the ABHD5 protein. The patient was successfully submitted to liver transplantation. Inborn errors of metabolism are a rare cause of metabolic associated fatty liver disease, but they need to be kept in consideration in all patients who present with atypical clinical features. This shall raise the awareness of physicians to rare forms of presentation since it may imply not only a different prognosis, but also other actions, like particular therapies as liver transplantation due to related complications of cirrhosis, or familial screening. |
| first_indexed | 2024-12-17T10:10:36Z |
| format | Article |
| id | doaj.art-8c1c9ab2b3db4316932084b66883a011 |
| institution | Directory Open Access Journal |
| issn | 2341-4545 2387-1954 |
| language | English |
| last_indexed | 2024-12-17T10:10:36Z |
| publishDate | 2021-07-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | GE: Portuguese Journal of Gastroenterology |
| spelling | doaj.art-8c1c9ab2b3db4316932084b66883a0112022-12-21T21:53:03ZengKarger PublishersGE: Portuguese Journal of Gastroenterology2341-45452387-19542021-07-011710.1159/000517103517103Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*)Rita Quelhas da Costa0https://orcid.org/0000-0003-1492-8929Francisco Laranjeira1Isaura Duarte Ribeiro2António Filipe Santos3Filipe Nery4https://orcid.org/0000-0001-6644-2985Serviço de Medicina, Centro Hospitalar Universitário do Porto, Porto, PortugalUnidade de Bioquímica Genética, Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, Porto, PortugalUnidade de Bioquímica Genética, Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, Porto, PortugalServiço de Hematologia Laboratorial, Centro Hospitalar Universitário do Porto, Porto, PortugalServiço de Cuidados Intensivos – Unidade de Cuidados Intermédios Médico-Cirúrgica, Centro Hospitalar Universitário do Porto, Porto, PortugalMetabolic associated fatty liver disease became the most common form of chronic liver disease, in the vast majority of the cases related to increased insulin resistance or metabolic dysregulation. Yet, other causes may be implied. We report the late diagnosis of Dorfman-Chanarin syndrome in a non-alcoholic steatohepatitis previously labeled cirrhotic middle-aged man, with consanguineous parents, complicated with hepatocellular carcinoma. Congenital ichthyosis, neurosensory hearing loss and elevated muscular enzymes hit on the track of Dorfman-Chanarin syndrome. The genetic analysis uncovered a first-time described homozygotic nonsense mutation in the ABHD5 gene, responsible for coding the ABHD5 protein. The patient was successfully submitted to liver transplantation. Inborn errors of metabolism are a rare cause of metabolic associated fatty liver disease, but they need to be kept in consideration in all patients who present with atypical clinical features. This shall raise the awareness of physicians to rare forms of presentation since it may imply not only a different prognosis, but also other actions, like particular therapies as liver transplantation due to related complications of cirrhosis, or familial screening.https://www.karger.com/Article/FullText/517103dorfman-chanarin syndromeinborn errors of metabolismmetabolic associated fatty liver diseaseliver transplantation |
| spellingShingle | Rita Quelhas da Costa Francisco Laranjeira Isaura Duarte Ribeiro António Filipe Santos Filipe Nery Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*) GE: Portuguese Journal of Gastroenterology dorfman-chanarin syndrome inborn errors of metabolism metabolic associated fatty liver disease liver transplantation |
| title | Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*) |
| title_full | Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*) |
| title_fullStr | Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*) |
| title_full_unstemmed | Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*) |
| title_short | Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*) |
| title_sort | dorfman chanarin syndrome a rare cause of metabolic associated fatty liver disease related to homozygosity of the nonsense mutation c 934c x3e t p r312 |
| topic | dorfman-chanarin syndrome inborn errors of metabolism metabolic associated fatty liver disease liver transplantation |
| url | https://www.karger.com/Article/FullText/517103 |
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