Research Article Details
| Article ID: | A23545 |
| PMID: | 23694813 |
| Source: | Clin Chim Acta |
| Title: | Non-alcoholic steatohepatitis-related cirrhosis in a patient with APOB L343V familial hypobetalipoproteinaemia. |
| Abstract: | Familial hypobetalipoproteinaemia (FHBL) is a rare monogenic cause of hypocholesterolaemia. Increased liver transaminase concentrations and hepatic steatosis are a common occurrence in FHBL. Although FHBL subjects are protected against atherosclerotic cardiovascular disease, consequences of fatty liver in FHBL over the longer term are not known. We describe a case in which an obese woman with APOB L343V FHBL developed non-alcoholic steatohepatitis-related cirrhosis of the liver. Given the potential for progression to cirrhosis, it would seem prudent to serially monitor the livers of these individuals using biochemical and imaging techniques, particularly in the presence of known risk factors that lead to further liver injury, such as alcohol and caloric excess. |
| DOI: | 10.1016/j.cca.2013.03.004 |
| Strategy ID | Therapy Strategy | Synonyms | Therapy Targets | Therapy Drugs |
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| Target ID | Target Name | GENE | Action | Class | UniProtKB ID | Entry Name |
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| Diseases ID | DO ID | Disease Name | Definition | Class | |
|---|---|---|---|---|---|
| I14 | 9970 | Obesity | An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness. https://en.wikipedia.org/wiki/Obesity | disease of metabolism/acquired metabolic disease/ nutrition disease/overnutrition | Details |