Research Article Details
| Article ID: | A28349 |
| PMID: | 15544735 |
| Source: | Gastroenterol Hepatol |
| Title: | [Study of patients referred for elevated ferritin levels and/or transferrin saturation: significance of non-alcoholic fatty liver disease]. |
| Abstract: | OBJECTIVE: To determine the etiology of increased ferritin concentrations and/or transferrin saturation in patients in whom classical causes were ruled out. PATIENTS AND METHOD: We studied 43 patients (35 males and 8 females) who were referred for ferritinemia greater than 300 ng/ml and or a transferrin saturation index (TSI) greater than 40%. In all patients, glycemia, cholesterol, triglycerides, uric acid, total and fractionated bilirubin, transaminase, gammaglutamyltranspeptidase, sideremia, TSI, ferritin, HFE gene mutations, ceruloplasmin and total 24-hour urine porphyrin were evaluated and abdominal ultrasonography was performed. In 14 patients liver biopsy was performed. RESULTS: Fifty-three percent was overweight and 19% was obese. Alterations in carbohydrate metabolism were detected in 33%, hypercholesterolemia was found in 14%, hypertriglyceridemia in 35%, and hyperlipemia type IIb in 16%. Thirty-two percent showed isolated elevated ferritin, 12% had elevated TSI and 56% showed elevation of both. Transaminase levels were normal in 61%. No mutation in the HFE gene was found in 10 patients, the H63D/wt mutation was found in 18, C262Y/wt in 1, C282Y/H63D in 5, C282Y/C282Y in 4, H63D/H63D in 3 and Ser65cys/wt in 1. Ultrasonography revealed steatosis in 19 patients (44%). Definitive diagnoses were HFE-linked hemochromatosis (4 patients), juvenile hemochromatosis (1 patient), hepaticocutaneous porphyria (1 patient), and non-alcoholic fatty liver disease (22 patients; 51%). Most of the remaining patients could be included under insulin resistance syndrome. Phlebotomy was performed in 25 patients, with improvement in clinical and laboratory parameters. CONCLUSIONS: Non-alcoholic fatty acid disease is frequently detected in patients with iron metabolism disorders. These patients should undergo investigations for metabolic alterations and liver ultrasonography and, if necessary, biopsy. Phlebotomy can be useful in the treatment of these patients. |
| DOI: | 10.1016/s0210-5705(03)70517-2 |
| Strategy ID | Therapy Strategy | Synonyms | Therapy Targets | Therapy Drugs | |
|---|---|---|---|---|---|
| S01 | Improve insulin resistance | insulin sensitizer; insulin resistance; glucose tolerance | Biguanide: increases 5-AMP activated protein kinase signaling; SGLT-2 inhibitor; Thiazalidinedione: selective PPAR-γ agonists; GLP-1 agonist | Metformin; Empagliflozin; Canagliflozin; Rosiglitazone; Pioglitazone; Liraglutide | Details |
| Target ID | Target Name | GENE | Action | Class | UniProtKB ID | Entry Name |
|---|
| Diseases ID | DO ID | Disease Name | Definition | Class | |
|---|---|---|---|---|---|
| I13 | 3146 | Lipid metabolism disorder | An inherited metabolic disorder that involves the creation and degradation of lipids. http://en.wikipedia.org/wiki/Lipid_metabolism | disease of metabolism/ inherited metabolic disorder | Details |
| I05 | 9352 | Type 2 diabetes mellitus | A diabetes that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin. http://en.wikipedia.org/wiki/Diabetes, http://en.wikipedia.org/wiki/Diabetes_mellitus_type_2 | disease of metabolism/inherited metabolic disorder/ carbohydrate metabolic disorder/glucose metabolism disease/diabetes/ diabetes mellitus | Details |
| 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 |
| Drug ID | Drug Name | Type | DrugBank ID | Targets | Category | Latest Progress | |
|---|---|---|---|---|---|---|---|
| D328 | Serine | Chemical drug | DB00133 | SRR | Improve insulin resistance | Under clinical trials | Details |
| D272 | Phlebotomy | Miscellany | -- | -- | -- | Under clinical trials | Details |
| D083 | CLA | Chemical drug | DB01211 | KCNH2; SLCO1B1; SLCO1B3 | -- | Under clinical trials | Details |
| D182 | Insulin | Biological drug | DB00030 | INSR agonist; CPE modulator&product of | -- | Under clinical trials | Details |
| D316 | S-adenosyl-L-methionine | Chemical drug | DB00118 | GNMT cofactor | Antiviral | Under clinical trials | Details |