Hepatic fibrosis: a manifestation of the liver disease evolution in patients with Ataxia-telangiectasia
Abstract Background Ataxia-telangiectasia (A-T) is a DNA repair disorder characterized by changes in several organs and systems. Advances in clinical protocols have resulted in increased survival of A-T patients, however disease progression is evident, mainly through metabolic and liver changes. Obj...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-05-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-023-02720-7 |
| _version_ | 1797831906958508032 |
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| author | Talita Lemos Neves Barreto Roberto José de Carvalho Filho David Carlos Shigueoka Fernando Luiz Affonso Fonseca Ariel Cordeiro Ferreira Cristiane Kochi Carolina Sanchez Aranda Roseli Oselka Saccardo Sarni |
| author_facet | Talita Lemos Neves Barreto Roberto José de Carvalho Filho David Carlos Shigueoka Fernando Luiz Affonso Fonseca Ariel Cordeiro Ferreira Cristiane Kochi Carolina Sanchez Aranda Roseli Oselka Saccardo Sarni |
| author_sort | Talita Lemos Neves Barreto |
| collection | DOAJ |
| description | Abstract Background Ataxia-telangiectasia (A-T) is a DNA repair disorder characterized by changes in several organs and systems. Advances in clinical protocols have resulted in increased survival of A-T patients, however disease progression is evident, mainly through metabolic and liver changes. Objective To identify the frequency of significant hepatic fibrosis in A-T patients and to verify the association with metabolic alterations and degree of ataxia. Methods This is a cross-sectional study that included 25 A-T patients aged 5 to 31 years. Anthropometric data, liver, inflammatory, lipid metabolism and glucose biomarkers (oral glucose tolerance test with insulin curve—OGTT) were collected. The Cooperative Ataxia Rating Scale was applied to assess the degree of ataxia. The following were calculated: Homeostasis Model Assessment—Insulin Resistance, Homeostasis Model Assessment—Adiponectin (HOMA-AD), Matsuda index, aspartate aminotransferase (AST): platelet ratio index, nonalcoholic fatty liver disease fibrosis score and BARD score. Liver ultrasonography and transient liver elastography by FibroScan® were performed. Results Significant hepatic fibrosis was observed in 5/25 (20%). Patients in the group with significant hepatic fibrosis were older (p < 0.001), had lower platelet count values (p = 0.027), serum albumin (p = 0.019), HDL-c (p = 0.013) and Matsuda index (p = 0.044); and high values of LDL-c (p = 0.049), AST (p = 0.001), alanine aminotransferase (p = 0.002), gamma-glutamyl transferase (p = 0.001), ferritin (p = 0.001), 120-min glycemia by OGTT (p = 0.049), HOMA-AD (p = 0.016) and degree of ataxia (p = 0.009). Conclusions A non-invasive diagnosis of significant hepatic fibrosis was observed in 20% of A-T patients associated with changes in liver enzymes, ferritin, increased HOMA-AD, and the severity of ataxia in comparison with patients without hepatic fibrosis. |
| first_indexed | 2024-04-09T14:00:21Z |
| format | Article |
| id | doaj.art-be57a6de5621436b85b498849929b3ac |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-09T14:00:21Z |
| publishDate | 2023-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-be57a6de5621436b85b498849929b3ac2023-05-07T11:23:29ZengBMCOrphanet Journal of Rare Diseases1750-11722023-05-0118111110.1186/s13023-023-02720-7Hepatic fibrosis: a manifestation of the liver disease evolution in patients with Ataxia-telangiectasiaTalita Lemos Neves Barreto0Roberto José de Carvalho Filho1David Carlos Shigueoka2Fernando Luiz Affonso Fonseca3Ariel Cordeiro Ferreira4Cristiane Kochi5Carolina Sanchez Aranda6Roseli Oselka Saccardo Sarni7Department of Pediatrics, Division of Allergy, Clinical Immunology and Rheumatology, Universidade Federal de São Paulo (UNIFESP)Department of Gastroenterology, Universidade Federal de São Paulo (UNIFESP)Department of Diagnostic Imaging, Universidade Federal de São Paulo (UNIFESP)Centro Universitário FMABCCentro Universitário FMABCFaculdade de Ciências Médicas da Santa Casa de São Paulo (FCMSCSP)Department of Pediatrics, Division of Allergy, Clinical Immunology and Rheumatology, Universidade Federal de São Paulo (UNIFESP)Centro Universitário Saúde FMABCAbstract Background Ataxia-telangiectasia (A-T) is a DNA repair disorder characterized by changes in several organs and systems. Advances in clinical protocols have resulted in increased survival of A-T patients, however disease progression is evident, mainly through metabolic and liver changes. Objective To identify the frequency of significant hepatic fibrosis in A-T patients and to verify the association with metabolic alterations and degree of ataxia. Methods This is a cross-sectional study that included 25 A-T patients aged 5 to 31 years. Anthropometric data, liver, inflammatory, lipid metabolism and glucose biomarkers (oral glucose tolerance test with insulin curve—OGTT) were collected. The Cooperative Ataxia Rating Scale was applied to assess the degree of ataxia. The following were calculated: Homeostasis Model Assessment—Insulin Resistance, Homeostasis Model Assessment—Adiponectin (HOMA-AD), Matsuda index, aspartate aminotransferase (AST): platelet ratio index, nonalcoholic fatty liver disease fibrosis score and BARD score. Liver ultrasonography and transient liver elastography by FibroScan® were performed. Results Significant hepatic fibrosis was observed in 5/25 (20%). Patients in the group with significant hepatic fibrosis were older (p < 0.001), had lower platelet count values (p = 0.027), serum albumin (p = 0.019), HDL-c (p = 0.013) and Matsuda index (p = 0.044); and high values of LDL-c (p = 0.049), AST (p = 0.001), alanine aminotransferase (p = 0.002), gamma-glutamyl transferase (p = 0.001), ferritin (p = 0.001), 120-min glycemia by OGTT (p = 0.049), HOMA-AD (p = 0.016) and degree of ataxia (p = 0.009). Conclusions A non-invasive diagnosis of significant hepatic fibrosis was observed in 20% of A-T patients associated with changes in liver enzymes, ferritin, increased HOMA-AD, and the severity of ataxia in comparison with patients without hepatic fibrosis.https://doi.org/10.1186/s13023-023-02720-7Ataxia-telangiectasiaHepatic fibrosisImage techniques by elasticityInsulin resistanceInflammation |
| spellingShingle | Talita Lemos Neves Barreto Roberto José de Carvalho Filho David Carlos Shigueoka Fernando Luiz Affonso Fonseca Ariel Cordeiro Ferreira Cristiane Kochi Carolina Sanchez Aranda Roseli Oselka Saccardo Sarni Hepatic fibrosis: a manifestation of the liver disease evolution in patients with Ataxia-telangiectasia Orphanet Journal of Rare Diseases Ataxia-telangiectasia Hepatic fibrosis Image techniques by elasticity Insulin resistance Inflammation |
| title | Hepatic fibrosis: a manifestation of the liver disease evolution in patients with Ataxia-telangiectasia |
| title_full | Hepatic fibrosis: a manifestation of the liver disease evolution in patients with Ataxia-telangiectasia |
| title_fullStr | Hepatic fibrosis: a manifestation of the liver disease evolution in patients with Ataxia-telangiectasia |
| title_full_unstemmed | Hepatic fibrosis: a manifestation of the liver disease evolution in patients with Ataxia-telangiectasia |
| title_short | Hepatic fibrosis: a manifestation of the liver disease evolution in patients with Ataxia-telangiectasia |
| title_sort | hepatic fibrosis a manifestation of the liver disease evolution in patients with ataxia telangiectasia |
| topic | Ataxia-telangiectasia Hepatic fibrosis Image techniques by elasticity Insulin resistance Inflammation |
| url | https://doi.org/10.1186/s13023-023-02720-7 |
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