title: Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines.
abstract: The 1991 introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3 cyclohexanedione (NTBC) as a treatment for hereditary tyrosinemia type 1 (HT-1), a disorder of tyrosine catabolism, has radically modified the natural history of this disorder. Despite the dramatic improvements in survival, outcomes and quality of life seen with NTBC treatment, HT-1 remains a chronic disorder with several long-term complications, including, a persistent (albeit low) risk of hepatocellular carcinoma and suboptimal neuropsychological outcomes. There remain unsolved key-questions concerning the long-term outcomes of patients with HT-1, which closely depend on the quality of follow-up in these patients. In the absence of published guidelines, we investigated the follow-up methods used for French and Belgian patients with HT-1. A simple questionnaire providing a rapid overview of follow-up procedures was sent to the 19 physicians in charge of HT-1 patients treated with NTBC and low-tyrosine diet in France and Belgium. Several areas of heterogeneity (especially liver imaging, slit lamp examination, neuropsychological evaluation and maximal plasma tyrosine level accepted) were observed. In an attempt to improve long-term management and outcome of patients with HT-1, we proposed follow-up recommendations.
authors.affiliation: APHP, Reference Center for Inherited Metabolic Disease, Hôpital Robert Debré, 75019 Paris, France. manuel.schiff@rdb.aphp.fr
authors.forename: Manuel
authors.initials: M
authors.lastname: Schiff
authors.forename: Pierre
authors.initials: P
authors.lastname: Broue
authors.forename: Brigitte
authors.initials: B
authors.lastname: Chabrol
authors.forename: Corinne
authors.initials: C
authors.lastname: De Laet
authors.forename: Dalila
authors.initials: D
authors.lastname: Habes
authors.forename: Karine
authors.initials: K
authors.lastname: Mention
authors.forename: Jacques
authors.initials: J
authors.lastname: Sarles
authors.forename: Anne
authors.initials: A
authors.lastname: Spraul
authors.forename: Vassili
authors.initials: V
authors.lastname: Valayannopoulos
authors.forename: Hélène
authors.initials: H
authors.lastname: Ogier de Baulny
mesh_terms: D001530:Belgium; D019468:Disease Management; D005500:Follow-Up Studies; D005602:France; D006801:Humans; D007668:Kidney / Q000378:metabolism; D008099:Liver / Q000378:metabolism; D008134:Long-Term Care / Q000379:methods*; D017410:Practice Guidelines as Topic; D011795:Surveys and Questionnaires; D014443:Tyrosine / Q000378:metabolism; D020176:Tyrosinemias / Q000178:diet therapy* / Q000378:metabolism / Q000628:therapy*
chemical_list: D014443:Tyrosine