Metabolic liver diseases

Metaboličke bolesti jetre obuhvaćaju širok spektar eniteta, kod kojih zbog poremećaja metabolizma neke tvari, dolazi do pogoršanja funkcije jetre. Najrašireniji entitet ove skupine je nealkoholna masna bolest jetre, s incidencijom u stalnom porastu, dok su neki od entiteta rijetki u općoj populaciji, poput familijarne amiolidotične polineuropatije i primarne hiperoksalurije tip 1. Kliničke manifestacije ovih bolesti su izrazito varijabilne, te se pojedini poremećaji, poput bolesti nakupljanja glikogena tip 1a i primarne hiperoksalurije tip 1, manifestiraju još u novorođenačkoj dobi, dok se npr. Wilsonova bolest ili manjak alfa-1 antitripsina javljaju kasnije, te se ovisno o dominantnoj simptomatologiji, dijagnosticiraju dugo nakon pojave prvih simptoma. Uz funkcionalne abnormalnosti jetre, klinička slika može uključivati i brojne ekstrahepatalne manifestacije, poput plućnog emfizema kod manjka A1AT, hiperpigmentacija i dijabetesa kod nasljedne hemokromatoze, Kayser-Fleischerovih prstenova te neuropsihijatrijskih simptoma kod Wilsonove bolesti, parestezija i mišićne slabosti kod familijarne amiolidotične polineuropatije. Rad, uz sažeti prikaz patofizioloških mehanizama i kliničkih prezentacija ovih bolesti, iznosi izazove prilikom njihove dijagnostike i liječenja.Metabolic liver diseases encompass a wide range of entities which, due to a disorder of metabolism of a certain substance, deteriorate liver function. The most widespread entity of this group is the nonalcoholic fatty liver disease, with an incidence in constant rise, while some of the other entities are quite rare in the general population, such as familial amyloid polyneuropathy and primary hyperoxaluria type 1. The clinical manifestations of these diseases are highly variable and certain disorders manifest themselves already in the neonatal period, such as glycogen storage disease type 1a and primary hyperoxaluria type 1, whereas others, like Wilson's disease or alpha-1 antitrypsin deficiency, occur much later and are diagnosed long after the onset of the first symptoms, depending on the dominant symptomatology. In addition to functional abnormalities of the liver, the clinical manifestations may include a number of extrahepatic manifestations, such as pulmonary emphysema in A1AT deficiency, hyperpigmentations and diabetes in hereditary hemochromatosis, Kayser-Fleischer rings and neuropsychiatric symptoms in Wilson's disease, paresthesia and muscle weakness in familial amyloid polyneuropathy. This paper brings forth the challenges faced during the diagnosis and treatment of metabolic liver diseases in general, as well as a summary of the pathophysiological mechanisms and clinical presentation of these diseases