Iron Overload and HFE Mutations: Are They Relevant in Cryptogenic Cirrhosis?

Castiella, Agustín

doi:10.5812/hepatmon.4875

Cited by 1 publication

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References 9 publications

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“…These entities are themselves increasingly associated with known causes such as non-alcoholic fatty liver disease (both obese and lean variants), underlying immunological disorders such as connective tissue diseases and celiac disease, and thrombophilia, but, in many cases, the etiology is still obscure [75][76][77]. Among potential genetic influences, it appears that hereditary hemochromatosis, the most common inherited disease in European populations, is not commonly associated with cryptogenic cirrhosis and secondary congestive splenomegaly [78]. In other historical reports, alleged idiopathic splenomegaly was likely attributable to post-malaria tropical splenomegaly syndrome [79] or to a preliminary stage of malignant lymphoma or other blood maligancy [80,81].…”

Section: Idiopathic or Cryptogenic Splenomegalymentioning

confidence: 99%

Splenomegaly, hypersplenism, and hereditary disorders with splenomegaly

Weinreb¹,

Rosenbloom²

2013

OJGen

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Splenomegaly, sometimes of massive extent, occurs in a large number of hereditary diseases, some relatively prevalent and others, rare to ultra-rare. Because physicians are often unfamiliar with the less common disorders, patients may suffer because of diagnostic delay or diagnostic error and may undergo invasive, non-innocuous procedures such as splenectomy that are potentially avoidable were the correct diagnosis suspected. In this review article, we discuss the definition and clinical ramifications of "massive" splenomegaly and describe several rare genetic disorders that are sometimes associated with marked splenic enlargement as well as four additional hereditary "splenomegalic" lysosomal storage diseases (cholesterol esterase storage disease, Niemann-Pick C disease, acid sphingomyelinase deficiency disease, Gaucher disease) in which approved or promising experimental treatments should generally obviate the need for palliative splenectomy. We also summarize current concepts about the appropriate use of splenectomy in patients with β-thalassemia, hereditary spherocytosis and Gaucher disease and discuss surgical alternatives to classical total splenectomy for these disorders.

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