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Pulmonary Haemosiderosis Secondary to Hereditary Haemochromatosis; a Case Report

INTRODUCTION: Hereditary haemochromatosis (HH) is an autosomal recessive disease of increased intestinal absorption of iron, leading to accumulation in tissues which may progress to organ damage, most commonly in the liver. Iron deposition in the liver can lead to cirrhosis and hepatocellular carcin...

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Autores principales: Jehangir, Waqas, Karabachev, Alexander D., Umyarova, Elvira R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore. Pakistan 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10166317/
https://www.ncbi.nlm.nih.gov/pubmed/37197141
http://dx.doi.org/10.37029/jcas.v6i1.281
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author Jehangir, Waqas
Karabachev, Alexander D.
Umyarova, Elvira R.
author_facet Jehangir, Waqas
Karabachev, Alexander D.
Umyarova, Elvira R.
author_sort Jehangir, Waqas
collection PubMed
description INTRODUCTION: Hereditary haemochromatosis (HH) is an autosomal recessive disease of increased intestinal absorption of iron, leading to accumulation in tissues which may progress to organ damage, most commonly in the liver. Iron deposition in the liver can lead to cirrhosis and hepatocellular carcinoma. Other common manifestations of haemochromatosis include diabetes, bronzing of the skin, arthropathy and cardiomyopathy. Here, we describe a case of pulmonary haemosiderosis secondary to HH. CASE DESCRIPTION: A 49-year-old male with no medical history or family history of iron overload presented with fatigue, shortness of breath and chest pain after a recent finding of elevated ferritin. The patient was found to have biallelic C282Y mutations of the human homeostatic iron regulator protein (HFE) protein and after further workup with laboratory tests and imaging was diagnosed with HH with secondary pulmonary haemosiderosis. The patient is receiving twice weekly phlebotomies and has had an overall improvement in his symptoms. PRACTICAL IMPLICATIONS: The presentation of haemochromatosis can vary widely depending on the severity of iron overload and the presence of conditions that predispose organ dysfunction. Pulmonary haemosiderosis is a very rare manifestation of HH. This report illustrates the various manifestations of this disease and provides insight into this rare presentation to improve the diagnosis of this disease.
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spelling pubmed-101663172023-05-16 Pulmonary Haemosiderosis Secondary to Hereditary Haemochromatosis; a Case Report Jehangir, Waqas Karabachev, Alexander D. Umyarova, Elvira R. J Cancer Allied Spec Case Report INTRODUCTION: Hereditary haemochromatosis (HH) is an autosomal recessive disease of increased intestinal absorption of iron, leading to accumulation in tissues which may progress to organ damage, most commonly in the liver. Iron deposition in the liver can lead to cirrhosis and hepatocellular carcinoma. Other common manifestations of haemochromatosis include diabetes, bronzing of the skin, arthropathy and cardiomyopathy. Here, we describe a case of pulmonary haemosiderosis secondary to HH. CASE DESCRIPTION: A 49-year-old male with no medical history or family history of iron overload presented with fatigue, shortness of breath and chest pain after a recent finding of elevated ferritin. The patient was found to have biallelic C282Y mutations of the human homeostatic iron regulator protein (HFE) protein and after further workup with laboratory tests and imaging was diagnosed with HH with secondary pulmonary haemosiderosis. The patient is receiving twice weekly phlebotomies and has had an overall improvement in his symptoms. PRACTICAL IMPLICATIONS: The presentation of haemochromatosis can vary widely depending on the severity of iron overload and the presence of conditions that predispose organ dysfunction. Pulmonary haemosiderosis is a very rare manifestation of HH. This report illustrates the various manifestations of this disease and provides insight into this rare presentation to improve the diagnosis of this disease. Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore. Pakistan 2020-01-06 /pmc/articles/PMC10166317/ /pubmed/37197141 http://dx.doi.org/10.37029/jcas.v6i1.281 Text en Copyright: © 2020 Jehangir, et al. https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Case Report
Jehangir, Waqas
Karabachev, Alexander D.
Umyarova, Elvira R.
Pulmonary Haemosiderosis Secondary to Hereditary Haemochromatosis; a Case Report
title Pulmonary Haemosiderosis Secondary to Hereditary Haemochromatosis; a Case Report
title_full Pulmonary Haemosiderosis Secondary to Hereditary Haemochromatosis; a Case Report
title_fullStr Pulmonary Haemosiderosis Secondary to Hereditary Haemochromatosis; a Case Report
title_full_unstemmed Pulmonary Haemosiderosis Secondary to Hereditary Haemochromatosis; a Case Report
title_short Pulmonary Haemosiderosis Secondary to Hereditary Haemochromatosis; a Case Report
title_sort pulmonary haemosiderosis secondary to hereditary haemochromatosis; a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10166317/
https://www.ncbi.nlm.nih.gov/pubmed/37197141
http://dx.doi.org/10.37029/jcas.v6i1.281
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