Book contents
- Frontmatter
- Contents
- Foreword by Anthony S. Tavill
- Preface
- 1 History of iron overload disorders
- 2 Normal iron absorption and metabolism
- 3 Iron toxicity
- 4 Tests for hemochromatosis and iron overload
- 5 Complications of hemochromatosis and iron overload
- 6 Insulin resistance and iron overload
- 7 Infections and immunity
- 8 Classical and atypical HFE hemochromatosis
- 9 Heterozygosity for HFE C282Y
- 10 Porphyria cutanea tarda
- 11 Mitochondrial mutations as modifiers of hemochromatosis
- 12 Hemochromatosis associated with ferroportin gene (SLC40A1) mutations
- 13 Hemochromatosis associated with hemojuvelin gene (HJV) mutations
- 14 Hemochromatosis associated with hepcidin gene (HAMP) mutations
- 15 Hemochromatosis associated with transferrin receptor-2 gene (TFR2) mutations
- 16 Iron overload associated with IRE mutation of ferritin heavy-chain gene (FTH1)
- 17 Hereditary hyperferritinemia-cataract syndrome: IRE mutations of ferritin light-chain gene (FTL)
- 18 Iron overload in Native Africans and African-Americans
- 19 Hereditary atransferrinemia
- 20 Divalent metal transporter-1 (SLC11A2) iron overload
- 21 Iron overload associated with thalassemia syndromes
- 22 Iron overload associated with hemoglobinopathies
- 23 Iron overload associated with pyruvate kinase deficiency
- 24 Iron overload associated with congenital dyserythropoietic anemias
- 25 Hereditary sideroblastic anemias
- 26 Pearson marrow–pancreas syndrome
- 27 Acquired sideroblastic anemias
- 28 Hereditary aceruloplasminemia
- 29 Friedreich ataxia and cardiomyopathy
- 30 Pantothenate kinase (PANK2)-associated neurodegeneration
- 31 Neuroferritinopathies
- 32 GRACILE syndrome
- 33 Neonatal hemochromatosis
- 34 Iron overload due to excessive supplementation
- 35 Localized iron overload
- 36 Management of iron overload
- 37 Population screening for hemochromatosis
- 38 Ethical, legal, and social implications
- 39 Directions for future research
- Index
- Plate section
- References
35 - Localized iron overload
Published online by Cambridge University Press: 01 June 2011
- Frontmatter
- Contents
- Foreword by Anthony S. Tavill
- Preface
- 1 History of iron overload disorders
- 2 Normal iron absorption and metabolism
- 3 Iron toxicity
- 4 Tests for hemochromatosis and iron overload
- 5 Complications of hemochromatosis and iron overload
- 6 Insulin resistance and iron overload
- 7 Infections and immunity
- 8 Classical and atypical HFE hemochromatosis
- 9 Heterozygosity for HFE C282Y
- 10 Porphyria cutanea tarda
- 11 Mitochondrial mutations as modifiers of hemochromatosis
- 12 Hemochromatosis associated with ferroportin gene (SLC40A1) mutations
- 13 Hemochromatosis associated with hemojuvelin gene (HJV) mutations
- 14 Hemochromatosis associated with hepcidin gene (HAMP) mutations
- 15 Hemochromatosis associated with transferrin receptor-2 gene (TFR2) mutations
- 16 Iron overload associated with IRE mutation of ferritin heavy-chain gene (FTH1)
- 17 Hereditary hyperferritinemia-cataract syndrome: IRE mutations of ferritin light-chain gene (FTL)
- 18 Iron overload in Native Africans and African-Americans
- 19 Hereditary atransferrinemia
- 20 Divalent metal transporter-1 (SLC11A2) iron overload
- 21 Iron overload associated with thalassemia syndromes
- 22 Iron overload associated with hemoglobinopathies
- 23 Iron overload associated with pyruvate kinase deficiency
- 24 Iron overload associated with congenital dyserythropoietic anemias
- 25 Hereditary sideroblastic anemias
- 26 Pearson marrow–pancreas syndrome
- 27 Acquired sideroblastic anemias
- 28 Hereditary aceruloplasminemia
- 29 Friedreich ataxia and cardiomyopathy
- 30 Pantothenate kinase (PANK2)-associated neurodegeneration
- 31 Neuroferritinopathies
- 32 GRACILE syndrome
- 33 Neonatal hemochromatosis
- 34 Iron overload due to excessive supplementation
- 35 Localized iron overload
- 36 Management of iron overload
- 37 Population screening for hemochromatosis
- 38 Ethical, legal, and social implications
- 39 Directions for future research
- Index
- Plate section
- References
Summary
Localized iron overload can sometimes occur in the lungs (pulmonary hemosiderosis) and the kidneys (renal hemosiderosis).
Pulmonary hemosiderosis
Idiopathic pulmonary hemosiderosis (IPH) (also known as Ceelen–Gellerstedt syndrome) is a rare disorder of unknown etiology characterized by recurrent episodes of diffuse alveolar hemorrhage and accumulation of storage iron in the lung parenchyma. It is most common in children (age 1 to 7 years) but can also occur in adults. Clinical manifestations of IPH include pulmonary symptoms (hemoptysis, dyspnea, cough), parenchymal lesions on chest X-ray, and iron deficiency anemia of unknown cause. Diagnosis depends on exclusion of other disorders, such as inflammatory pulmonary capillaritis, in which diffuse alveolar hemorrhage is a cardinal sign. The clinical course of IPH is variable; in chronic cases, the localized iron overload can result in pulmonary fibrosis, and death can sometimes occur due to pulmonary hemorrhage. Treatment includes supportive therapy and administration of corticosteroids that can be combined with other immunosuppressive agents, such as azathioprine. Successful resolution of some cases of IPH with immunosuppressive drugs suggests that an immunologic mechanism could be involved in the pulmonary capillary damage underlying alveolar bleeding which, in turn, leads to pulmonary iron accumulation.
Hematite miners and other workers chronically exposed to iron ore dust may develop iron overload of the lungs and adjacent lymph nodes, but serum iron measures are usually normal.
Renal hemosiderosis
Marked iron accumulation in the kidneys is rare in hemochromatosis, but when present, storage iron is usually located in cells of the tubules, particularly the convoluted tubules.
- Type
- Chapter
- Information
- Handbook of Iron Overload Disorders , pp. 319 - 320Publisher: Cambridge University PressPrint publication year: 2010