Osteoporosis in HFE2 juvenile hemochromatosis. A case report and review of the literature
Juvenile hemochromatosis (JH) is a severe form of hemochromatosis, which involves rapid iron overload and leads to organ damage, typically before the age of 30. We report a single case of a 25-year-old man suffering from juvenile hemochromatosis, with aggressive clinical manifestations, typically ch...
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Veröffentlicht in: | Osteoporosis international 2006, Vol.17 (1), p.150-155 |
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description | Juvenile hemochromatosis (JH) is a severe form of hemochromatosis, which involves rapid iron overload and leads to organ damage, typically before the age of 30. We report a single case of a 25-year-old man suffering from juvenile hemochromatosis, with aggressive clinical manifestations, typically characterized by transaminasemia and progressive erectile dysfunction, due to hypogonadotropic hypogonadism. The clinical case appears interesting, as the patient also had secondary osteoporosis accompanied by increased bone resorption, which prevalently affected trabecular bone. Approximately 6 months after normalization of serum ferritin levels was achieved by frequent phlebotomies, he became eugonadal and bone mineral density of the lumbar spine increased. Our observations suggest that osteoporosis might occur in the state of JH even at a young age, mainly due to the deprivation of sex steroids and the direct tissue toxicity of iron. |
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Approximately 6 months after normalization of serum ferritin levels was achieved by frequent phlebotomies, he became eugonadal and bone mineral density of the lumbar spine increased. Our observations suggest that osteoporosis might occur in the state of JH even at a young age, mainly due to the deprivation of sex steroids and the direct tissue toxicity of iron.</description><identifier>ISSN: 0937-941X</identifier><identifier>EISSN: 1433-2965</identifier><identifier>DOI: 10.1007/s00198-005-1920-6</identifier><identifier>PMID: 15997423</identifier><language>eng</language><publisher>London: Springer</publisher><subject>Adult ; Biological and medical sciences ; Bone and Bones - metabolism ; Bone Density ; Diseases of the osteoarticular system ; Fundamental and applied biological sciences. Psychology ; GPI-Linked Proteins ; Hemochromatosis - complications ; Hemochromatosis - genetics ; Hemochromatosis - physiopathology ; Humans ; Hypogonadism - complications ; Investigative techniques, diagnostic techniques (general aspects) ; Literature reviews ; Male ; Medical sciences ; Membrane Proteins - genetics ; Mutation ; Osteoarticular system. Muscles ; Osteoporosis - etiology ; Osteoporosis - physiopathology ; Osteoporosis. Osteomalacia. Paget disease ; Radiodiagnosis. Nmr imagery. 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A case report and review of the literature</title><title>Osteoporosis international</title><addtitle>Osteoporos Int</addtitle><description>Juvenile hemochromatosis (JH) is a severe form of hemochromatosis, which involves rapid iron overload and leads to organ damage, typically before the age of 30. We report a single case of a 25-year-old man suffering from juvenile hemochromatosis, with aggressive clinical manifestations, typically characterized by transaminasemia and progressive erectile dysfunction, due to hypogonadotropic hypogonadism. The clinical case appears interesting, as the patient also had secondary osteoporosis accompanied by increased bone resorption, which prevalently affected trabecular bone. Approximately 6 months after normalization of serum ferritin levels was achieved by frequent phlebotomies, he became eugonadal and bone mineral density of the lumbar spine increased. Our observations suggest that osteoporosis might occur in the state of JH even at a young age, mainly due to the deprivation of sex steroids and the direct tissue toxicity of iron.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Bone and Bones - metabolism</subject><subject>Bone Density</subject><subject>Diseases of the osteoarticular system</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>GPI-Linked Proteins</subject><subject>Hemochromatosis - complications</subject><subject>Hemochromatosis - genetics</subject><subject>Hemochromatosis - physiopathology</subject><subject>Humans</subject><subject>Hypogonadism - complications</subject><subject>Investigative techniques, diagnostic techniques (general aspects)</subject><subject>Literature reviews</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Membrane Proteins - genetics</subject><subject>Mutation</subject><subject>Osteoarticular system. Muscles</subject><subject>Osteoporosis - etiology</subject><subject>Osteoporosis - physiopathology</subject><subject>Osteoporosis. Osteomalacia. Paget disease</subject><subject>Radiodiagnosis. Nmr imagery. 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Psychology</topic><topic>GPI-Linked Proteins</topic><topic>Hemochromatosis - complications</topic><topic>Hemochromatosis - genetics</topic><topic>Hemochromatosis - physiopathology</topic><topic>Humans</topic><topic>Hypogonadism - complications</topic><topic>Investigative techniques, diagnostic techniques (general aspects)</topic><topic>Literature reviews</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Membrane Proteins - genetics</topic><topic>Mutation</topic><topic>Osteoarticular system. Muscles</topic><topic>Osteoporosis - etiology</topic><topic>Osteoporosis - physiopathology</topic><topic>Osteoporosis. Osteomalacia. Paget disease</topic><topic>Radiodiagnosis. Nmr imagery. 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subjects | Adult Biological and medical sciences Bone and Bones - metabolism Bone Density Diseases of the osteoarticular system Fundamental and applied biological sciences. Psychology GPI-Linked Proteins Hemochromatosis - complications Hemochromatosis - genetics Hemochromatosis - physiopathology Humans Hypogonadism - complications Investigative techniques, diagnostic techniques (general aspects) Literature reviews Male Medical sciences Membrane Proteins - genetics Mutation Osteoarticular system. Muscles Osteoporosis - etiology Osteoporosis - physiopathology Osteoporosis. Osteomalacia. Paget disease Radiodiagnosis. Nmr imagery. Nmr spectrometry Skeleton and joints Vertebrates: osteoarticular system, musculoskeletal system |
title | Osteoporosis in HFE2 juvenile hemochromatosis. A case report and review of the literature |
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