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
Hauptverfasser: ANGELOPOULOS, Nicholas G, GOULA, Anastasia K, PAPANIKOLAOU, George, TOLIS, George
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container_title Osteoporosis international
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creator ANGELOPOULOS, Nicholas G
GOULA, Anastasia K
PAPANIKOLAOU, George
TOLIS, George
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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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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