Genetisk HFE-hæmokromatose

Nils Thorm Milman, Frank Vinholt Schiødt, Anders E. Junker, Karin Magnussen, Torben Nathan, Thomas Damgaard Sandahl

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

HFE-haemochromatosis is the most frequent genetic disposition for iron overload in ethnic Danes: 20,000 persons are homozygous for the C282Y mutation. The disorder has a long preclinical phase with increasing body iron overload, and 30% of males will develop clinically overt disease, presenting with symptoms of fatigue, arthralgias, reduced libido, erectile dysfunction, cardiac disease, diabetes and liver disease, later progressing into cirrhosis, cardiomyopathy, pancreatic fibrosis and osteoporosis. Treatment consists of phlebotomies, which in the preclinical and early clinical phases ensure normal survival.
OriginalsprogDansk
ArtikelnummerV09180619
TidsskriftUgeskrift for Laeger
Vol/bind181
Udgave nummer17
ISSN0041-5782
StatusUdgivet - 2019

Fingeraftryk

Iron Overload
Hemochromatosis
Libido
Liver Diseases
Mutation

Citer dette

Milman, N. T., Schiødt, F. V., Junker, A. E., Magnussen, K., Nathan, T., & Sandahl, T. D. (2019). Genetisk HFE-hæmokromatose. Ugeskrift for Laeger, 181(17), [V09180619].
Milman, Nils Thorm ; Schiødt, Frank Vinholt ; Junker, Anders E. ; Magnussen, Karin ; Nathan, Torben ; Sandahl, Thomas Damgaard. / Genetisk HFE-hæmokromatose. I: Ugeskrift for Laeger. 2019 ; Bind 181, Nr. 17.
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title = "Genetisk HFE-h{\ae}mokromatose",
abstract = "HFE-haemochromatosis is the most frequent genetic disposition for iron overload in ethnic Danes: 20,000 persons are homozygous for the C282Y mutation. The disorder has a long preclinical phase with increasing body iron overload, and 30{\%} of males will develop clinically overt disease, presenting with symptoms of fatigue, arthralgias, reduced libido, erectile dysfunction, cardiac disease, diabetes and liver disease, later progressing into cirrhosis, cardiomyopathy, pancreatic fibrosis and osteoporosis. Treatment consists of phlebotomies, which in the preclinical and early clinical phases ensure normal survival.",
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language = "Dansk",
volume = "181",
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Milman, NT, Schiødt, FV, Junker, AE, Magnussen, K, Nathan, T & Sandahl, TD 2019, 'Genetisk HFE-hæmokromatose', Ugeskrift for Laeger, bind 181, nr. 17, V09180619.

Genetisk HFE-hæmokromatose. / Milman, Nils Thorm; Schiødt, Frank Vinholt; Junker, Anders E.; Magnussen, Karin; Nathan, Torben; Sandahl, Thomas Damgaard.

I: Ugeskrift for Laeger, Bind 181, Nr. 17, V09180619, 2019.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Genetisk HFE-hæmokromatose

AU - Milman, Nils Thorm

AU - Schiødt, Frank Vinholt

AU - Junker, Anders E.

AU - Magnussen, Karin

AU - Nathan, Torben

AU - Sandahl, Thomas Damgaard

PY - 2019

Y1 - 2019

N2 - HFE-haemochromatosis is the most frequent genetic disposition for iron overload in ethnic Danes: 20,000 persons are homozygous for the C282Y mutation. The disorder has a long preclinical phase with increasing body iron overload, and 30% of males will develop clinically overt disease, presenting with symptoms of fatigue, arthralgias, reduced libido, erectile dysfunction, cardiac disease, diabetes and liver disease, later progressing into cirrhosis, cardiomyopathy, pancreatic fibrosis and osteoporosis. Treatment consists of phlebotomies, which in the preclinical and early clinical phases ensure normal survival.

AB - HFE-haemochromatosis is the most frequent genetic disposition for iron overload in ethnic Danes: 20,000 persons are homozygous for the C282Y mutation. The disorder has a long preclinical phase with increasing body iron overload, and 30% of males will develop clinically overt disease, presenting with symptoms of fatigue, arthralgias, reduced libido, erectile dysfunction, cardiac disease, diabetes and liver disease, later progressing into cirrhosis, cardiomyopathy, pancreatic fibrosis and osteoporosis. Treatment consists of phlebotomies, which in the preclinical and early clinical phases ensure normal survival.

M3 - Tidsskriftartikel

VL - 181

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

IS - 17

M1 - V09180619

ER -

Milman NT, Schiødt FV, Junker AE, Magnussen K, Nathan T, Sandahl TD. Genetisk HFE-hæmokromatose. Ugeskrift for Laeger. 2019;181(17). V09180619.