Hemochromatosis
Резюме
Определение
Анамнез и осмотр
Ключевые диагностические факторы
- fatigue
- weakness
- lethargy
- arthralgias
- hepatomegaly
- diabetes mellitus
- impotence in males
- amenorrhea
- loss of libido
- skin pigmentation
Другие диагностические факторы
- congestive heart failure
- arrhythmias
- porphyria cutanea tarda
Факторы риска
- middle age
- male sex
- white ancestry
- family history
- supplemental iron
Диагностические исследования
Исследования, которые показаны в первую очередь
- serum transferrin saturation
- serum ferritin
Исследования, проведение которых нужно рассмотреть
- HFE mutation analysis
- serum-based fibrosis tests/transient elastography
- MRI liver
- liver biopsy
- LFTs
- fasting blood sugar
- echocardiogram
- ECG
- MRI heart and other organs
- testosterone, FSH, and LH assays
- bone densitometry
Алгоритм лечения
stage 0 disease (C282Y homozygous)
stage 1 disease (C282Y homozygous)
stage 2, 3, or 4 disease (C282Y homozygous)
not C282Y homozygous
Составители
Авторы
Kyle E. Brown, MD, Msc, FAASLD
Professor of Internal Medicine - Gastroenterology and Hepatology
Professor of Radiation Oncology
University of Iowa Carver College of Medicine
Iowa City
IA
Раскрытие информации
KEB declares that she has no competing interests.
Выражение благодарностей
Dr Kyle E. Brown would like to gratefully acknowledge Dr Rebecca Fischer Connor, the previous contributor to this topic. RFC declares that she has no competing interests.
Рецензенты
Pierre Brissot, MD
Professor of Medicine and Chief of Liver Disease Department
University Hospital Pontchaillou
Rennes
France
Раскрытие информации
PB declares that he has no competing interests.
William E. Cayley, MD MDiv
Associate Professor
Department of Family Medicine
University of Wisconsin
Madison
WI
Раскрытие информации
WEC declares that he has no competing interests.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
Список литературы
Основные статьи
Haute Autorité de Santé (France). Management of patients with HFE-related haemochromatosis (type 1 haemochromatosis). Jul 2005 [internet publication].Полный текст
Kowdley KV, Brown KE, Ahn J, et al. ACG clinical guideline: hereditary hemochromatosis. Am J Gastroenterol. 2019 Aug;114(8):1202-18.Полный текст Аннотация
European Association for the Study of the Liver. EASL clinical practice guidelines on haemochromatosis. J Hepatol. 2022 Aug;77(2):479-502.Полный текст Аннотация
Bacon BR, Adams PC, Kowdley KV, et al. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011 Jul;54(1):328-43.Полный текст Аннотация
Fitzsimons EJ, Cullis JO, Thomas DW, et al. Diagnosis and therapy of genetic haemochromatosis (review and 2017 update). Br J Haematol. 2018 May;181(3):293-303.Полный текст Аннотация
Статьи, указанные как источники
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Отличия
- Iron overload from chronic transfusion
- Hepatitis B
- Hepatitis C
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