Screening for Hemochromatosis: Patients with Liver Disease, Families, and Populations

[Guest guest]

Screening for Hemochromatosis: Patients with Liver Disease, Families, and

Populations

Sumedha P Galhenage MBBS, Charlie H Viiala MBBS FRACP and K Olynyk MD

FRACP

School of Medicine and Pharmacology, Fremantle Hospital Campus PO Box 480,

University of Western Australia, Fremantle, 6959, Western Australia

Current Gastroenterology Reports 2004, 6:44-51 (published 1 February 2004)

Abstract

Hereditary hemochromatosis is a common autosomal- recessive disorder of iron

overload usually occurring in individuals who are homozygous for a C282Y

mutation in the hemochromatosis (HFE) gene. Current screening methods can

detect affected individuals early in disease pathogenesis, enabling early

institution of effective treatment that can restore normal life expectancy.

Phenotypic screening of adults using transferrin saturation and serum

ferritin levels identifies the majority of individuals who develop iron

overload. HFE genotyping, when combined with serum biochemical measurements,

has reduced reliance on liver biopsy as a diagnostic tool and is the

preferred initial screening modality for families with an affected

individual. Genetic testing has altered previously held views regarding the

high level of penetrance of the disease. Although the majority of C282Y

homozygotes develop increased body iron stores, end-organ damage occurs much

less frequently than previously thought. Screening is recommended in

high-risk groups and in those with a high index of clinical suspicion.

Opportunistic screening during routine health assessments may also be

recommended. However, large-scale screening of the average-risk population

is not recommended on the basis of current evidence.

[Guest guest]

Screening for Hemochromatosis: Patients with Liver Disease, Families, and

Populations

Sumedha P Galhenage MBBS, Charlie H Viiala MBBS FRACP and K Olynyk MD

FRACP

School of Medicine and Pharmacology, Fremantle Hospital Campus PO Box 480,

University of Western Australia, Fremantle, 6959, Western Australia

Current Gastroenterology Reports 2004, 6:44-51 (published 1 February 2004)

Abstract

Hereditary hemochromatosis is a common autosomal- recessive disorder of iron

overload usually occurring in individuals who are homozygous for a C282Y

mutation in the hemochromatosis (HFE) gene. Current screening methods can

detect affected individuals early in disease pathogenesis, enabling early

institution of effective treatment that can restore normal life expectancy.

Phenotypic screening of adults using transferrin saturation and serum

ferritin levels identifies the majority of individuals who develop iron

overload. HFE genotyping, when combined with serum biochemical measurements,

has reduced reliance on liver biopsy as a diagnostic tool and is the

preferred initial screening modality for families with an affected

individual. Genetic testing has altered previously held views regarding the

high level of penetrance of the disease. Although the majority of C282Y

homozygotes develop increased body iron stores, end-organ damage occurs much

less frequently than previously thought. Screening is recommended in

high-risk groups and in those with a high index of clinical suspicion.

Opportunistic screening during routine health assessments may also be

recommended. However, large-scale screening of the average-risk population

is not recommended on the basis of current evidence.

[Guest guest]

Screening for Hemochromatosis: Patients with Liver Disease, Families, and

Populations

Sumedha P Galhenage MBBS, Charlie H Viiala MBBS FRACP and K Olynyk MD

FRACP

School of Medicine and Pharmacology, Fremantle Hospital Campus PO Box 480,

University of Western Australia, Fremantle, 6959, Western Australia

Current Gastroenterology Reports 2004, 6:44-51 (published 1 February 2004)

Abstract

Hereditary hemochromatosis is a common autosomal- recessive disorder of iron

overload usually occurring in individuals who are homozygous for a C282Y

mutation in the hemochromatosis (HFE) gene. Current screening methods can

detect affected individuals early in disease pathogenesis, enabling early

institution of effective treatment that can restore normal life expectancy.

Phenotypic screening of adults using transferrin saturation and serum

ferritin levels identifies the majority of individuals who develop iron

overload. HFE genotyping, when combined with serum biochemical measurements,

has reduced reliance on liver biopsy as a diagnostic tool and is the

preferred initial screening modality for families with an affected

individual. Genetic testing has altered previously held views regarding the

high level of penetrance of the disease. Although the majority of C282Y

homozygotes develop increased body iron stores, end-organ damage occurs much

less frequently than previously thought. Screening is recommended in

high-risk groups and in those with a high index of clinical suspicion.

Opportunistic screening during routine health assessments may also be

recommended. However, large-scale screening of the average-risk population

is not recommended on the basis of current evidence.

[Guest guest]

Screening for Hemochromatosis: Patients with Liver Disease, Families, and

Populations

Sumedha P Galhenage MBBS, Charlie H Viiala MBBS FRACP and K Olynyk MD

FRACP

School of Medicine and Pharmacology, Fremantle Hospital Campus PO Box 480,

University of Western Australia, Fremantle, 6959, Western Australia

Current Gastroenterology Reports 2004, 6:44-51 (published 1 February 2004)

Abstract

Hereditary hemochromatosis is a common autosomal- recessive disorder of iron

overload usually occurring in individuals who are homozygous for a C282Y

mutation in the hemochromatosis (HFE) gene. Current screening methods can

detect affected individuals early in disease pathogenesis, enabling early

institution of effective treatment that can restore normal life expectancy.

Phenotypic screening of adults using transferrin saturation and serum

ferritin levels identifies the majority of individuals who develop iron

overload. HFE genotyping, when combined with serum biochemical measurements,

has reduced reliance on liver biopsy as a diagnostic tool and is the

preferred initial screening modality for families with an affected

individual. Genetic testing has altered previously held views regarding the

high level of penetrance of the disease. Although the majority of C282Y

homozygotes develop increased body iron stores, end-organ damage occurs much

less frequently than previously thought. Screening is recommended in

high-risk groups and in those with a high index of clinical suspicion.

Opportunistic screening during routine health assessments may also be

recommended. However, large-scale screening of the average-risk population

is not recommended on the basis of current evidence.