Table 3. [HFE-Related Hemochromatosis: Recommended Evaluations Following Initial Diagnosis]. - GeneReviews®

System/Concern	Evaluation	Comment
Biochemical iron parameters	Serum iron, transferrin saturation, & serum ferritin
Joints	Radiographs of affected joint(s)	In those w/arthralgias or joint deformity, esp hands, hips, knees
Diabetes	Fasting serum glucose & Hb A1c level	At diagnosis of iron overload to assess for diabetes mellitus
Liver	Serum AST, ALT, ALP, bilirubin, & albumin
Liver biopsy for eval of abnormal liver tests & establishing prognosis	In those w/clinical evidence of cirrhosis & those w/serum ferritin >1,000 µg/L, esp those w/non-HC liver disease (e.g., excessive alcohol consumption, viral hepatitis) (See Figure 1.)
Quantitative MRI (R₂) or T₂*-weighted MRI	In those w/serum ferritin >1,000 µg/L if liver biopsy is not possible & those w/hyperferritinemia of uncertain cause; MRI can also measure iron in spleen, pancreas, heart, & brain.
Liver elastography to assess for hepatic fibrosis	In those w/serum ferritin >1,000 µg/L if obtaining liver biopsy is not possible & in those w/serum ferritin ≤1000 µg/L who consume excessive alcohol or have chronic viral hepatitis
Hypogonadotropic hypogonadism	Serum testosterone (males), serum estradiol (females)	At diagnosis of iron overload if evidence of hypogonadism
Serum FSH & LH to assess pituitary function	At diagnosis of iron overload, if serum testosterone (males) or serum estradiol (females) is low; if LH &/or FSH is low, a GnRH stimulation test & MRI of pituitary gland may be indicated.
Heart	Cardiac eval, as appropriate	In those w/severe iron overload or known heart disease
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of HFE HC to facilitate medical and personal decision making

System/Concern

Evaluation

Comment

Biochemical iron parameters

Serum iron, transferrin saturation, & serum ferritin

Joints

Radiographs of affected joint(s)

In those w/arthralgias or joint deformity, esp hands, hips, knees

Diabetes

Fasting serum glucose & Hb A1c level

At diagnosis of iron overload to assess for diabetes mellitus

Liver

Serum AST, ALT, ALP, bilirubin, & albumin

Liver biopsy for eval of abnormal liver tests & establishing prognosis

In those w/clinical evidence of cirrhosis & those w/serum ferritin >1,000 µg/L, esp those w/non-HC liver disease (e.g., excessive alcohol consumption, viral hepatitis) (See Figure 1.)

Quantitative MRI (R₂) or T₂*-weighted MRI

In those w/serum ferritin >1,000 µg/L if liver biopsy is not possible & those w/hyperferritinemia of uncertain cause; MRI can also measure iron in spleen, pancreas, heart, & brain.

Liver elastography to assess for hepatic fibrosis

In those w/serum ferritin >1,000 µg/L if obtaining liver biopsy is not possible & in those w/serum ferritin ≤1000 µg/L who consume excessive alcohol or have chronic viral hepatitis

Hypogonadotropic hypogonadism

Serum testosterone (males), serum estradiol (females)

At diagnosis of iron overload if evidence of hypogonadism

Serum FSH & LH to assess pituitary function

At diagnosis of iron overload, if serum testosterone (males) or serum estradiol (females) is low; if LH &/or FSH is low, a GnRH stimulation test & MRI of pituitary gland may be indicated.

Heart

Cardiac eval, as appropriate

In those w/severe iron overload or known heart disease

Genetic counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of HFE HC to facilitate medical and personal decision making

From: HFE-Related Hemochromatosis

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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