Table 5. [TFR2-Related Hemochromatosis: Recommended Surveillance]. - GeneReviews®

System/Concern	Evaluation	Frequency
Biochemical iron parameters	Serum iron, transferrin, transferrin saturation, & ferritin	Every 6-12 mos
Liver disease	Liver function tests	Every 6-12 mos or more frequently if signs/symptoms of liver decompensation
Serum AFP Liver ultrasound to assess for HCC	Every 6 mos in those w/cirrhosis & eligible for cancer treatment or liver transplantation, regardless of iron depletion
Hypogonadotropic hypogonadism	No surveillance recommendations for those w/o hypogonadism
Serum gonadotropins (FSH & LH), serum testosterone, & serum estradiol to assess possible partial restoration of pituitary function	In those w/hypogonadism, on an individual basis according to severity of hypogonadism at diagnosis
Diabetes mellitus	Fasting serum glucose	Every 12 mos in those w/o diabetes
Serum glucose, Hgb A1c, serum lipid profile, blood pressure, assessment of kidney function, assessment for peripheral neuropathy, & eye exam as for standard care, to prevent complications	In those w/diabetes, every 6-12 mos from diagnosis or as needed based on clinical manifestations
Cardiac failure	No surveillance recommendations for those w/o cardiac disease
EKG & echocardiography	In those w/cardiac disease, annually or as needed based on clinical manifestations
Arthropathy	X-ray exam	As needed based on symptoms

System/Concern

Evaluation

Frequency

Biochemical iron parameters

Serum iron, transferrin, transferrin saturation, & ferritin

Every 6-12 mos

Liver disease

Liver function tests

Every 6-12 mos or more frequently if signs/symptoms of liver decompensation

Serum AFP
Liver ultrasound to assess for HCC

Every 6 mos in those w/cirrhosis & eligible for cancer treatment or liver transplantation, regardless of iron depletion

Hypogonadotropic hypogonadism

No surveillance recommendations for those w/o hypogonadism

Serum gonadotropins (FSH & LH), serum testosterone, & serum estradiol to assess possible partial restoration of pituitary function

In those w/hypogonadism, on an individual basis according to severity of hypogonadism at diagnosis

Diabetes mellitus

Fasting serum glucose

Every 12 mos in those w/o diabetes

Serum glucose, Hgb A1c, serum lipid profile, blood pressure, assessment of kidney function, assessment for peripheral neuropathy, & eye exam as for standard care, to prevent complications

In those w/diabetes, every 6-12 mos from diagnosis or as needed based on clinical manifestations

Cardiac failure

No surveillance recommendations for those w/o cardiac disease

EKG & echocardiography

In those w/cardiac disease, annually or as needed based on clinical manifestations

Arthropathy

X-ray exam

As needed based on symptoms

From: TFR2-Related Hemochromatosis

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

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