Table 5. [Recommended Surveillance for Individuals with Juvenile Hemochromatosis]. - GeneReviews®

Manifestation/ System	Evaluation	Frequency
Iron overload	Serum ferritin concentration; transferrin saturation	In those at risk annually starting in early childhood; every 6-12 mos in maintenance phase
Serum ferritin	Every 4-8 phlebotomies during induction phase; every 1-2 phlebotomies as ferritin levels approach the target of 50 ng/mL
Liver	Liver function tests	Every 6-12 mos according to severity of liver dysfunction
Abdomen ultrasound + serum alpha-fetoprotein	Every 6 mos in individuals w/severe fibrosis/cirrhosis to monitor for hepatocellular cancer
Abdomen ultrasound	Every 12-24 mos in non-cirrhotics in maintenance therapy
Fibroelastography	Every 12-24 mos to monitor for fibrosis evolution
Heart	Cardiac ultrasound & MR for evaluating morphology & function	According to severity of cardiac dysfunction; MR every 6-12 mos if myocardial iron overload is present
Holter EKG for evaluating arrhythmias	According to symptoms & history of arrhythmias
Pituitary-gonadal axis	Testosterone; estradiol	Every 12 mos or as needed
Endocrine pancreas	Fasting & postprandial serum glucose; glycosylated hemoglobin (Hgb A1c)	Every 6-12 mos as needed
Bone & joints	Vitamin D, PTH, serum & urinary calcium & phosphorus, C-terminal telopeptide	Every 12 mos as needed
DXA	Every 24 mos or more often according to presence of osteoporosis

Manifestation/
System

Evaluation

Frequency

Iron overload

Serum ferritin concentration; transferrin saturation

In those at risk annually starting in early childhood; every 6-12 mos in maintenance phase

Serum ferritin

Every 4-8 phlebotomies during induction phase; every 1-2 phlebotomies as ferritin levels approach the target of 50 ng/mL

Liver

Liver function tests

Every 6-12 mos according to severity of liver dysfunction

Abdomen ultrasound + serum alpha-fetoprotein

Every 6 mos in individuals w/severe fibrosis/cirrhosis to monitor for hepatocellular cancer

Abdomen ultrasound

Every 12-24 mos in non-cirrhotics in maintenance therapy

Fibroelastography

Every 12-24 mos to monitor for fibrosis evolution

Heart

Cardiac ultrasound & MR for evaluating morphology & function

According to severity of cardiac dysfunction; MR every 6-12 mos if myocardial iron overload is present

Holter EKG for evaluating arrhythmias

According to symptoms & history of arrhythmias

Pituitary-gonadal axis

Testosterone; estradiol

Every 12 mos or as needed

Endocrine
pancreas

Fasting & postprandial serum glucose; glycosylated hemoglobin (Hgb A1c)

Every 6-12 mos as needed

Bone & joints

Vitamin D, PTH, serum & urinary calcium & phosphorus, C-terminal telopeptide

Every 12 mos as needed

DXA

Every 24 mos or more often according to presence of osteoporosis

From: Juvenile Hemochromatosis

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

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