Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Juvenile Hemochromatosis

SystemEvaluationComment
Liver
  • Biochemical tests: serum transaminases, gammaglutamyl transferase, albumin, INR, bilirubin
  • Instrumental tests: abdominal ultrasound, fibroelastography
  • MR-based quantification of liver iron overload
  • CT & MR as needed (e.g., if focal lesions on ultrasound)
  • Liver biopsy for prognostic evaluation (severe fibrosis/cirrhosis) in those w/severe iron overload 1
To determine the extent of liver damage & establish prognosis
Cardiac
  • EKG & Holter EKG
  • Transthoracic echocardiogram
  • MR-based quantification of myocardial iron overload
  • Myocardial iron accumulation often precedes cardiac dysfunction.
  • Findings of left ventricular diastolic dysfunction (↓ left ventricular compliance) often precede ventricular dilatation & compromised ejection fraction in those w/out manifestations of cardiac failure or arrhythmias.
Skeletal DXA of femur & lumbar spineTo evaluate bone mineral density
Radiologic evaluation of painful jointsTo evaluate joints for arthropathy
Endocrine
  • Overnight fasting serum glucose & insulin measurement
  • Oral glucose tolerance test w/baseline & 120-min serum glucose & insulin measurement
To evaluate for diabetes mellitus, glucose intolerance, & insulin resistance
  • Measurement of serum FSH & LH, & testosterone or estradiol
  • GnRH stimulation test as needed
  • Pituitary MRI as needed
To evaluate for hypogonadotropic hypogonadism

DXA = dual-energy x-ray absorptiometry; FSH = follicle-stimulating hormone; GnRH = gonadotropin-releasing hormone; INR = international normalized ratio; LH = luteinizing hormone

1.

Current recommendations for HFE hemochromatosis are that HFE p.Cys282Tyr homozygotes with serum ferritin concentration lower than 1000 ng/mL and/or normal liver function enzymes need not be biopsied. Specific recommendations for individuals with juvenile hemochromatosis are not available; adaptation of the HFE hemochromatosis recommendation is a reasonable approach.

From: Juvenile Hemochromatosis

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