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Hereditary Hemochromatosis - Management

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Hereditary Hemochromatosis
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Draw serum ferritin and transaminases. Avoid times of stress or inflammation as ferritin is an acute phase reactant.

 

  • Assess for hepatomegaly.
  • If serum ferritin > 1000 ng/ml, OR transaminases are elevated without other explanation OR liver is enlarged, get liver biopsy to determine presence of cirrhosis; absence of all three findings makes cirrhosis very unlikely. (LOE=B) The presence of cirrhosis is prognostically important (see Prognosis below).

Percentage of C282Y homozygotes with cirrhosis given the following findings:

Sign

Present

Not Present

Ferritin > 1000 mcg/L

53%

2%

Hepatomegaly

73%

10%

AST elevation

66%

15%

Combinations of Signs

Both or all present

Neither or None Present

Ferritin >1000 mcg/L AND hepatomegaly

84%

1%

Ferritin > 1000 mcg/L AND AST elevation

69%

1%

Hepatomegaly AND AST elevation

86%

11%

All signs above

86%

0%

 

Lifestyle Issue

  • Limit dietary iron and vitamin C (LOE=C) (which increases iron absorption).
  • No more than minimal alcohol intake. Alcohol abuse is strongly associated with liver disease in hemochromatosis patients (RR=6.75).
  • No known exercise benefit or risk

Longitudinal Care

Approach depends on serum ferritin: if serum ferritin > 300 ng/ml, treat

Follow-up testing/screening/monitoring

See below

Care team members

  • Gastroenterology may be consulted if patient has cirrhosis
  • If phlebotomy is needed, use a blood donor center when possible

Physical/Occupational/Developmental/Speech Therapies

Not indicated

Psychology/Counseling

Not indicated

Medications

Avoid vitamins or other products containing iron.

Surgery and/or Procedures

  • Begin phlebotomy (up to 1 unit per week); continue until ferritin < 50 ng/ml; this blood is acceptable for donation! (LOE=C). Recheck ferritin levels every 4 to 8 units removed; more frequent checks as you approach target ferritin. (LOE=C).
  • If anemia develops, decrease the frequency of phlebotomy.
  • Once ferritin is <50 ng/ml, begin maintenance phase: phlebotomy typically every 3-4 months. Goal remains keeping ferritin <50. 10 (LOE=C).

Other Interventions

None

Treatments and Interventions to Avoid

None

Reproductive Implications

  • None known (clinical symptoms usually begin after reproductive period)
  • No effect on a pregnancy, and pregnancy has no effect on disease.

Prognosis

  • Most homozygotes will NOT be clinically affected and will not require treatment. (LOE=A)
  • Males: symptoms onset usually between age 40 & 60. (LOE=A)
  • Females: symptoms onset usually several years after menopause (menstrual bleeding is protective). (LOE=A)
  • If treated before hepatic cirrhosis begins, life expectancy is normal. (LOE=B)
  • Phlebotomy after onset of cirrhosis improves life expectancy, but does not return it to normal, and does not reduce risk of hepatocellular carcinoma which is 5-18%. (LOE=B)
  • Most deaths are due to cirrhosis or other hepatic complications. (LOE=B)
  • Most manifestations are reversible with phlebotomy, but arthralgias and endocrine deficiencies often do not improve with phlebotomy. (LOE=C)

Presymptomatic and Asymptomatic Patients

Treatment is determined by a positive diagnosis (elevated transferrin saturation X 2 and two abnormal alleles) PLUS a ferritin >300. If there is hemochromatosis in the family and tests are abnormal but not diagnostic, or diagnostic but not yet treatable, follow to determine trends in your specific patient.

Consensus Statements and Guidelines

  • Screening: USPSTF, American College of Physicians
  • All aspects: AASLD

Referral Guidelines

  • Depending on severity, referral for treatment of complications (especially cirrhosis or hepatocellular carcinoma).
  • If genetic counseling needed