Table 4. [HFE-Related Hemochromatosis: Treatment of Manifestations]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Arthropathy	Nonsteroidal anti-inflammatory drugs Physiotherapy Joint replacement	Joint replacement is often indicated, esp in persons w/advanced hip or knee arthropathy.
Diabetes mellitus	Standard treatment	Diabetes, typically type 2, is unrelated to iron overload; iron removal may improve diabetes control.
Liver disease	Phlebotomy or iron chelation as indicated (See Targeted Therapies.)	Although cirrhosis is infrequently reversible by phlebotomy, persons w/cirrhosis may benefit from iron removal to ↓ HCC risk.
Vaccination against hepatitis A & B for persons w/HFE HC & liver injury due to iron overload Treatment of hepatitis B or C w/standard antiviral agents may ↓ liver injury.	May reduce inflammation caused by iron & hepatitis, although long-term benefits, if any, are unknown
Varices: endoscopic surveillance; prophylaxis w/nonselective beta-blockers Ascites: salt restriction & diuretics, & paracentesis & portosystemic shunts if needed Spontaneous bacterial peritonitis: antibiotic therapy Hepatic encephalopathy: nutritional modifications (low-protein diet) & lactulose & rifaximin as needed	Liver disease mgmt aims to prevent complications of cirrhosis & liver decompensation
Orthotopic liver transplantation is the treatment for end-stage liver disease due to decompensated cirrhosis.	In 29 individuals w/HFE HC due to p.Cys282Tyr homozygosity, iron overload did not recur after liver transplant, although post-transplant survival was significantly lower in persons w/HFE HC than in the overall transplant cohort [Dobrindt et al 2020].
Hypogonadotropic hypogonadism	Hormone replacement therapy as needed Gonadotropin treatment for infertility in females as needed	Usually not reversible by iron removal
Cardiomyopathy	Diuretics, ACE inhibitors, cardiac glycosides, antiarrhythmic agents Phlebotomy or erythrocytapheresis; consider iron chelation therapy.	Lifelong treatment w/supportive agents may be indicated. Iron-chelating agents (deferoxamine, deferiprone, & deferasirox) are not approved for treatment of iron overload in HFE HC.

Manifestation/Concern

Treatment

Considerations/Other

Arthropathy

Nonsteroidal anti-inflammatory drugs
Physiotherapy
Joint replacement

Joint replacement is often indicated, esp in persons w/advanced hip or knee arthropathy.

Diabetes mellitus

Standard treatment

Diabetes, typically type 2, is unrelated to iron overload; iron removal may improve diabetes control.

Liver disease

Phlebotomy or iron chelation as indicated (See Targeted Therapies.)

Although cirrhosis is infrequently reversible by phlebotomy, persons w/cirrhosis may benefit from iron removal to ↓ HCC risk.

Vaccination against hepatitis A & B for persons w/HFE HC & liver injury due to iron overload
Treatment of hepatitis B or C w/standard antiviral agents may ↓ liver injury.

May reduce inflammation caused by iron & hepatitis, although long-term benefits, if any, are unknown

Varices: endoscopic surveillance; prophylaxis w/nonselective beta-blockers
Ascites: salt restriction & diuretics, & paracentesis & portosystemic shunts if needed
Spontaneous bacterial peritonitis: antibiotic therapy
Hepatic encephalopathy: nutritional modifications (low-protein diet) & lactulose & rifaximin as needed

Liver disease mgmt aims to prevent complications of cirrhosis & liver decompensation

Orthotopic liver transplantation is the treatment for end-stage liver disease due to decompensated cirrhosis.

In 29 individuals w/HFE HC due to p.Cys282Tyr homozygosity, iron overload did not recur after liver transplant, although post-transplant survival was significantly lower in persons w/HFE HC than in the overall transplant cohort [Dobrindt et al 2020].

Hypogonadotropic hypogonadism

Hormone replacement therapy as needed
Gonadotropin treatment for infertility in females as needed

Usually not reversible by iron removal

Cardiomyopathy

Diuretics, ACE inhibitors, cardiac glycosides, antiarrhythmic agents
Phlebotomy or erythrocytapheresis; consider iron chelation therapy.

Lifelong treatment w/supportive agents may be indicated.
Iron-chelating agents (deferoxamine, deferiprone, & deferasirox) are not approved for treatment of iron overload in HFE HC.

From: HFE-Related Hemochromatosis

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