Table 4. [TFR2-Related Hemochromatosis: Treatment of Manifestations]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Liver disease	Phlebotomy & iron chelation as needed (See Targeted Therapy.)	Although cirrhosis is not reversible by phlebotomy, persons w/cirrhosis benefit from iron removal to ↓ risk of HCC.
Vaccination against hepatitis A & B
Varices: endoscopic surveillance; prophylaxis w/nonselective beta-blockers Ascites: salt restriction & diuretics, & paracentesis & 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. There are no reports of liver transplantation for end-stage liver disease in persons w/TFR2-HC.
Hypogonadotropic hypogonadism	Hormone replacement therapy Gonadotropin treatment for infertility	Usually not reversable by iron removal & therefore requires lifelong treatment
Diabetes mellitus	Insulin treatment	Iron removal may improve control of diabetes mellitus but cannot reestablish normal glucose metabolism.
Cardiac failure	Diuretics, ACE inhibitors, cardiac glycosides Iron chelation by intravenous or subcutaneous desferrioxamine, or oral deferiprone & deferasirox	Lifelong treatment is required in those w/cardiac disease. To date, oral deferiprone & deferasirox are not approved for treatment of TFR2-HC.
Arthropathy	Nonsteroidal anti-inflammatory drugs Physiotherapy	Joint replacement has been performed in some affected persons.

Manifestation/Concern

Treatment

Considerations/Other

Liver disease

Phlebotomy & iron chelation as needed (See Targeted Therapy.)

Although cirrhosis is not reversible by phlebotomy, persons w/cirrhosis benefit from iron removal to ↓ risk of HCC.

Vaccination against hepatitis A & B

Varices: endoscopic surveillance; prophylaxis w/nonselective beta-blockers
Ascites: salt restriction & diuretics, & paracentesis & 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.
There are no reports of liver transplantation for end-stage liver disease in persons w/TFR2-HC.

Hypogonadotropic hypogonadism

Hormone replacement therapy
Gonadotropin treatment for infertility

Usually not reversable by iron removal & therefore requires lifelong treatment

Diabetes mellitus

Insulin treatment

Iron removal may improve control of diabetes mellitus but cannot reestablish normal glucose metabolism.

Cardiac failure

Diuretics, ACE inhibitors, cardiac glycosides
Iron chelation by intravenous or subcutaneous desferrioxamine, or oral deferiprone & deferasirox

Lifelong treatment is required in those w/cardiac disease.
To date, oral deferiprone & deferasirox are not approved for treatment of TFR2-HC.

Arthropathy

Nonsteroidal anti-inflammatory drugs
Physiotherapy

Joint replacement has been performed in some affected persons.

From: TFR2-Related Hemochromatosis

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

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