What Are the Early Symptoms of Hemochromatosis?

Alcoholism is a risk factor for developing secondary hemochromatosis. Avoiding alcohol or drinking in moderation may help prevent some cases of the disease.

Hemochromatosis is the accumulation of excess iron in the body. There are two main types of hemochromatosis:

• Hereditary (primary) hemochromatosis is a common autosomal recessive genetic disorder and the most common cause of severe iron overload, in which excess iron accumulates in the body’s tissues. 
• Secondary hemochromatosis is brought on by other medical disorders that result in a buildup of iron. 

Many patients with hereditary hemochromatosis may have no symptoms or may have general symptoms that do not seem specific to iron overload. 

Early symptoms of hemochromatosis include:

• Severe fatigue 
• Impotence 
• Joint pain/arthritis
• Enlarged liver (hepatomegaly)
• Skin bronzing or hyperpigmentation 

Other signs and symptoms of hemochromatosis include:

• Liver disease (cirrhosis usually occurs late in the disease)
• Diabetes mellitus 
• Missed menstrual periods
• Diminished sex hormones (hypogonadism)
• Heart muscle disease (cardiomyopathy)
• Weak, brittle bones (osteopenia and osteoporosis)
• Hair loss
• Spoon nails (koilonychia)
• Thyroid disease or liver cancer (rare)

Hereditary (primary) hemochromatosis is an inherited disorder caused by genetic mutations, usually in the HFE gene ("H" stands for hereditary or "high"; "Fe" is the chemical symbol for iron). In most cases, a defective gene is inherited from both parents. 

Secondary hemochromatosis is caused by other medical disorders that result in a buildup of iron in the body such as:

• Red blood cell production disorders such as sickle cell anemia, sideroblastic anemia, thalassemia, X-linked hereditary spherocytosis, pyruvate kinase deficiency, and congenital dyserythropoietic anemia (CDA)
• Blood transfusions
• Anemia
• Chronic liver disease
• Kidney dialysis

Many patients with hemochromatosis are asymptomatic and are diagnosed when elevated iron levels are found on routine blood tests. 

Tests that may be used to help diagnose hemochromatosis include:

• Genetic testing: Examination of HFE mutations (C282Y, H63D) 
• Transferrin saturation levels
• Serum ferritin studies
• Hepatic iron concentration
• Electrocardiogram (ECG) can note supraventricular arrhythmias are often revealed on ECGs
• Chest X-rays and echocardiography may help evaluate patients with hemochromatosis and cardiac disease
• MRI might be helpful to help quantify hepatic iron levels

Other procedures that may be used to diagnose patients with hemochromatosis include:

• Diagnostic endoscopy
• Skin biopsy
• Liver biopsy 

The goal of treatment in patients with hemochromatosis is to remove excess iron from the body before it can cause tissue damage. 

• Phlebotomy is the primary recommended treatment for hemochromatosis. Phlebotomy involves the removal of blood, similar to the process when one donates blood, to help rid the body of excess iron and to maintain normal iron stores. 
• Chelation therapy involves the use of medications to remove heavy metals such as iron from the body. This treatment is used in patients with hemochromatosis and heart disease, anemia, or poor venous access. Chelating agents include:
  • Deferoxamine (Desferal)
  • Deferasirox (Exjade, Desirox, Defrijet, Desifer, Rasiroxpine, Jadenu) 
  • Deferiprone (Ferriprox)
  • Iron-binding dendrimers
• Surgery is used to treat complications of hemochromatosis
  • End-stage liver disease requires orthotropic liver transplantation 
  • Severe arthropathy (joint disease) may require arthroplasty (joint repair) if joint destruction becomes severe 

Complications of hemochromatosis include:

• Liver cirrhosis
• End-stage liver disease 
• Liver cancer (hepatocellular carcinoma)
• Congestive heart failure
• Cardiac arrhythmias
• Diabetes mellitus
• Hypogonadism
• Impotence
• Severe joint disease 
• Thyroid dysfunction
• Sepsis

Most patients who have hemochromatosis have a normal life expectancy. 

Patients who develop cirrhosis or diabetes mellitus may have shortened lifespans.

Alcoholism is a risk factor for developing secondary hemochromatosis. Avoiding alcohol or drinking in moderation may help prevent some cases of the disease. 

Taking iron supplements increases iron in the blood, and taking vitamin C supplements increases iron absorption in the blood, so if you have been diagnosed with hemochromatosis you may be able to prevent complications by adjusting iron and vitamin C intake. Talk to your doctor about any supplements you take.