Organs Affected in Hemochromatosis
In hemochromatosis, the liver is primarily affected, followed by joints, heart, pancreas, pituitary gland, and skin, with progressive iron accumulation causing organ dysfunction and potentially life-threatening complications if left untreated. 1
Primary Affected Organs
Liver
- Most commonly and severely affected organ
- Progressive iron accumulation leads to:
- Liver fibrosis
- Cirrhosis
- Hepatocellular carcinoma (HCC) 1
Joints
- Characteristic arthropathy affecting:
- Features include:
- Early onset compared to typical osteoarthritis
- Degenerative changes with joint space narrowing
- Osteophytes and subchondral cysts
- Chondrocalcinosis in approximately 50% of cases
- Does not respond to phlebotomy treatment 1
Heart
- Particularly prevalent in juvenile forms and severe adult disease
- Manifestations include:
- Restrictive cardiomyopathy progressing to dilated cardiomyopathy
- Conduction disturbances (bradycardia, heart blocks, arrhythmias)
- Heart failure (can be fatal before age 30 if untreated)
- Sarcoplasmic iron deposition (not interstitial) 1
Endocrine System
- Pancreas: Diabetes mellitus (late sign of disease)
- Pituitary: Hypogonadotropic hypogonadism (especially in juvenile forms)
- Thyroid: Hypothyroidism 1
Skin
- Greyish-brown discoloration (bronzing) due to iron deposition and increased melanin 1
Clinical Presentation Patterns
Early Manifestations
- Weakness and fatigue
- Joint pain (arthralgia)
- Abnormal liver function tests
Advanced Disease
- Cirrhosis and hepatocellular carcinoma
- Diabetes mellitus
- Cardiomyopathy and heart failure
- Hypogonadism
- Arthropathy with joint destruction 1
Important Considerations
- Males are affected significantly more frequently than females
- Disease prevalence increases with age
- Early diagnosis and treatment with phlebotomy can prevent irreversible organ damage
- Patients with advanced fibrosis should be screened for hepatocellular carcinoma
- Arthropathy typically does not improve with iron depletion therapy and may require separate management 1
Rare Manifestations
- Oral cavity involvement with generalized burning sensation of the tongue has been reported 3
- Severe juvenile forms can present with early cardiac failure requiring heart transplantation 1
Understanding the pattern of organ involvement is crucial for early diagnosis, appropriate monitoring, and timely intervention to prevent irreversible complications of hemochromatosis.