From the Guidelines
Hereditary hemochromatosis (HH) primarily affects the liver, heart, pancreas, joints, skin, and endocrine glands, with the liver being the most severely affected organ due to iron accumulation, as stated in the most recent guidelines 1. The liver is often the first organ to be affected, developing fibrosis and potentially cirrhosis due to iron accumulation.
- The heart can develop cardiomyopathy and arrhythmias as iron deposits damage cardiac muscle.
- In the pancreas, iron overload damages beta cells, leading to diabetes mellitus.
- Joints, particularly those in the hands, hips, and knees, develop arthritis-like symptoms.
- The skin may develop a bronze or gray discoloration due to increased melanin and iron deposits.
- Endocrine glands, including the pituitary, thyroid, and gonads, can be damaged, resulting in hormonal imbalances, such as hypogonadotrophic hypogonadism and hypothyroidism, as mentioned in the guidelines 1. These effects occur because hemochromatosis causes excessive absorption of dietary iron, which accumulates in tissues when it exceeds the body's needs.
- The body lacks an efficient mechanism to eliminate excess iron, so it builds up over time, causing progressive organ damage. Early diagnosis and treatment through regular phlebotomy (blood removal) can prevent or minimize organ damage by reducing iron levels, as supported by the guidelines 1. It is essential to note that the disease can be associated with other complications, such as osteoporosis, arthropathy, and heart failure, particularly in patients with severe or early onset hemochromatosis, as stated in the guidelines 1.
From the Research
Organs Affected by Hereditary Hemochromatosis (HH)
The organs affected by hereditary hemochromatosis (HH) include:
- Liver: severely injured due to iron accumulation, leading to cirrhosis and hepatocellular carcinoma 2, 3, 4
- Heart: affected by toxic non-transferrin-bound iron, leading to cardiopathy and congestive heart failure 3, 5, 4
- Endocrine glands: affected by iron accumulation, leading to hypopituitarism, hypogonadotropic hypogonadism, and diabetes mellitus 2, 3, 4
- Joints: affected by iron accumulation, leading to joint pain, arthritis, and chondrocalcinosis 2, 3
- Pancreas: affected by iron accumulation, leading to pancreatic damage and diabetes mellitus 5, 6, 4
- Gonads: affected by iron accumulation, leading to hypogonadism 5