From the Guidelines
Hereditary Hemochromatosis (HH) symptoms typically include weakness, fatigue, and a greyish-brown discoloration of the skin, as well as diabetes, osteoporosis, and arthropathy, with males being affected more frequently than females and disease prevalence increasing with age. The symptoms of HH can be divided into several categories, including:
- Common manifestations: diabetes, osteoporosis, and arthropathy
- Typical symptoms and signs: weakness, fatigue, and a greyish-brown discoloration of the skin
- Severe or early onset symptoms: hypogonadotrophic hypogonadism, hypothyroidism, and heart failure 1 In addition to these symptoms, patients with HH may also experience liver fibrosis, cirrhosis, and hepatocellular carcinoma (HCC) if left untreated 1. It is essential to note that the disease can be associated with various conditions, including liver disease, rheumatoid arthritis, osteoarthritis, osteoporosis, chondrocalcinosis, and diabetes mellitus 1. Early detection and treatment of HH are crucial to prevent organ damage and allow for normal life expectancy, especially for individuals with a family history of the disease 1.
From the Research
Symptoms of Hereditary Hemochromatosis (HH)
The symptoms of Hereditary Hemochromatosis (HH) can vary greatly among patients and may include:
- Fatigue 2
- Weakness 3
- Lethargy 3
- Arthralgias (joint pain) 4, 3, 2
- Impotence 4, 3, 2
- Decreased libido 2
- Abdominal pain 2
- Diabetes mellitus 4, 3, 2
- Heart failure 4, 2
- Skin discoloration 4
- Hepatic cirrhosis 4, 2
- Osteoporosis 3
- Hepatocellular cancer 3
- Cardiomyopathy 3
- Dysrhythmia 3
- Hypogonadism 3
Early Manifestations
Early manifestations of the disease are often subtle and may be absent in the early stages 3. If present, symptoms may include weakness, lethargy, arthralgias, and impotence 3.
Late Manifestations
Later manifestations of the disease can include arthralgias, osteoporosis, cirrhosis, hepatocellular cancer, cardiomyopathy, dysrhythmia, diabetes mellitus, and hypogonadism 3. Once organ damage is established, many of the manifestations are irreversible 4.