From the Guidelines
Hereditary hemochromatosis (HH) is characterized by a range of symptoms, including fatigue, joint pain, and weakness, which can progress to more severe manifestations such as liver dysfunction, cardiomyopathy, and skin hyperpigmentation 1. Common symptoms also include abdominal pain, arthralgias, chondrocalcinosis, impotence, and decreased libido 1. In advanced cases, patients may exhibit signs of liver decompensation, such as jaundice, ascites, and hepatic encephalopathy.
Key Symptoms
- Fatigue and weakness are common initial symptoms 1
- Joint pain and arthralgias are also frequent complaints 1
- Skin pigmentation and greyish-brown discoloration of the skin can occur 1
- Endocrine abnormalities such as hypogonadism, erectile dysfunction, and amenorrhea may be present 1
- Gastrointestinal symptoms like abdominal pain, nausea, and vomiting can occur 1
Advanced Symptoms
- Liver dysfunction and cirrhosis can lead to liver failure 1
- Cardiomyopathy and heart failure can occur in severe cases 1
- Diabetes and osteoporosis are also potential complications 1 It is essential to consider HH in patients presenting with these symptoms, especially if they have a family history of the disease 1. Prompt diagnosis and treatment can help prevent long-term complications and improve patient outcomes.
From the Research
Symptoms of Hereditary Hemochromatosis (HH)
The symptoms of hereditary hemochromatosis (HH) can vary, but common manifestations include:
- Chronic liver damage, hypogonadotropic hypogonadism, cardiac diseases, and endocrine dysfunctions 2
- Weakness, skin hyperpigmentation, joint pain, and amenorrhea 2
- Cardiovascular manifestations such as dilated cardiomyopathy, conduction abnormalities, heart failure, cardiac fibrosis, myocardial infarction, and valvular heart disease 3
- Liver cirrhosis, hepatocellular cancer, cardiomyopathy, and diabetes due to systemic iron overload and associated oxidative stress 4
- Endocrine dysfunction, including diabetes, hypogonadism, hypopituitarism, and abnormalities of adrenal, thyroid, and parathyroid glands 5
Organ Damage and Complications
The excess iron deposition in HH can cause damage to various organs, including:
- Liver: cirrhosis, hepatocellular cancer 4
- Heart: cardiomyopathy, heart failure, cardiac fibrosis, myocardial infarction, and valvular heart disease 3
- Pancreas: diabetes 4, 5
- Joints: joint pain 2
- Endocrine glands: hypogonadism, hypopituitarism, and abnormalities of adrenal, thyroid, and parathyroid glands 5