Hereditary hemochromatosis may be asymptomatic in 75% of patients or may present with general and/or organ-related signs and symptoms. Early symptoms include severe fatigue, impotence and arthralgia (joint pain).
Clinical manifestation of hemochromatosis includes:
- liver disease: hepatomegaly (enlargement of liver), cirrhosis (fibrous degeneration of liver)
- diabetes mellitus (48% of cases)
- skin bronzing or hyperpigmentation (70% of cases)
- impotence, amenorrhoea (absence of periods), hypogonadism (reduced sexual characteristics)
- arthropathy (disease of the joint/s)
- cardiomyopathy (disease of the heart muscle)
- osteoporosis (brittle and fragile bones from loss of tissue)
- koilonychia (spoon-shaped nails)
- hair loss
Complications of hemochromatosis:
If untreated, hemochromatosis may lead to death from cirrhosis, diabetes mellitus, malignant hepatoma (liver cancer) or cardiac disease. The following is a full list of possible complications related to this disease:
- liver cirrhosis
- hepatocellular carcinoma (liver cancer)
- congestive heart failure (enlargement of heart and loss of its pump function)
- cardiac arrhythmias (irregular heart beats - palpitations)
- diabetes mellitus
- hypogonadism (incomplete/reduced sexual development)
- thyroid dysfunction
- sepsis (generalized infection)
Diagnosis is established by the presence of clinical features (diffuse hyperpigmentation, hepatomegaly, diabetes mellitus) and biochemical abnormalitis of the iron metabolism and genotypic investigations.
If you present any of the above symptoms, early presentation to your GP for differential diagnosis could help the prognosis of this disease.
Charlestown Medical Centre could organise this for you if needed.