From the Guidelines
Hemochromatosis diagnosis should primarily involve assessing serum iron parameters, including transferrin saturation and serum ferritin, as the first step in testing, due to their strong recommendation and consensus in the diagnosis process 1. The symptoms of hemochromatosis typically include fatigue, joint pain, abdominal discomfort, liver disease, diabetes, heart problems, skin darkening, and sexual dysfunction.
Key Diagnostic Steps
- The first step in testing for hemochromatosis is the assessment of serum iron parameters, which should include transferrin saturation and serum ferritin 1.
- Biochemical findings that indicate hemochromatosis with iron overload include elevated transferrin saturation, high ferritin, and elevated liver transaminases.
- Individuals with a positive first-degree family history of hemochromatosis should also be tested by HFE genotyping with appropriate genetic counseling because hemochromatosis is inherited in an autosomal recessive mode 1.
Important Considerations
- Transferrin saturation shows significant variability, which limits its usefulness, and blood samples for its measurement should be taken in the morning, but fasting does not improve diagnostic utility 1.
- Ferritin is not only a marker of iron overload but also an acute phase reactant, tumor marker, and indicator of increased angiogenesis, and its concentrations are often elevated in conditions associated with fatty liver disease 1.
- Screening is recommended for first-degree relatives of affected individuals, and only adults should be tested for HFE-haemochromatosis, as the risk of disease penetrance increases with age 1.
Diagnosis and Management
- Diagnosis involves blood tests measuring serum ferritin and transferrin saturation, with elevated levels suggesting iron overload, and genetic testing for HFE gene mutations confirms hereditary hemochromatosis 1.
- Early diagnosis is crucial as treatment through regular phlebotomy effectively prevents complications, and MRI techniques like T2* and R2 can non-invasively measure iron concentration in organs 1.
From the Research
Hemochromatosis Symptoms
- The symptoms of hemochromatosis are not explicitly stated in the provided study, but it is mentioned that if left untreated, the disease can cause serious illness and early death 2.
Diagnosis of Hemochromatosis
- The diagnosis of hemochromatosis involves the measurement of serum transferrin saturation and serum ferritin level 2.
- Once the diagnosis is suspected, serum ferritin levels and hepatic iron stores on liver biopsy specimens are used to assess patients for the presence of iron overload 2.
- Liver biopsy is also used to establish the presence or absence of cirrhosis, which can affect prognosis and management 2.
- A DNA-based test for the HFE gene is commercially available, but its primary use is in the detection of hemochromatosis in family members of patients with a proven case of the disease 2.
Importance of Early Diagnosis
- It is crucial to diagnose hemochromatosis before hepatic cirrhosis develops, as phlebotomy therapy can avert serious chronic disease and even lead to normal life expectancy 2.