Clinical Guidance

HAMP- and HJV-related hemochromatosis (HC) are characterized by early-onset severe iron overload. Individuals with HAMP- or HJV-related HC are rarely diagnosed before significant iron overload occurs. Reports of children with HAMP- or HJV-related HC presenting with severe iron overload stresses the importance of early diagnosis and treatment to avoid the development of organ damage, thus reducing morbidity and mortality . Prominent clinical features include hypogonadotropic hypogonadism, cardiomyopathy, diabetes and glucose intolerance, arthropathy, and liver fibrosis or cirrhosis. To date, approximately 160 individuals have been identified with HAMP- or HJV-related HC [, , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. HAMP- and HJV-Related Hemochromatosis: Frequency of Select Features

Diagnostic Criteria

No consensus clinical diagnostic criteria for HAMP- and HJV-related hemochromatosis (HC) have been published. However, classification of HC has been proposed . Juvenile HC is used to designate an early-onset, severe phenotype often presenting with cardiac and endocrine dysfunction .

Suggestive Findings

HAMP- and HJV-related HC should be suspected in individuals with the following clinical and supportive laboratory findings and family history.

Clinical findings

Source:

Management Guidelines

No clinical practice guidelines for HAMP- and HJV-related hemochromatosis (HC) have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder. Evaluations Following Initial Diagnosis To establish the extent of disease in an individual diagnosed with HAMP- or HJV-related HC, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. HAMP- and HJV-Related Hemochromatosis: Recommended Evaluations Following Initial Diagnosis

Surveillance Guidelines

If hepatic cirrhosis is identified, monitoring for hepatocellular cancer (HCC) is recommended. The imaging test most widely used for surveillance is ultrasonography, and a six-month interval represents a reasonable choice. The performance of ultrasonography in early detection of HCC is highly dependent on the expertise of the operator and the quality of the equipment. Thus, special training for ultrasonographers is recommended. Alpha-fetoprotein is the most widely tested biomarker in HCC, but it has a suboptimal performance as a serologic test for surveillance . Table 6 HAMP- and HJV-Related Hemochromatosis: Recommended Surveillance