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A tale of two sisters.

D R Gaya¹, A L C McLay, K A Oien

¹Department of Gastroenterology, Hairmyres Hospital, Lanarkshire G75 8RG, UK. danielgaya@aol.com

Journal of Clinical Pathology

|March 30, 2004

Summary

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Hereditary haemochromatosis and non-alcoholic steatohepatitis (NASH) can present differently even in genetically similar individuals. Full investigation of abnormal liver function tests is crucial, regardless of genetic findings.

Area of Science:

Hepatology
Medical Genetics
Gastroenterology

Background:

Hereditary haemochromatosis (HH) is a common inherited disorder in Caucasian populations.
Non-alcoholic steatohepatitis (NASH) is an increasingly frequent cause for abnormal liver function tests (LFTs).
The HFE gene mutation C282Y is strongly associated with HH.

Observation:

Two sisters with similar environmental backgrounds presented with abnormal LFTs and were found to be C282Y homozygotes.
One sister exhibited clinical features consistent with hereditary haemochromatosis.
The other sister developed non-alcoholic steatohepatitis.

Findings:

This case report highlights the variable clinical manifestation of HFE gene mutations.
The findings suggest potential non-penetrance of the C282Y mutation.

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Abnormal LFTs require thorough investigation irrespective of initial genetic testing results.

Implications:

Genetic predisposition does not guarantee disease manifestation; environmental factors likely play a role.
Clinicians must consider a broad differential diagnosis for abnormal LFTs.
Comprehensive diagnostic approaches are essential for accurate patient management and treatment.