A pigmented octogenarian.
An 81-year-old woman presented with cachexia, malaise, deranged liver function tests (LFTs), hepatomegaly and hyperpigmentation. Hereditary haemochromatosis (HH) was ultimately diagnosed on genetic testing. Haemochromatosis is a difficult diagnosis in older people because not only are the symptoms protean and occur commonly in other geriatric conditions, but HH is also considered an unlikely new diagnosis in the over 80s; it is generally felt to present in the 5th decade for men or 6th decade for women. However, older people can present with only mild disease, so diagnosis is important not just for family screening but also since treatment can reduce unnecessary morbidity and mortality in a population with increasing longevity.
Wolf
Maya
M
Care of the Elderly Department, North Middlesex University Hospital NHS Trust, Sterling Way, London, Greater London N181QX, UK. maya@doctormayawolf.com
Brice
Sarah E
SE
Fertleman
Michael
M
D000369:Aged, 80 and over; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006432:Hemochromatosis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D006485:Hemosiderin / Q000378:metabolism; D006801:Humans; D008107:Liver Diseases / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D018962:Phlebotomy; D010859:Pigmentation Disorders / Q000209:etiology* / Q000235:genetics; D014168:Transferrin / Q000235:genetics / Q000378:metabolism*; D016896:Treatment Outcome
D014168:Transferrin; D006485:Hemosiderin