iatroX Rounds #10
The clues
- 1
A 52-year-old man presents with persistent fatigue and an aching discomfort in both hands that has been worsening over several months.
- 2
The pain specifically affects the second and third metacarpophalangeal joints, where he has noticed some swelling.
- 3
He mentions his sex drive has decreased significantly lately, and he has recently been diagnosed with new-onset diabetes mellitus.
- 4
Physical examination reveals a metallic greyish-bronze tint to the skin, particularly on sun-exposed areas, and palpable hepatomegaly.
- 5
Fasting blood tests show a transferrin saturation of 85 percent and a serum ferritin of 1,800 ug/L.
- 6
Molecular analysis confirms he is homozygous for the C282Y mutation in the HFE gene on chromosome 6.
Hereditary haemochromatosis is an autosomal recessive disorder of iron metabolism where excessive intestinal iron absorption leads to systemic iron overload. Iron is deposited in various organs, most notably the liver, pancreas, heart, and joints, eventually leading to multi-organ dysfunction if left untreated.
- Chronic fatigue and skin hyperpigmentation often described as bronzing.
- Arthropathy specifically involving the second and third metacarpophalangeal joints.
- Evidence of organ damage such as diabetes mellitus, cirrhosis, or cardiomyopathy.
- Significantly elevated transferrin saturation and serum ferritin levels.
for education and entertainment. not medical advice.