1/
Reflection in Diagnosis
The day I thought I diagnosed hereditary hemochromatosis (HH)
Reflection in Diagnosis
The day I thought I diagnosed hereditary hemochromatosis (HH)
2/
He was a middle-aged man with persistent low-level “troponitis” (see previous thread), decompensated HF, hyperglycemia, and tanned (bronze-like) skin.
He was a middle-aged man with persistent low-level “troponitis” (see previous thread), decompensated HF, hyperglycemia, and tanned (bronze-like) skin.
3/
His transferrin saturation > 75% and ferritin > 500. Email sent to @Gurpreet2015 (my mentor) with excitement and pride, “we diagnosed hereditary hemochromatosis.”
His transferrin saturation > 75% and ferritin > 500. Email sent to @Gurpreet2015 (my mentor) with excitement and pride, “we diagnosed hereditary hemochromatosis.”
4/
Email returns from @Gurpreet2015, “did you ask about alcohol consumption b/c alcohol intake can mimic the iron profile of hemochromatosis.”
Email returns from @Gurpreet2015, “did you ask about alcohol consumption b/c alcohol intake can mimic the iron profile of hemochromatosis.”
5/
Back to the bedside … the patient answers “I was on a beach the last few months drinking several beers daily and bathing in the sun.”
Back to the bedside … the patient answers “I was on a beach the last few months drinking several beers daily and bathing in the sun.”
6/
How can alcohol intake mimic the iron profile of hemochromatosis?
Hepcidin, synthesized by the liver, is the major peptide involved in iron homeostasis.
Hepcidin > decreased expression of ferroportin in duodenum > decreased iron absorption
How can alcohol intake mimic the iron profile of hemochromatosis?
Hepcidin, synthesized by the liver, is the major peptide involved in iron homeostasis.
Hepcidin > decreased expression of ferroportin in duodenum > decreased iron absorption
7/
HH > hepcidin deficiency > increased ferroportinin duodenum > increased Fe absorption > increased ferritin (iron stores) + decreased transferrin (iron transporter) > increased iron/TIBC > elevated trasnferrin saturation
HH > hepcidin deficiency > increased ferroportinin duodenum > increased Fe absorption > increased ferritin (iron stores) + decreased transferrin (iron transporter) > increased iron/TIBC > elevated trasnferrin saturation
8/
Alcohol thought to decrease hepcidin + liver transferrin synthesis -> HH iron profile
Alcohol thought to decrease hepcidin + liver transferrin synthesis -> HH iron profile
9/
It was right to think of HH in a patient with tanned skin, troponin elevation, and elevated transferrin saturation.
BUT also important to ask about a much more common condition (ETOH use d/o and tanning) which can mimic HH iron profile and skin color.
It was right to think of HH in a patient with tanned skin, troponin elevation, and elevated transferrin saturation.
BUT also important to ask about a much more common condition (ETOH use d/o and tanning) which can mimic HH iron profile and skin color.
10/
Conclusion –
(1)Always trust @Gurpreet2015
(2)Always trust @rabihgeha base rate of disease (ETOH use disorder and tanning >>> HH)
Conclusion –
(1)Always trust @Gurpreet2015
(2)Always trust @rabihgeha base rate of disease (ETOH use disorder and tanning >>> HH)
