Hemochromatosis: Difference between revisions
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==Background== | ==Background== | ||
* | *Accumulation of iron in the body | ||
* | *Most commonly due to hereditary hemochromatosis (HHC) or iron overload from [[transfusion]] | ||
**Hereditary hemochromatosis most common in people of Celtic ancestry | **Hereditary hemochromatosis most common in people of Celtic ancestry | ||
*AKA "bronze diabetes" | *AKA "bronze diabetes" | ||
==Clinical Features== | ==Clinical Features== | ||
[[File:PMC4006333 CHSJ-40-1-067-fig3.png|thumb|Abdomen enlargement caused by giant hepatomegaly occupying the entire abdomen in a patient with secondary hemochromatosis.]] | |||
*[[Cirrhosis]] | *[[Cirrhosis]] | ||
*[[Diabetes]] due to iron deposition in pancreatic beta cells | *[[Diabetes]] due to iron deposition in pancreatic beta cells | ||
*[[Cardiomyopathy]] | *[[Cardiomyopathy]] | ||
* [[Arthritis]]: knuckles of the second and third fingers most common | *[[Arthritis]]: knuckles of the second and third fingers most common | ||
* Bronzing of the skin | *Bronzing of the skin | ||
==Differential Diagnosis== | ==Differential Diagnosis== | ||
{{Hepatomegaly DDX}} | |||
{{Hyperglycemia DDX}} | |||
==Evaluation== | ==Evaluation== | ||
*Serum ferritin: | *Serum ferritin: | ||
** >300 ng/mL in males and postmenopausal women | **>300 ng/mL in males and postmenopausal women | ||
** >150 - 200 ng/mL in premenopausal women | **>150 - 200 ng/mL in premenopausal women | ||
*Transferrin saturation: >45-50% is suggestive of iron overload | |||
*Outpatient HFE genetic test to confirm diagnosis | |||
==Management== | ==Management== | ||
*Phlebotomy | *Phlebotomy | ||
*Chelation with deferoxamine | *Chelation with [[deferoxamine]] | ||
==Disposition== | ==Disposition== | ||
==See Also== | ==See Also== | ||
*[[Iron toxicity]] | |||
==External Links== | ==External Links== | ||
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==References== | ==References== | ||
<references/> | <references/> | ||
[[Category:Heme/Onc]] | |||
Latest revision as of 22:37, 7 September 2022
Background
- Accumulation of iron in the body
- Most commonly due to hereditary hemochromatosis (HHC) or iron overload from transfusion
- Hereditary hemochromatosis most common in people of Celtic ancestry
- AKA "bronze diabetes"
Clinical Features
- Cirrhosis
- Diabetes due to iron deposition in pancreatic beta cells
- Cardiomyopathy
- Arthritis: knuckles of the second and third fingers most common
- Bronzing of the skin
Differential Diagnosis
Hepatic Dysfunction
Infectious
- Hepatitis
- Malaria
- HIV (present in 50% of AIDS patients)[1]
- EBV
- Babesiosis, leptospirosis
- Typhoid
- Hepatic abscess, amebiasis
Neoplastic
Metabolic
Biliary
- Biliary cirrhosis
Drugs
- Alcoholic cirrhosis
- Alcoholic hepatitis
- Hepatotoxic drugs
Miscellaneous
- Other causes of cirrhosis
- Autoimmune hepatitis
- Veno-occlusive disease
- CHF (right heart failure)
Hyperglycemia
- Physiologic stress response (rarely causes glucose >200 mg/dL)
- Diabetes mellitus (main)
- Hemochromatosis
- Iron toxicity
- Sepsis
Evaluation
- Serum ferritin:
- >300 ng/mL in males and postmenopausal women
- >150 - 200 ng/mL in premenopausal women
- Transferrin saturation: >45-50% is suggestive of iron overload
- Outpatient HFE genetic test to confirm diagnosis
Management
- Phlebotomy
- Chelation with deferoxamine
Disposition
See Also
External Links
References
- ↑ Tintanelli's