I posted the following poll on Twitter that referred to the lab values in the graphic below.
The data are most consistent with hereditary hyperferritinemia cataract syndrome (HHCS). Thus, the correct answer was cataracts.
An annotated version of the data is presented in the graphic. Bottom line is that the symptoms and CBC were suggestive of iron deficiency but the was ferritin inexplicably high.
There are really only two conditions that can explain such a high ferritin level in the absence of any iron stores:
- Ferritin leak (e.g., cell necrosis)
- HHCS
Indeed, this was case of HHCS. His genotyping result is shown next:
The patient’s symptoms resolved with iron therapy.
HHCS is a rare autosomal dominant disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue Fe overload. Prevalence about 1 in 200,000 individuals. Caused by mutation in IRE. Only clinical manifestation = cataracts
