Open AccessHemochromatosis Arthropathy in Heterozygous HFE H63D Mutation Without Iron Overload- An Entity Less Commonly Touched
Author(s) -
Pradnya Brijmohan Bhattad,
Amandeep Goyal,
Ashley N. Hamati,
Akshat Madhok,
Shobi Venkatachalam,
Divya Sree Madhuramthakam,
Vinay Jain
Publication year - 2021
Publication title -
journal of medical research
Language(s) - English
Resource type - Journals
ISSN - 2395-7565
DOI - 10.31254/jmr.2021.7108
Subject(s) - hemochromatosis , arthropathy , hereditary hemochromatosis , medicine , hepcidin , chondrocalcinosis , heterozygote advantage , compound heterozygosity , mutation , endocrinology , genetics , pathology , osteoarthritis , gene , anemia , genotype , biology , alternative medicine
Human homeostatic iron regulator protein gene (HFE gene) H63D mutations even when homozygous are rarely associated with iron overload. These mutations, independent of iron status, are associated with calcium pyrophosphate dihydrate crystal deposition disease (CPPD) leading to arthropathy even for heterozygotes. The arthropathy does not respond to iron depletion. We report a case of a 62-year-old male with chronic generalized arthralgias with no evidence of iron overload or elevated inflammatory markers with characteristic radiographic hook-like osteophytes suggestive of hemochromatosis arthropathy. Further, he was found to be a carrier of HFE H63D mutation. Recognition of the association can help guide goal directed management.