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Review
. 2023 Feb;42(2):597-606.
doi: 10.1007/s10067-022-06465-9. Epub 2022 Dec 11.

Heme oxygenase-1 deficiency as an extremely rare cause of AA-type renal amyloidosis: Expanding the clinical features and review of the literature

Ahmet Burak Dirim  1 , Tugba Kalayci  2 , Seda Safak  3 , Nurane Garayeva  3 , Burak Gultekin  3 , Ozge Hurdogan  4 , Seyhun Solakoglu  5 , Halil Yazici  3 , Kivanc Cefle  2 , Sukru Ozturk  2 , Alaattin Yildiz  3
Affiliations
Review

Heme oxygenase-1 deficiency as an extremely rare cause of AA-type renal amyloidosis: Expanding the clinical features and review of the literature

Ahmet Burak Dirim et al. Clin Rheumatol. 2023 Feb.

Abstract

Heme oxygenase-1 (HMOX-1) is an enzyme that regulates heme degradation. Antiinflammatory, antioxidant, and cytoprotective effects of HMOX-1 were also described. It is encoded by the HMOX1 gene, and biallelic mutations cause HMOX-1 deficiency, which is a rare chronic multisystemic inflammatory disorder. This inflammatory status could lead to the development of secondary AA-type amyloidosis theoretically. Here, we report a 30-year-old male with AA-type renal amyloidosis due to a chronic inflammatory condition of unknown origin. Paternal consanguinity and dysmorphic features raised suspicion of a rare genetic disorder. Clinical exome sequencing (CES) confirmed the HMOX-1 deficiency diagnosis related to homozygous missense G139V mutation. To the best of our knowledge, our patient is the eleventh HMOX-1 deficiency case in the literature. Also, HMOX-1 deficiency-related systemic AA-type amyloidosis has not been reported before.

Keywords: Amyloidosis; HMOX-1; Inflammation; Serum amyloid A.

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