Publication:
Hereditary hyperferritinemia-cataract syndrome in a family with HFE-H63D mutation

Simple item page
dc.contributor.authorYANIK, AHMET MERT
dc.contributor.authorYILMAZ, ASU FERGÜN
dc.contributor.authorTOPTAŞ, TAYFUR
dc.contributor.authorsEris T., YANIK A. M., Demirtas D., Yilmaz A. F., TOPTAŞ T.
dc.date.accessioned2023-06-19T07:52:26Z
dc.date.available2023-06-19T07:52:26Z
dc.date.issued2023-03-01
dc.description.abstractHereditary hyperferritinemia-cataract syndrome (HHCS) is a rare genetic condition characterized by persistent hyperferritinemia (usually ferritin >1,000 ng/mL) without tissue iron overload, with or without early-onset slow-progressing bilateral nuclear cataract. It was first identified as a new genetic disorder in 1995, and since then genetic sequencing studies have been carried out to identify associated mutations in affected families. New mutations around the world are still being reported in the iron-responsive element (IRE) of the L-ferritin gene (FTL) to this day. Many clinicians remain unaware of this rare condition. The co-occurrence of FTL mutations and hereditary hemochromatosis (HH) mutations, especially H63D, on the HFE gene has been reported in the literature, which often leads to a diagnosis of HH, missed diagnosis of HHCS, incorrect treatment with phlebotomies and the occurrence of associated iatrogenic iron deficiency anemia. We herein report the case of a 40-year-old woman with spontaneous facial freckling, bilateral cataracts, homozygosity for HFE H63D mutation, iron deficiency anemia, and hyperferritinemia, who has been treated with phlebotomy and iron chelation therapy to no avail. Eleven years after being diagnosed and treated for HH, a reevaluation of her clinical presentation, laboratory results, medical imaging, and family history led to the recognition that her case is explained not by HH, but by an alternative diagnosis, HHCS. Our main objective in this report is to increase clinical awareness about HHCS, an often-unknown differential diagnosis of hyperferritinemia without iron overload, and to prevent adverse medical interventions in HHCS patients.
dc.identifier.citationEris T., YANIK A. M., Demirtas D., Yilmaz A. F., TOPTAŞ T., "Hereditary Hyperferritinemia-Cataract Syndrome in a Family With HFE-H63D Mutation", CUREUS JOURNAL OF MEDICAL SCIENCE, cilt.15, sa.3, 2023
dc.identifier.doi10.7759/cureus.36253
dc.identifier.issn2168-8184
dc.identifier.issue3
dc.identifier.urihttps://avesis.marmara.edu.tr/api/publication/84888d25-64e3-4a2c-83ff-86817eda865b/file
dc.identifier.urihttps://hdl.handle.net/11424/290398
dc.identifier.volume15
dc.language.isoeng
dc.relation.ispartofCUREUS JOURNAL OF MEDICAL SCIENCE
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectTemel Tıp Bilimleri
dc.subjectMedicine
dc.subjectHealth Sciences
dc.subjectFundamental Medical Sciences
dc.subjectTIP, GENEL & DAHİLİ
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectMEDICINE, GENERAL & INTERNAL
dc.subjectCLINICAL MEDICINE
dc.subjectClinical Medicine (MED)
dc.subjectGenel Sağlık Meslekleri
dc.subjectPatofizyoloji
dc.subjectTemel Bilgi ve Beceriler
dc.subjectDeğerlendirme ve Teşhis
dc.subjectDahiliye
dc.subjectAile Sağlığı
dc.subjectTıp (çeşitli)
dc.subjectGenel Tıp
dc.subjectGeneral Health Professions
dc.subjectPathophysiology
dc.subjectFundamentals and Skills
dc.subjectAssessment and Diagnosis
dc.subjectInternal Medicine
dc.subjectFamily Practice
dc.subjectMedicine (miscellaneous)
dc.subjectGeneral Medicine
dc.subjectferritin
dc.subjectcataract
dc.subjecthereditary hemochromatosis
dc.subjecthyperferritinemia
dc.subjecthereditary hyperferritinemia-cataract syndrome
dc.subjectFERRITIN
dc.subjectGENE
dc.subjectferritin
dc.subjectcataract
dc.subjecthereditary hemochromatosis
dc.subjecthyperferritinemia
dc.subjecthereditary hyperferritinemia-cataract syndrome
dc.titleHereditary hyperferritinemia-cataract syndrome in a family with HFE-H63D mutation
dc.typearticle
dspace.entity.typePublication
local.avesis.id84888d25-64e3-4a2c-83ff-86817eda865b
local.indexed.atWOS
local.indexed.atPUBMED
relation.isAuthorOfPublicationc329f226-3c17-4f2a-87ca-960742c8fb51
relation.isAuthorOfPublicationc87d2c88-f541-49e0-80bb-88a4d39c5bc0
relation.isAuthorOfPublication9fce920c-15b1-4b3d-a7ec-d594843c01c1
relation.isAuthorOfPublication.latestForDiscoveryc329f226-3c17-4f2a-87ca-960742c8fb51

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
19.pdf
Size:
351.6 KB
Format:
Adobe Portable Document Format
Download

Collections

Research Outputs