Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee
Hereditary hyperferritinemia and cataracts syndrome (HHCS) without iron overload is a syndrome first identified less than 3 decades ago. While investigators have dissected the gene where several responsible mutations reside, it remains a relatively unknown genetic disorder to clinicians. The result...
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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2020/2837573 |
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| author | Heidi A. Worth Zachary Marlette David Aljadir Ronald Lands |
| author_facet | Heidi A. Worth Zachary Marlette David Aljadir Ronald Lands |
| author_sort | Heidi A. Worth |
| collection | DOAJ |
| description | Hereditary hyperferritinemia and cataracts syndrome (HHCS) without iron overload is a syndrome first identified less than 3 decades ago. While investigators have dissected the gene where several responsible mutations reside, it remains a relatively unknown genetic disorder to clinicians. The result is often an expensive, invasive evaluation for iron overload, followed by a well-intended prescription for a series of phlebotomies that delivers morbidity instead of benefit. We present a father with an elevated ferritin and heterozygosity for H63D HFE mutation whose clinical course followed this path. His treatment rendered him symptomatic from iron deficiency with no reduction in his ferritin. On re-evaluation, a review of his past medical history clarified the cataract surgery noted in his record had occurred at a young age. Furthermore, one of his daughters required cataract surgery as a teenager. With this information, we strongly suspected HHCS. His phlebotomies were discontinued, and within weeks, his iatrogenic iron deficiency resolved and his health returned to normal. |
| format | Article |
| id | doaj-art-2e025e97a8d241acb304b22258e3ebf6 |
| institution | Kabale University |
| issn | 2090-6560 2090-6579 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Hematology |
| spelling | doaj-art-2e025e97a8d241acb304b22258e3ebf62025-02-03T01:26:56ZengWileyCase Reports in Hematology2090-65602090-65792020-01-01202010.1155/2020/28375732837573Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East TennesseeHeidi A. Worth0Zachary Marlette1David Aljadir2Ronald Lands3Department of Medicine, Division of Hematology/Oncology, University of Tennessee Medical Center, Knoxville, TN, USADepartment of Medicine, Division of Hematology/Oncology, University of Tennessee Medical Center, Knoxville, TN, USADepartment of Medicine, Division of Hematology/Oncology, University of Tennessee Medical Center, Knoxville, TN, USADepartment of Medicine, Division of Hematology/Oncology, University of Tennessee Medical Center, Knoxville, TN, USAHereditary hyperferritinemia and cataracts syndrome (HHCS) without iron overload is a syndrome first identified less than 3 decades ago. While investigators have dissected the gene where several responsible mutations reside, it remains a relatively unknown genetic disorder to clinicians. The result is often an expensive, invasive evaluation for iron overload, followed by a well-intended prescription for a series of phlebotomies that delivers morbidity instead of benefit. We present a father with an elevated ferritin and heterozygosity for H63D HFE mutation whose clinical course followed this path. His treatment rendered him symptomatic from iron deficiency with no reduction in his ferritin. On re-evaluation, a review of his past medical history clarified the cataract surgery noted in his record had occurred at a young age. Furthermore, one of his daughters required cataract surgery as a teenager. With this information, we strongly suspected HHCS. His phlebotomies were discontinued, and within weeks, his iatrogenic iron deficiency resolved and his health returned to normal.http://dx.doi.org/10.1155/2020/2837573 |
| spellingShingle | Heidi A. Worth Zachary Marlette David Aljadir Ronald Lands Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee Case Reports in Hematology |
| title | Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee |
| title_full | Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee |
| title_fullStr | Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee |
| title_full_unstemmed | Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee |
| title_short | Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee |
| title_sort | hereditary hyperferritinemia cataract syndrome in 3 generations of a family in east tennessee |
| url | http://dx.doi.org/10.1155/2020/2837573 |
| work_keys_str_mv | AT heidiaworth hereditaryhyperferritinemiacataractsyndromein3generationsofafamilyineasttennessee AT zacharymarlette hereditaryhyperferritinemiacataractsyndromein3generationsofafamilyineasttennessee AT davidaljadir hereditaryhyperferritinemiacataractsyndromein3generationsofafamilyineasttennessee AT ronaldlands hereditaryhyperferritinemiacataractsyndromein3generationsofafamilyineasttennessee |