Letter to the editor

Olsson, Sten‐Erik; Raha-Chowdhury, Ruma

doi:10.1111/j.1600-0609.2011.01711.x

Cited by 3 publications

(3 citation statements)

References 12 publications

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“…Because WD is a rare disease, it may not be included in differential diagnosis of liver disease although its prevalence is probably significantly higher than the number of clinically diagnosed cases[ 7 ]. A delayed diagnosis is not uncommon, as in another Swedish female observed during family screening of HH[ 8 ] in which WD was confirmed by sequencing of ATP7B showing homozygosity for the variant c.3207C>A (His1069Gln)[ 9 ].…”

Section: Discussionmentioning

confidence: 99%

Hemorrhagic colitis induced by trientine in a 51-year-old patient with Wilson’s disease waiting for liver transplantation: A case report

Schult¹,

Andersson²,

Asin-Cayuela³

et al. 2022

WJH

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BACKGROUND Wilson’s disease (WD) is a rare inherited disorder of copper metabolism. Treatment consists of chelating agents, but side effects are common. We describe a patient who developed colitis during trientine treatment leading to decompensation of liver cirrhosis. CASE SUMMARY A healthy 51-year-old woman was diagnosed with liver cirrhosis due to decompensation with ascites. Etiologic evaluation raised suspicion of hereditary hemochromatosis because of compound heterozygosity HFE p.C282Y/p.H63D, and phlebotomy was started. Re-evaluation showed low ceruloplasmin, increased urinary copper excretion and the presence of Kayser-Fleischer rings. WD was confirmed by genetic analysis. Because of decompensated cirrhosis, she was referred for liver transplant evaluation. Simultaneously, treatment with trientine was initiated. Liver function initially stabilized, and the patient was not accepted for a liver transplant. Shortly after this, she developed severe hemorrhagic colitis, most probably a side effect of trientine. During that episode, she decompensated with hepatic encephalopathy. Because of a second decompensating event, she was accepted for liver transplantation, and an uneventful transplantation was carried out after clinical improvement of colitis. CONCLUSION Despite WD being a rare disorder, it is important to consider because it can present with a plethora of symptoms from childhood to an elderly age. Colitis should be recognized as a serious adverse drug reaction to trientine treatment that can result in decompensated liver disease.

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Section: Discussionmentioning

confidence: 99%

Hemorrhagic colitis induced by trientine in a 51-year-old patient with Wilson’s disease waiting for liver transplantation: A case report

Schult¹,

Andersson²,

Asin-Cayuela³

et al. 2022

WJH

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“…Paradoxically these and other north European countries today demonstrate the highest mutation frequencies in the world, suggesting selective advantages [ 6 , 7 ]. A recent study seemed to indicate that that the HFE /p.C282Y could segregate other mutations, when Wilson´s disease (WND), a rare recessive copper loading disorder [ 8 , 9 ] appeared in a HH family of the Swedish west coast. Shortly afterwards this was repeated in a deep HFE family of the Fjällsjö river in northern Jämtland [ 10 ].…”

Section: Introductionmentioning

confidence: 99%

Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes

et al. 2017

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BackgroundGenealogy and molecular genetic studies of a Swedish river valley population resulted in a large pedigree, showing that the hereditary hemochromatosis (HH) HFE/p.C282Y mutation is inherited with other recessive disorders such as Wilson´s disease (WND), a rare recessive disorder of copper overload. The population also contain individuals with the Swedish long QT syndrome (LQTS1) founder mutation (KCNQ1/p.Y111C) which in homozygotes causes the Jervell & Lange Nielsen syndrome (JLNS) and hearing loss (HL).Aims of the study were to test whether the Swedish long QT founder mutation originated in an ancestral HFE family and if carriers had an increased risk for hemochromatosis (HH), a treatable disorder. We also aimed to identify the pathogenic mutation causing the hearing loss disorder segregating in the pedigree.MethodsLQTS patients were asked about their ancestry and possible origin in a HH family. They were also offered a predictive testing for the HFE genotype. Church books were screened for families with hearing loss. One HH family had two members with hearing loss, who underwent molecular genetic analysis of the LQTS founder mutation, connexin 26 and thereafter exome sequencing. Another family with hearing loss in repeat generations was also analyzed for connexin 26 and underwent exome sequencing.ResultsOf nine LQTS patients studied, four carried a HFE mutation (two p.C282Y, two p.H63D), none was homozygous. Three LQTS patients confirmed origin in a female founder ( b 1694, identical to AJ b 1694, a HFE pedigree member from the Fax river. Her descent of 44 HH families, included also 29 families with hearing loss (HL) suggesting JLNS. Eleven LQTS probands confirmed origin in a second founder couple (b 1614/1605) in which the woman b 1605 was identical to a HFE pedigree member from the Fjällsjö river. In her descent there were not only 64 HH, six WND families, one JLNS, but also 48 hearing loss families. Most hearing loss was non syndromic and caused by founder effects of the late 16th century. One was of Swedish origin carrying the WHRN, c.1977delC, (p.S660Afs*30) mutation, the other was a TMC1(NM_138691),c.1814T>C,(p.L605P) mutation, possibly of Finnish origin.ConclusionsDeep human HFE genealogies show HFE to be associated with other genetic disorders like Wilson´s disease, LQTS, JLNS, and autosomal recessive hearing loss. Two new homozygous HL mutations in WHRN/p.S660Afs*30 and TMC1/p.L605P were identified,none of them previously reported from Scandinavia. The rarity of JLNS was possibly caused by miscarriage or intrauterine death. Most hearing loss (81.7%) was seen after 1844 when first cousin marriages were permitted. However, only 10 (10.3%) came from 1st cousin unions and only 2 (2.0 %) was born out of wedlock.Electronic supplementary materialThe online version of this article (10.1186/s41065-017-0052-2) contains supplementary material, which is available to authorized users.

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“…It is caused by mutations of the ATP7B gene in chromosome 13 and has a worldwide spread. The present study was prompted by the finding of a case of WND, a 20-year-old still healthy female, when investigating a family with hereditary hemochromatosis (HH), another metal retention disease (with iron), also recessively inherited [2][3][4]. Most cases of HH are homozygous for the HFE C282Y mutation, which is a common mutation having a north European origin, reaching high frequencies in isolated areas due to local founder effects [4,5].…”

Section: Introductionmentioning

confidence: 99%

Common local founder effects for Wilson's disease and hereditary hemochromatosis; mutation studies of a large family

Olsson

Wålinder

Kindmark

2012

Scandinavian Journal of Gastroenterology

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Letter to the editor

Cited by 3 publications

References 12 publications

Hemorrhagic colitis induced by trientine in a 51-year-old patient with Wilson’s disease waiting for liver transplantation: A case report

Hemorrhagic colitis induced by trientine in a 51-year-old patient with Wilson’s disease waiting for liver transplantation: A case report

Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes

Common local founder effects for Wilson's disease and hereditary hemochromatosis; mutation studies of a large family

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