Patient with late‐onset Wilson's disease: Deterioration with penicillamine

Sohtaoğlu, Melis; Ergin, Hayal; Özekmekçi, Sibel; Gökdemir, Selim; Sonsuz, Abdullah; Arıcı, Ceyhun

doi:10.1002/mds.21201

Cited by 13 publications

(13 citation statements)

References 8 publications

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“…Over the last years, an evaluation is on‐going to establish the genotype‐phenotype relation in WD. The reported patient and her affected siblings further confirms our own,10, 15, 16 and other2, 7–9 previous observations suggesting that the type of mutation in ATP7B only to some degree determines the phenotypic presentation of WD. All affected members of this family (possessing the same mutation in ATP7B ) were atypically old (>40 years) at WD diagnosis.…”

Section: Results Of Laboratory Investigationssupporting

confidence: 90%

“…We believe this case is noteworthy for several reasons. Existing literature described only few cases, in which the first clinical symptoms of WD appeared within or after the fifth decade of life 7–9, 12–14. Our study further raises the question on the degree of penetrance for ATP7B mutations.…”

Section: Results Of Laboratory Investigationsmentioning

confidence: 58%

“…However, results of a recent large, multicenter studies suggest, that about 8% of patients manifest clinical WD symptoms after the age of 35 years,5 and about 4% are older that 40 at the onset 6. Two patients were previously described, who presented initial symptoms in their 60‐ties,7, 8 and one patient was diagnosed presymptomatically at the age of 63 9…”

Section: Results Of Laboratory Investigationsmentioning

confidence: 99%

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Late onset Wilson's disease: Therapeutic implications

2008

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The clinical symptoms of Wilson's disease (WD) usually develop between 3 and 40 years of age and include signs of liver and/or neurologic and psychiatric disease. We report on an 84-year-old woman with WD. Despite the absence of treatment, the only symptom she presented with, until the age of 74 years, was Kayser-Fleisher rings. At the age of 74, she developed slightly abnormal liver function. This case raises the following issues: (a) Should WD be considered in all patients of all ages who manifest signs related to the disease? (b) Are ATP7B mutations fully penetrant? (c) Should all patients diagnosed presymptomatically receive anticopper therapy?

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Section: Results Of Laboratory Investigationssupporting

confidence: 90%

Section: Results Of Laboratory Investigationsmentioning

confidence: 58%

Section: Results Of Laboratory Investigationsmentioning

confidence: 99%

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Late onset Wilson's disease: Therapeutic implications

2008

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“…In any patient presenting with dystonia, the possibility of Wilson's disease should be considered. In 2 series that, together, included more than 200 patients with neurological Wilson's disease, the age at diagnosis ranged from 7 to 39 years; however, presentation in the seventh decade and a genetically proven asymptomatic patient who manifested only Kayser‐Fleischer rings in the ninth decade have been documented. There are no evidence‐based guidelines for diagnostic testing to exclude neurological Wilson's disease, but suggested investigations include serum copper and ceruloplasmin and ophthalmological slit lamp examination to look for Kayser‐Fleischer rings, all of which occasionally may be normal.…”

Section: Diagnostic Process In a Patient With Dystoniamentioning

confidence: 99%

Assessment of patients with isolated or combined dystonia: An update on dystonia syndromes

et al. 2013

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The clinical evaluation of a patient with dystonia is a stepwise process, beginning with classification of the phenomenology of the movement disorder(s), then formulation of the dystonia syndrome, which in turn leads to a targeted etiological differential diagnosis. In recent years there have been significant advances in our understanding of the etiological basis of dystonia, aided especially by discoveries in imaging and genetics. In this article, we provide an update on the assessment of a patient with dystonia, including the phenomenology of dystonia and highlighting how to integrate clinical, imaging, blood and neurophysiological investigations in order to formulate a dystonia syndrome. Evolving or emerging dystonia syndromes are reviewed and potential etiologies of these as well as established dystonia syndromes listed in order to guide diagnostic testing.

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“…There are cases reported as early as 9 months and as late as the eighth decade [1,2,13]. So far, the oldest patient in English literature is a 77-year-old Turkish woman [14].…”

Section: Pathogenesis and Clinical Manifestationsmentioning

confidence: 99%

Histopathology of Wilson Disease

Soylu¹

2021

Liver Pathology

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Wilson Disease (WD) is a genetic metabolic disease of copper metabolism. The implicated gene is ATP7B, encodes a P-type ATPase which transports copper. The resultant defective metabolism of copper results in copper accumulation in multiple tissues especially liver, eye and central nervous system. WD occurs worldwide, usually between 5 and 35 years; a wider age range is also reported. Clinical presentations are diverse and include combinations of hepatic, neurological, ophthalmic and psychiatric manifestations. Other organs or tissues may also be affected. Biochemical abnormalities such as serum ceruloplasmin and 24-h urinary copper excretion are important for the diagnosis but are not always abnormal in WD. The liver histopathology has several different patterns from mild nonspecific changes to acute fulminant hepatitis and cirrhosis. Copper histochemistry is helpful in diagnosis. Genetic testing is another diagnostic tool. It is important to diagnose WD because it is fatal when overlooked, curable when diagnosed. The diagnosis should be keep in mind at all ages in patients with hepatic disease, neurological disease, or psychiatric symptoms.

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Patient with late‐onset Wilson's disease: Deterioration with penicillamine

Cited by 13 publications

References 8 publications

Late onset Wilson's disease: Therapeutic implications

Late onset Wilson's disease: Therapeutic implications

Assessment of patients with isolated or combined dystonia: An update on dystonia syndromes

Histopathology of Wilson Disease

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