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Clinical manifestations of Wilson disease in organs other than the liver and brain.
Ann Transl Med 2019; 7(Suppl 2):S62AT

Abstract

Wilson disease (WD) is an inherited genetic disorder that is caused by copper metabolism disturbances with main hepatic, neurological, and psychiatric presentation. Deposits of copper accumulate in different organs and may cause a broad range of clinical manifestations. Patients with WD may present with ophthalmological symptoms, or renal, cardiac and osteoarticular involvement. The most common ophthalmological sign as a result of copper accumulation is the Kayser-Fleischer corneal ring, whereas sunflower cataracts are observed rarely. Retinal degeneration, present in WD patients, may serve as a marker of neurodegeneration. Osteoarticular involvement is quite common and includes osteopenia, osteoporosis and arthropathy, which may lead to bone fractures and joint problems mainly affecting knees and wrists. Renal disturbances include tubular dysfunction and renal calculi. A recent cardiac study has shown a higher risk of atrial fibrillation and heart failure in WD patients than in non-WD patients. Autonomic system dysfunction is also observed, but involvement is subclinical in most cases. Another manifestation of WD concerns endocrine system disturbances, which can lead to recurrent abortions, infertility, growth disruption, and parathyroid failure. However, it is possible to become pregnant for females with mild WD symptoms and for those who are compliant with therapy. Hematologic disturbances are frequent and may include acute hemolytic anemia, leucopenia, anemia and low platelet count. Other observed symptoms include lipomas and characteristic of WD skin changes like hyperpigmentation of the legs, xerosis or azure lunulae of the nails. In this paper, we present some of the less common, but nevertheless, important manifestations of WD.

Authors+Show Affiliations

Second Department of Neurology, Institute Psychiatry and Neurology, Warsaw, Poland.Second Department of Neurology, Institute Psychiatry and Neurology, Warsaw, Poland.Second Department of Neurology, Institute Psychiatry and Neurology, Warsaw, Poland. Department of Experimental and Clinical Pharmacology, Medical University of Warsaw, Warsaw, Poland.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

31179299

Citation

Dzieżyc-Jaworska, Karolina, et al. "Clinical Manifestations of Wilson Disease in Organs Other Than the Liver and Brain." Annals of Translational Medicine, vol. 7, no. Suppl 2, 2019, pp. S62.
Dzieżyc-Jaworska K, Litwin T, Członkowska A. Clinical manifestations of Wilson disease in organs other than the liver and brain. Ann Transl Med. 2019;7(Suppl 2):S62.
Dzieżyc-Jaworska, K., Litwin, T., & Członkowska, A. (2019). Clinical manifestations of Wilson disease in organs other than the liver and brain. Annals of Translational Medicine, 7(Suppl 2), pp. S62. doi:10.21037/atm.2019.03.30.
Dzieżyc-Jaworska K, Litwin T, Członkowska A. Clinical Manifestations of Wilson Disease in Organs Other Than the Liver and Brain. Ann Transl Med. 2019;7(Suppl 2):S62. PubMed PMID: 31179299.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical manifestations of Wilson disease in organs other than the liver and brain. AU - Dzieżyc-Jaworska,Karolina, AU - Litwin,Tomasz, AU - Członkowska,Anna, PY - 2019/6/11/entrez PY - 2019/6/11/pubmed PY - 2019/6/11/medline KW - Wilson disease (WD) KW - cardiac disturbances KW - copper toxicity KW - endocrinologic manifestations KW - ophthalmologic signs KW - renal involvement SP - S62 EP - S62 JF - Annals of translational medicine JO - Ann Transl Med VL - 7 IS - Suppl 2 N2 - Wilson disease (WD) is an inherited genetic disorder that is caused by copper metabolism disturbances with main hepatic, neurological, and psychiatric presentation. Deposits of copper accumulate in different organs and may cause a broad range of clinical manifestations. Patients with WD may present with ophthalmological symptoms, or renal, cardiac and osteoarticular involvement. The most common ophthalmological sign as a result of copper accumulation is the Kayser-Fleischer corneal ring, whereas sunflower cataracts are observed rarely. Retinal degeneration, present in WD patients, may serve as a marker of neurodegeneration. Osteoarticular involvement is quite common and includes osteopenia, osteoporosis and arthropathy, which may lead to bone fractures and joint problems mainly affecting knees and wrists. Renal disturbances include tubular dysfunction and renal calculi. A recent cardiac study has shown a higher risk of atrial fibrillation and heart failure in WD patients than in non-WD patients. Autonomic system dysfunction is also observed, but involvement is subclinical in most cases. Another manifestation of WD concerns endocrine system disturbances, which can lead to recurrent abortions, infertility, growth disruption, and parathyroid failure. However, it is possible to become pregnant for females with mild WD symptoms and for those who are compliant with therapy. Hematologic disturbances are frequent and may include acute hemolytic anemia, leucopenia, anemia and low platelet count. Other observed symptoms include lipomas and characteristic of WD skin changes like hyperpigmentation of the legs, xerosis or azure lunulae of the nails. In this paper, we present some of the less common, but nevertheless, important manifestations of WD. SN - 2305-5839 UR - https://www.unboundmedicine.com/medline/citation/31179299/Clinical_manifestations_of_Wilson_disease_in_organs_other_than_the_liver_and_brain L2 - https://doi.org/10.21037/atm.2019.03.30 DB - PRIME DP - Unbound Medicine ER -