Late-Onset Wilson's Disease (original) (raw)

WILSON'S DISEASE: A REVIEW OF TWO CLINICAL CASES AND LITERATURE REVIEW (Atena Editora)

WILSON'S DISEASE: A REVIEW OF TWO CLINICAL CASES AND LITERATURE REVIEW (Atena Editora), 2024

Wilson's disease, also known as hepatolenticular degeneration, is a rare genetic disease of copper metabolism. Its basic pathophysiology is a mutation in the ATP7B gene, which results in a defective protein for the transport of this metal. As a result, excessive accumulation of copper occurs in the body, especially in the brain and liver, causing neurological, psychiatric, ophthalmic and hepatic symptoms. Thus, clinical presentations are varied and the diagnosis represents a challenge for health professionals, as it is not always obtained in a simple way, requiring a high level of suspicion and inclusion of Wilson's disease in the list of differential diagnoses in patients with presentations complex clinics. Although difficult, the diagnosis is extremely important, as at the same time, the institution of treatment prevents the onset of a degenerative and debilitating condition. In this context, the present work aims to report two clinical cases of patients with Wilson's disease, in addition to carrying out a narrative review of the literature on the topic.

Wilson’s Disease - A Case Report

International Journal of Contemporary Medical Research [IJCMR], 2019

Introduction: Wilson's disease (WD) is a disorder of copper metabolism leading to the accumulation of this metal in different organs. Hepatic manifestations tend to occur in the first decade and neurological symptoms in the third decade. Neurological manifestations are said to worsen with chelation therapy. Case report: In our patient however the initial manifestation was head tremor at the age of 43 years which improved with treatment. The patient for some reason stopped the therapy for 8 years after which he decided to resume it only to precipitate the liver cirrhosis clinically -something that has not been reported earlier. The diagnosis was missed initially. However treatment produced good results. The case also serves as a reminder not to dismiss this disease as a rare theoretical possibility but to suspect it in a case of liver cirrhosis of unknown etiology or when the patient presents with an obscure isolated neurological sign such as tremor. Delayed recognition of the disease or stopping therapy can lead to a progression of the disease. The patient had many unusual features which are being reported for future reference by researchers and practioners.

Wilson’s disease: A case report with review of literature

Indian Journal of Case Reports, 2018

Wilson's disease is a rare inborn error of metabolism characterized by abnormal deposition of copper in various tissues caused by the inability to excrete copper into the bile. Wilson's disease is also known as hepatolenticular degeneration because liver and lentiform nuclei in the brain are the most commonly involved areas. Cerebral involvement in Wilson's disease results in typical characteristic radiological signs on magnetic resonance imaging (MRI). Here, we report the case of a 27-year-old female who presented with neurologic manifestations and diagnosed as Wilson's disease with typical MRI findings.

Wilson’s disease: A Review on Clinical Presentation, Diagnostic Methods and Treatment

International Journal of Health Sciences and Research, 2016

Wilson’s disease is an inherited disorder characterized by the excessive accumulation of copper or abnormal copper metabolism. It occurs predominantly in the liver and brain. The genetic factor leading to Wilson’s disease is the mutation of copper transporting gene ATP7B.The main clinical symptoms in Wilson’s disease include neurological, psychiatric and hepatic. The primary treatment in Wilson’s disease is use of copper chelating agent such as D-penicillamine and trientine. This review discusses the pathophysiology, etiology, clinical presentation, diagnosis and management of Wilson’s disease.

Wilson’s Disease Presenting in Late Adult Life

Case Reports in Gastroenterology, 2021

Wilson’s disease (WD) is an autosomal recessive disease affecting the copper metabolism resulting in various clinical presentations. Diagnosis includes the presence of low serum copper and ceruloplasmin concentrations, increased urinary copper excretion, and/or increased hepatic copper concentrations. Yet, genetic testing remains diagnostic. Management includes copper chelating agents and liver transplant in advance cases. We report a case of WD presenting with liver function impairment in late adult life and started on treatment. Therefore, early diagnosis and treatment of WD can prevent related complications.

Challenging diagnosis of Wilson’s disease – a case report

2023

Wilson's disease is a rare inherited disorder of copper metabolism. If left untreated, it can turn into a multi systemic disease with copper deposition in the liver, brain, and other tissues. Diagnosis of Wilson's is delayed in Pakistan by many years on average due to variable presentations. In adolescents, the initial signs are more likely to be neuropsychiatric. Here we present a case of Wilson's disease that presented initially with hepatic symptoms and did not have signs specific to the disease such as Kayser-Fleischer rings. Our case was diagnosed to be Wilson's Disease only on further investigations and subsequently the patient was treated with chelation therapy using D-Penicillamine.Wilson's Disease should be kept in mind as a differential diagnosis in adolescent patients that present with unexplained acute liver failure and cytopenias without any neurological symptoms, as a missed diagnosis can prove to be fatal.

Wilson’s Disease with Late Hepatic Involvement

JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH

Wilson’s Disease (WD) is an autosomal recessive condition that affects copper metabolism and manifests itself clinically in different ways. The diagnosis is indicated by low serum copper and ceruloplasmin concentrations, increased urine copper excretion and/ or increased hepatic copper concentrations. The present case report is about a 55-year-old male with chief complaints of loss of appetite, abdominal swelling, tremors in hand and head, slurring of speech for 10 days. Ultrasound (USG) findings were suggestive of liver cirrhosis with portal hypertension and liver function tests were also deranged. He was prescribed diuretics and asked to review after 10 days. Kayser-Fleischer ring was observed through slit lamp examination in both the eyes, which is a hallmark of WD. The Magnetic Resonance Imaging (MRI) of brain also revealed positive findings-hyperintensity throughout the mesencephalon for WD. Thereafter, the patient was treated with penicillamine and his symptoms improved after ...

Liver changes in Wilson's disease: the full spectrum. A report of 127 biopsies from 43 patients

European review for medical and pharmacological sciences, 2021

OBJECTIVE Wilson's Disease (WD) is an autosomal recessive copper overload. Several mutations of the copper pump named ATP7B have been involved. WD is difficult to diagnose mainly because of its heterogeneity of presentation. The histologic spectrum is wide and not specific, ranging from very mild changes to severe disease. The histological picture of WD may overlap different conditions, including ALD, NAFLD, viral hepatitis or autoimmune liver disease. PATIENTS AND METHODS We describe our experience on WD based on a single-center series of liver biopsies. One-hundred twenty-seven liver samples from 43 Sardinian WD patients were reviewed. The most reported pattern was steatohepatitis, accounting 82/127 biopsies (64.6%), followed by hepatitis in 25 biopsies (19.7%), and steatosis in 20 biopsies (15.7%). RESULTS As for the elementary lesions, inflammation, steatosis, glycogenated nuclei and ballooning were the most frequent, being found in 107, 102, 90 and 86 biopsies out of the 12...

Wilson ’s Disease: A Short Review

Khyber Medical University Journal, 2011

Although first described in the early 1900s, the pathogenesis of Wilson's disease was identified in the mid-1900s. It is an inherited error of copper metabolism that predominantly presents with hepatic and/or neurological manifestations. Hepatic form of Wilson's disease can have varied presentations from acute hepatitis to liver cirrhosis and end stage liver disease necessitating liver transplantation. In addition to the liver and brain other organs like eyes, kidneys and bones are frequently involved. Although infrequent, Wilson's disease is not rare in Neuromedicine, Hepatology and Ophthalmology practices. Chelation therapy remains the mainstay of treatment and several copper chelating agents are now available.

Wilson's disease: A Clinical autopsy case report with review of literature

Journal of natural science, biology, and medicine

Wilson's disease is an autosomal recessive disease resulting in defective copper metabolism, which is usually seen in young adults, predominantly affecting liver and brain. Although it is not uncommon in India, variation in epidemiology, clinical presentation and course are reported. However, community-based incidence and prevalence rates are not available in India and incidences are limited to hospital based reports. Most often, the diagnosis is delayed. We present a clinical autopsy case in a 39 year-old female who had presented with clinical symptoms at 18 years of age. The duration of illness was 21 years. Patient's parent had consanguineous marriage and the younger sibling had died at 5 years of age with similar complaints.