The presentation of Wilson's disease


Patients with Wilson's disease present with various phenotypes, their age of onset range from 8-month to 74-year (1-2), and their clinical manifestations ranging from asymptomatic liver damage to acute liver failure and neurologic symptoms.

      1. Asymptomatic liver damage: the patients are generally identified as elevated transaminase, and some are identified as siblings of a proband.

      2. Hepatic presentation: the patients generally present as chronic hepatitis, cirrhosis, acute liver failure, fatty liver, splenomegaly, jaundice, ascites, et al (3-4).

      3. Neurologic presentation: the patients generally present as dystonia, tremors, gait abnormality, dysarthria, swallowing difficulty, salivation, Parkinsonism, choreoathetosis, seizures, clumsiness, incoordination, behavioral changes, deteriorating school performance, depression, anxiety, and psychosis (5-6).

      4. K-F rings: it's a characteristic performance of WD, but some patients may not present this symptom (7).

      5. Other symptoms: Arthralgia, arthritis, fractures, osteoporosis, osteomalacia, chondromalacia, renal stones, renal tubular acidosis, fanconi syndrome, hemolytic anemia, thrombocytopenia, pancytopenia, coagulopathy (8-11).


1. Abuduxikuer K, Li LT, Qiu YL, Wang NL, Wang JS. Wilson disease with hepatic presentation in an eight-month-old boy. World J Gastroenterol. 2015;21:8981–4. 15. 

2. Czlonkowska A, Rodo M, Gromadzka G. Late onset Wilson’s disease: therapeutic implications. Mov Disord. 2008;23:896–8. 16.

3. Huang JY, Shih HH. Edema and Cirrhosis Caused by Wilson's Disease. Pediatr Neonatol. 2015.56(6):439-440.

4. Kumar V. Plasma exchange for hemolytic crisis and acute liver failure in Wilson disease:correspondence.Indian J Pediatr.2014.81(6):633.

5. Członkowska A, Litwin T, Chabik G.Wilson disease: neurologic features. Handb Clin Neurol.2017.142:101-119.

6. Machado A, Chien HF, Deguti MM,et al. Neurological manifestations in Wilson's disease: Report of 119 cases. Mov Disord.2006.21(12):2192-2196

7. Ram J,Gupta A.Kayser-Fleischer ring and sunflower cataract in Wilson disease.JAMA Ophthalmol.2014.132(7):873

8. Wang H, Zhou Z, Hu J, et al. Renal impairment in different phenotypes of Wilson disease. Neurol Sci.2015.36(11):2111-2115.

9. Ghosh L, Shah M, Pate S, et al. Wilson's disease presenting with hypokalemia, hypoparathyroidism and renal failure.J Assoc Physicians India.2012.60: 57-59.

10. Ozçakar ZB, Ekim M, Ensari A,et al. Membranoproliferative glomerulonephritis in a patient with Wilson's disease.J Nephrol.2006.19(6):831-833.

11. Quemeneur AS, Trocello JM, Ea HK, et al. Bone status and fractures in 85 adults with Wilson's disease. Osteoporos Int.2014.25(11):2573-2580.

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