Late onset fulminant Wilson’s disease: A case report and review of the literature

Table 1 Baseline characteristics at diagnosis of late onset Wilson's disease - literature review

Ref.	n	Mean age (yr)	Diagnosis	Fulminant	Hepatic	Neurologic	Ceruloplasmin (mg/dL)	KayserFleischer ring	Mutation	Copper (μg) per gram liver dry weight
Fitzgerald et al[3]	1	55	Possible	No	Yes	No	NA	NA	NA	NA
Członkowska et al[4]	1	46	NA	No	NA	Yes	NA	NA	NA	NA
Ross et al[5]	1	57	Definite	No	No	Yes	14	No	NA	400
Hefter et al[6]	1	60	Possible	No	No	Yes	13	No	NA	356
Dib et al[7]	1	57	Possible	No	No	No	7	No	NA	1300
Ala et al[8]	2	70-72	Definite	No	Yes	Yes	37	Yes	E1064A and H1069Q	671
Perri et al[9]	1	60	Definite	No	Yes	No	Normal	No	H1069Q and E1064A	1021
Członkowska et al[10]	1	84	Definite	No	Yes	No	33.4	Yes	H1069Q	NA
Danks et al[11]	4	43-58	Definite in 3 patients	Yes in 2 patients	Yes	No	12-normal	No	NA	717-1199
Gow et al[12]	5	44-58	Definite	Yes in 2 patients	Yes	No	14-37	Yes in 2 patients	NA	516-1526
Pilloni et al[13]	5	40-57	NA	NA	yes	NA	NA	NA	NA	NA
Ferenci et al[14]	46	40-57	39 diagnosed on clinical grounds; 33 diagnosed by mutation, 5 patients diagnosis possible	Yes in 1 patient	Yes in 15 patients	Yes in 31 patients	< 20 mg/dL in 41 patients	Yes in 32 patients	H1069Q/H1069Q in 13, H1069Q/R969Q in 3, H1069Q/other in 4 patients	Liver copper> 250 in 13 of 17 biopsied patients
Current case	1	58	Definite	Yes	Yes	No	12	No	G1099S and c.1707+3insT	986

Reviewing the literature on late onset Wilson's disease (WD), we have detected 70 reported cases (including our case): 8 case reports[3-10], 3 case series[11-13] and one large study[14]. NA: Not applicable.