[Late-onset familial amyloid polyneuropathy in the Safor (Valencia) area: four case reports].
Four cases of late onset familial amyloid polyneuropathy diagnosed in relatively advanced ages and within 3 families of our area where the disease had never been described are presented. The possible origin of the mutation and need to consider this diagnosis even when there is no known family background or when the age of presentation is late are commented. The nerve biopsy does not always show the deposits as these are patchy and DNA studies or detection of abnormal TTR in serum are necessary for the diagnosis.
Tornero Estébanez
C
C
Servicio de Medicina Interna, Hospital Francisco de Borja, Gandía, Valencia, Spain. Tornero_car@gva.es
Soriano Soriano
C
C
Giménez Escrich
A
A
Rull Segura
S
S
D000367:Age Factors; D000368:Aged; D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis / Q000235:genetics / Q000401:mortality; D018450:Disease Progression; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D013030:Spain; D013997:Time Factors