A Swedish family with the rare Phe33Leu transthyretin mutation.
Familial amyloidotic polyneuropathy (FAP) designates TTR mutations where the phenotype is dominated by a peripheral sensory-motor polyneuropathy. The most common mutation is ATTR Val30Met. FAP in association with ATTR Phe33Leu has been described previously in two American families, one of Polish-Lithuanian descent and the other of Polish-American. In this study, we report the phenotype of the ATTR Phe33Leu in a Swedish family. The proband is a 48 year-old patient from northern Sweden, whose father died with symptoms suggestive of FAP. Characteristic clinical features included polyneuropathy, carpal tunnel syndrome and asymptomatic, but echocardiographic examination diagnosed cardiomyopathy. The family history supports an early intervention with orthotopic liver transplantation in patients with FAP associated with the TTR Phe33Leu, and the patient was submitted for liver transplantation.
Holmgren
Gösta
G
Department of Medical and Clinical Genetics/Medical Bioscience, Umeå University Hospital, Sweden. gosta.holmgren@medbio.umu.se
Hellman
Urban
U
Jonasson
Jenni
J
Lundgren
Hans-Eric
HE
Westermark
Per
P
Suhr
Ole B
OB
D028227:Amyloid Neuropathies, Familial / Q000235:genetics; D002349:Carpal Tunnel Syndrome / Q000235:genetics; D005260:Female; D006801:Humans; D007930:Leucine / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D010649:Phenylalanine / Q000235:genetics*; D011228:Prealbumin / Q000235:genetics*; D013548:Sweden
D011228:Prealbumin; D010649:Phenylalanine; D007930:Leucine