Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm

Table 3 Initial symptoms of ATTR-FAP Val30Met patients in Japan

	Ando Y et al., 2005 [52]	Ikeda S et al., 1987 [53]	Koike H et al., 2002 [16]		Koike H et al., 2012 [20]
		Early onset^a	Early onset^a	Late onset^b	Late onset^b
Patients, n	117	45	82	59	50
Mean ± SD age of onset, years	35.3	33.4^c, 34.2^d	31.9 ± 7.6	62.5 ± 6.2	64.5 ± 6.5
Sensory-motor symptoms, n (%)
Sensory disturbances in lower limbs	52 (44.4)	22 (48.9)
Neuropathic symptoms			47 (57.3)	48 (81.4)	40 (80.0)
Carpal tunnel syndrome
Muscle weakness in lower limbs	3 (2.6)	3 (6.7)
Autonomic and GI symptoms, n (%)	48 (41.0)	19 (42.2)	39 (48.0)	6 (10.2)
Autonomic symptoms	10 (8.5)				5 (10.0)
Erectile dysfunction/impotence	5 (4.3)	4 (8.9)
Orthostatic hypotension/faintness/syncope	5 (4.3)	3 (6.7)
GI symptoms	38 (32.5)
Anorexia		2 (4.4)
Constipation		8 (17.8)
Diarrhea		2 (4.4)
Weight loss, n (%)			4 (4.9)	0
Cardiac symptoms, n (%)	5 (4.3)		0	3 (5.1)	2 (4.0)
Renal dysfunction, n (%)	5 (4.3)
Ocular symptoms, n (%)	4 (3.4)		0	1 (1.7)	3 (6.0)
Bullous formations, n (%)		1 (2.2)

ATTR-FAP Transthyretin familial amyloid polyneuropathy, GI Gastrointestinal, SD Standard deviation, Val30Met Replacement of valine with methionine at position 30 in the TTR gene
^aAge <50 years at symptomatic disease onset
^bAge ≥50 years at symptomatic disease onset
^cMen, n = 23 (51.1%)
^dWomen, n = 22 (48.9%)

ISSN: 1750-1172