Table 1 Baseline demographic and clinical characteristics of the patients with hereditary transthyretin amyloidosis (n = 16)⁶.

Subject and sex	TTR variant	Age at onset	Age at evaluation	FAP stage	PND score	Systemic involvement	NIS	Norfolk QoL-DN	CADT	Sudoscan LL (µS)	Sudoscan UL (µS)
M #1	F64L	72	75	1	2	GI	47.0	46	20	58	80
M #2	V32R	57	65	2	3b	H, Dys, K, GI	148.00	84	7	30	40
M #3	F64L	69	80	2	3a	H, Dys, GI	76.75	58	13	47	36
M #4	F64L	70	75	2	3a	H, Dys, GI	112.75	98	11	22	23
M #5	V30M	62	66	2	3a	//	65.00	47	17	26	56
M #6	V30M	58	66	2	3a	H, GI	98.00	52	18	31	45
M #7	V30M	64	69	1	2	H	69.50	73	17	31	71
M #8	V30M	64	75	1	1	H, GI	38.50	32	11	80	30
M #9	F64L	51	53	1	1	GI	28.50	18	19	76	73
F #10	F64L	58	60	1	1	//	23.00	13	15	75	79
M #11	F64L	63	70	2	3a	H, Dys, K, GI	77.75	100	15	45	67
F #12	F64L	75	75	1	1	//	2.00	56	13	59	71
M #13	V30M	54	54	1	1	H	12.00	2	20	76	89
F #14	F64L	61	69	1	2	Dys, GI	86.00	78	9	71	73
M #15	A109S	65	78	2	3b	H, Dys, GI	138.50	61	10	18	10
M #16	V30M	56	70	1	2	H, Dys, GI	92.00	46	11	19	24

CADT Compound Autonomic Dysfunction Test, Dys dysautonomia, F female, FAP Familial Amyloid Polyneuropathy, GI gastrointestinal, H heart, K kidney, LL lower limbs, M male, NIS Neuropathy Impairment Score, Norfolk QoL-DN Norfolk Quality of Life-Diabetic Neuropathy questionnaire, PND Polyneuropathy Disability score, TTR Transthyretin, UL upper limbs.

Quick links

Search