Enlarged cross-sectional area in peripheral nerves in Swedish patients with hereditary V30M transthyretin amyloidosis

Figures & data

Table 1. Descriptive data, and disease duration in 13 ATTRv patients (all with a V30M gene mutation, 11 with positive amyloid biopsy finding, two with positive ^aDPD-scintigraphy).

Age	Gender	Duration (month)	Fibril type	Symptoms	Height (cm)	Weight (kg)
30	M	12	B	Numbness, tingling feet.	182	75.9
39	M	8	B	Numbness, tingling feet.	189	100
55	M	34	A	Numbness, tingling feet and hands.	178	111
56^a	F	3	—	Tingling and numbness in feet	170	60.8
63	M	8	A	Numbness, tingling feet and hands.	182	70.4
64	F	2	B	Kidney failure.	165	68.5
66	F	21	B	Numbness, tingling feet. Alternating diarrhea/constipation.	169	78.5
68	M	2	A	Dyspnoea	183	108
70	M	84	B	Numbness and tingling feet and fingers. Kidney failure.	180	88
73	M	16	A	Numbness, tingling feet.	177	82
75^a	M	13	—	Tingling feet, obstipation, dyspnea.	188	110
78	M	38	A	Tingling and numbness in feet and hands. Balance difficulties.	173	80
87	M	7	B	Balance difficulties.	180	80.6

^aDPD (3,3-diphosphono-1,2-propanodicarboxylic acid).

Figure 1. Ultrasound images in a patient with hereditary transthyretin amyloidosis (A) of the median nerve at the wrist, proximal to the carpal tunnel, (B) of the sural nerve, and in a healthy control (C) of the median nerve at the wrist, proximal to the carpal tunnel, (D) of the sural nerve. Arrows showing the cross-section area (CSA) mm².

Table 2. Age, gender, disease symptom duration, fibril type, and summary of nerve conduction findings in 13 patients with confirmed hereditary transthyretin amyloidosis.

Age	Gender	Duration (month)	Fibril type	PNP	CTS
30	M	12	B	0	0
39	M	8	B	0	0
55	M	34	A	0	0
56	F	3	—	0	0
63	M	8	A	0	1 (L + R)
64	F	2	B	0	0
66	F	21	B	1	0
68	M	2	A	0	1 (L + R)
70	M	84	B	1	0
73	M	16	A	1	0
75	M	13	—	2	1 (R)
78	M	38	A	2	2 (L)
87	M	7	B	2	2 (L + R)

CTS: carpal tunnel syndrome; PNP: polyneuropathy.

0 = normal findings, 1 = mild, 2 = moderate, 3 = severe, L: left side, R: right side.

Figure 2. Boxplots showing cross-sectional areas (CSA) between 13 patients with hereditary transthyretin amyloidosis (ATTRv) and 14 healthy controls. The box shows median and percentage between 25 and 75. The whiskers showing the 95- percentage confidence interval (numbers indicating CSA data outside the 95% confidence interval). (A) CSA at the tibial nerve at the ankle, (B) CSA at the sural nerve, (C) CSA of the ulnar nerve (middle of the upper arm), and (D) Merged CSA = median CSA from the: tibial nerve at the ankle + sural nerve + peroneal nerve at popliteal fossa + median nerve at the wrist + ulnar nerve at the medial epicondyle.

Table 3. Ultrasound cross-sectional area data (mean, range) at 11 nerve sites, in 13 patients with hereditary transthyretin amyloidosis (ATTRv) and 14 controls.

Nerve sites	ATTRv mm^2	p-values	Controls^a mm^2
Median nerve at wrist	10.7 (5.5 − 20.5)^a	.275	9.7 (6.1 − 15.7)
Median nerve at forearm	6.6 (3.4 − 11.5)^a	.242	6.1 (4.3 − 9.7)
Median nerve at elbow	7.7 (4.4 − 15.2)^a	.063	6.9 (4.4 − 10.8)
Median nerve at upper arm	8.9 (5.1 − 16.1)^a	.456	8.0 (4.6 − 12.9)
Ulnar nerve at wrist	4.4 (2.3 − 7.0)^a	.959	4.4 (2.8 − 6.0)
Ulnar nerve at forearm	5.6 (3.3 − 9.1)^a	.163	5.0 (4.0 − 6.3)
Ulnar nerve at medial epicondyle	8.7 (4.2 − 22.4)^a	.096	7.6 (4.8 − 13.8)
Ulnar nerve at upper arm	6.4 (3.71 − 10.3)^a	.004	5.2 (3.5 − 7.5)
Peroneal nerve at popliteal fossa	6.7 (4.3 − 11.7)^b	.003	5.3 (3.4 − 7.5)
Tibial nerve at the ankle	11.6 (6.2 − 18.0)^b	.001	8.7 (6.1 − 13.9)
Sural nerve	2.5 (1.3 − 3.8)^c	<.001	1.8 (0.8 − 2.6)

Total number of the 11 bilaterally measured nerve sites (left + right); number = ^a22, ^b20, ^c17.

Figure 3. Boxplots showing cross-section areas (CSA) at the median nerve (wrist) between patients with late onset hereditary transthyretin amyloidosis (ATTRv), having fibril-type A and type B. The box shows median and percentage between 25 and 75. The whiskers showing the 95% confidence interval (numbers indicating CSA data outside the 95% confidence interval).

Figure 4. Boxplots showing differences with PNP scoring and (A) disease duration, (B) age of the patient, (C) CTS scoring and CSA at the median nerve at the wrist (MEDw), and (D) age of the patient. The box shows median and percentage between 25 and 75. The whiskers showing the 95% confidence interval (numbers indicating CSA data outside the 95% confidence interval).

Data availability statement

Data available on request due to privacy/ethical restrictions.