PICTURES IN NEUROLOGY
Familial amyloid polyneuropathy
diagnosed by minor salivary gland
and Shoji Tsuji
School of Medicine, The University of Tokyo, Tokyo, Japan
familial amyloid polyneuropathy, minor salivary gland biopsy, salivary
gland scintigraphy, xerostomia.
A 71-year-old man with a 2-year history of dysesthesia with
a glove-and-stocking-type distribution without family his-
tory for peripheral neuropathies was referred to our hospi-
tal. Symmetrical disturbance of touch and pain sensation
and signs suggesting autonomic dysfunction including fre-
quent urination, impotence, constipation, and orthostatic
hypotension were noted with mild distal muscle weakness.
Given the sensory-dominant peripheral neuropathy,
neuropathy accompanying Sj
ogren’s syndrome was one of
our initial differential diagnoses. Despite negative anti-SS-A
and SS-B antibodies, chewing gum test revealed decreased
salivation. Salivary scintigraphy showed decreased accumu-
lation especially in bilateral parotid glands (Fig. 1a). Minor
salivary gland biopsy then was performed, which revealed
only small amount of lymphocytic inﬁltration. Instead, amy-
loid deposition was detected with lobular acini atrophy
(Fig. 1b-d). Genetic testing revealed c.148G>A (p.V30M)
mutation in the TTR gene conﬁrming the diagnosis of famil-
ial amyloid polyneuropathy (FAP).
Amyloid deposition in salivary glands without oral symp-
toms is reported to be common in FAP.
However, it should
be noted that FAP can also cause symptomatic amyloid
deposition in salivary glands causing decreased salivation
as illustrated in our patient’s scintigraphy and histopathol-
ogy. Although FAP is typically an early-onset familial
disease with autosomal dominant inheritance, FAP can be
late-onset and sporadic without obvious family histories.
This case illustrates that FAP can mimic Sj
and that salivary gland histopathology should be carefully
1 Do Amaral B, Coelho T, Sousa A, Guimar
aes A. Usefulness of
labial salivary gland biopsy in familial amyloid polyneuropathy
Portuguese type. Amyloid 2009; 16: 232–8.
2 Johansson I, Ryberg M, Steen L, Wigren L. Salivary
hypofunction in patients with familial amyloidotic
polyneuropathy. Oral Surg. Oral Med. Oral Pathol. 1992; 74:
Figure 1 (a)
salivary scintigraphy. Planner scan was started
at the same time of the tracer injection. Salivary accumulation is
decreased especially in bilateral parotid glands. (b) Hematoxylin and
eosin stain of minor salivary gland biopsy. Pale eosinophilic deposition
is seen around the excretory duct and lobular acini with lobular acini
atrophy. (c–d) The deposition is red–orange in Congo red stain (c) and
shows apple–green birefringence (d).
Correspondence: Masanori Kurihara, Department of Neurology, University of Tokyo, 7-3-1, Hongo, Bunkyo-ku, Tokyo 113-8655, Japan.
The authors state that they have no conﬂict of interest (COI).
Neurology and Clinical Neuroscience 6 (2018) 67
ª 2018 Japanese Society of Neurology and John Wiley & Sons Australia, Ltd