Orthostatic hypotension in familial amyloid polyneuropathy

Suzuki, Tomokazu; Higa, Sadayoshi; Sakoda, Saburo; Hayashi, Akira; Yamamura, Yûichi; Takaba, Yoshio; Nakajima, Akira

doi:10.1212/wnl.31.10.1323

Cited by 56 publications

(18 citation statements)

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“…Orthostatic hypotension is a common cardiovascular manifestation of autonomic dysfunctions in FAP2 and results from impaired baroreflex and cardiac dysfunctions 43, 44. FAP patients with orthostatic hypotension had low basal plasma norepinephrine levels, which did not increase after postural change 45. Pathological and imaging studies showed neuronal cell loss in sympathetic ganglia and reduction of myocardial MIBG uptake in FAP 30, 46.…”

Section: Discussionmentioning

confidence: 99%

Sudomotor innervation in transthyretin amyloid neuropathy: Pathology and functional correlates

Chao

Huang

Chiang

et al. 2015

Annals of Neurology

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ObjectiveAutonomic neuropathy is a major component of familial amyloid polyneuropathy (FAP) due to mutated transthyretin, with sudomotor failure as a common manifestation. This study aimed to investigate the pathology and clinical significance of sudomotor denervation.MethodsSkin biopsies were performed on the distal leg of FAP patients with a follow‐up duration of 3.8 ± 1.6 years. Sudomotor innervation was stained with 2 markers: protein gene product 9.5 (PGP 9.5), a general neuronal marker, and vasoactive intestinal peptide (VIP), a sudomotor nerve functional marker, followed by quantitation according to sweat gland innervation index (SGII) for PGP 9.5 (SGIIPGP 9.5) and VIP (SGIIVIP).ResultsThere were 28 patients (25 men) with Ala97Ser transthyretin and late onset (59.9 ± 6.0 years) disabling neuropathy. Autonomic symptoms were present in 22 patients (78.6%) at the time of skin biopsy. The SGIIPGP 9.5 and SGIIVIP of FAP patients were significantly lower than those of age‐ and gender‐matched controls. The reduction of SGIIVIP was more severe than that of SGIIPGP 9.5 (p = 0.002). Patients with orthostatic hypotension or absent sympathetic skin response at palms were associated with lower SGIIPGP 9.5 (p = 0.019 and 0.002, respectively). SGIIPGP 9.5 was negatively correlated with the disability grade at the time of skin biopsy (p = 0.004), and was positively correlated with the interval from the time of skin biopsy to the time of wheelchair usage (p = 0.029).InterpretationThis study documented the pathological evidence of sudomotor denervation in FAP. SGIIPGP 9.5 was functionally correlated with autonomic symptoms, autonomic tests, ambulation status, and progression of disability. Ann Neurol 2015;78:272℃283

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Section: Discussionmentioning

confidence: 99%

Sudomotor innervation in transthyretin amyloid neuropathy: Pathology and functional correlates

Chao

Huang

Chiang

et al. 2015

Annals of Neurology

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“…The involvement of autonomic nervous system is striking: constipation, explosive diarrhea, sexual impotence, sphincter impairment, hypohidrosis, orthostatic hypotension, and disordered cardiac conduction. In previous studies, we found that patients with advanced FAP had decreased urinary excretion rates of norepinephrine (NE) (Suzuki et al, 1979) 24 T. Azuma et al and a low level of plasma NE concentration (Suzuki et al, 1981), and that the responsiveness of their blood pressure to infused NE was exaggerated (Suzuki et al, 1980). We suggested that in advanced FAP patients noradrenergic receptors are more sensitive to agonists because NE in the sympathetic nerves is chronically depleted.…”

Section: Introductionmentioning

confidence: 99%

The aortic alpha1-adrenergic receptor in familial amyloidotic polyneuropathy

Azuma

Watanabe

Suzuki

et al. 1988

J. Neural Transmission

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To assess the pathophysiology of the sympathetic nervous system in familial amyloidotic polyneuropathy (FAP), we used 3H-bunazosin to identify and characterize the alpha 1-adrenergic receptor in human aortic membranes. The binding of 3H-bunazosin was rapid, readily reversible, stereospecific, and saturable. The Scatchard analysis described a single class of binding sites with a dissociation constant (KD) of 0.370 +/- 0.035 nM and a maximal binding capacity (Bmax) of 11.8 +/- 1.30 fmol/mg protein in control patients. Competition analysis demonstrated the alpha 1-adrenergic specificity of the 3H-bunazosin binding sites in human aortic membranes. The KD and Bmax of 3H-bunazosin binding in four FAP patients was 0.274 +/- 0.052 nM and 7.79 +/- 0.15 fmol/mg protein, respectively; these values did not differ significantly from those in 14 control patients. An increase in Bmax or affinity of alpha 1-adrenergic receptors may not be the cause for denervation supersensitivity in FAP.

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“…Orthostatic hypotension (OH) is one of the major complications in many neurological disorders such as Parkinson’ disease (PD) [1, 2], multiple system atrophy (MSA) [2, 3], diabetic neuropathy [4, 5], and familial amyloid polyneuropathy (FAP) [6, 7]. Symptoms suggestive of OH range from mild dizziness on standing to syncopal collapse, and potentially at least, to cerebral hypoperfusion, thrombotic stroke, and possibly, myocardial infarction, and so they often restrict these patients’ daily lives [8].…”

Section: Introductionmentioning

confidence: 99%

Carotid Duplex Ultrasonography during Head-Up Tilt in Patients with Orthostatic Hypotension

Hamaguchi

Iwasa²,

Okino³

et al. 2007

Eur Neurol

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Orthostatic hypotension (OH) is defined by evaluating postural blood pressure (BP) change, but the correlation between postural BP decreases and OH-associated symptoms is poor. We examined carotid duplex ultrasonography during HUT in 27 patients with various neurological disorders. Nine patients were diagnosed to have OH, and 4 of them had symptoms associated with OH. Decreased end-diastolic velocity of common carotid artery in symptomatic OH patients (–24.5 ± 4.2 cm/s) was significantly larger than that in asymptomatic OH patients (–11.0 ± 8.0 cm/s; p = 0.0143), despite no significant differences in values and changes of BP between them. This may be useful for predicting the development of OH symptoms.

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Orthostatic hypotension in familial amyloid polyneuropathy

Cited by 56 publications

References 0 publications

Sudomotor innervation in transthyretin amyloid neuropathy: Pathology and functional correlates

Sudomotor innervation in transthyretin amyloid neuropathy: Pathology and functional correlates

The aortic alpha1-adrenergic receptor in familial amyloidotic polyneuropathy

Carotid Duplex Ultrasonography during Head-Up Tilt in Patients with Orthostatic Hypotension

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