Small‐fiber neuropathy with cardiac denervation in postural tachycardia syndrome

Haensch, Carl-Albrecht; Tosch, Marco; Katona, István; Weis, Joachim; Isenmann, Stefan

doi:10.1002/mus.24245

Cited by 59 publications

(27 citation statements)

References 48 publications

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“…Our patient has abnormal sudomotor function and complaints of anhidrosis, suggesting abnormal sympathetic post-ganglionic activity. In addition, the presence of orthostatic tachycardia suggests dysfunction of the small fiber sympathetic nervous system [20]. Altogether the presentation of pain in the distal extremities with abnormal post-ganglionic sympathetic activity suggests that small, unmyelinated nerve fibers are dysfunctional in this patient.…”

Section: Discussionmentioning

confidence: 99%

Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat

Kats

Bott

Rinaldi

et al. 2014

Neuromuscular Disorders

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Spinal and bulbar muscular atrophy (SBMA) is an X-linked neuromuscular disease caused by a trinucleotide (CAG) repeat expansion in the androgen receptor gene. Patients with SBMA have weakness, atrophy, and fasciculations in the bulbar and extremity muscles. Individuals with CAG repeat lengths greater than 62 have not previously been reported. We evaluated a 29 year old SBMA patient with 68 CAGs who had unusually early onset and findings not seen in others with the disease. Analysis of the androgen receptor gene confirmed the repeat length of 68 CAGs in both peripheral blood and fibroblasts. Evaluation of muscle and sensory function showed deficits typical of SBMA, and in addition the patient had manifestations of autonomic dysfunction and abnormal sexual development. These findings extend the known phenotype associated with SBMA and shed new insight into the effects of the mutated androgen receptor.

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Section: Discussionmentioning

confidence: 99%

Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat

Kats

Bott

Rinaldi

et al. 2014

Neuromuscular Disorders

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“…Reduced myocardial meta-iodobenzylguanidine uptake indicating reduced cardiac sympathetic neuronal uptake function has been reported in 20% of patients with POTS, suggesting that cardiac sympathetic denervation may be present in this condition (Haensch et al, 2010). More recently it was also demonstrated that reduced myocardial meta-iodobenzylguanidine uptake correlated with the density of sympathetic and somatic C-fiber innervation measured from skin biopsies and suggested that loss of distal sympathetic innervation may produce an exaggerated sympathetic response in innervated tissues such as the heart, resulting in tachycardia (Haensch et al, 2014). …”

Section: Sympathetic Denervation May Be Associated With Potsmentioning

confidence: 99%

Sympathetic dysfunction in vasovagal syncope and the postural orthostatic tachycardia syndrome

Lambert

2014

Front. Physiol.

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Orthostatic intolerance is the inability to tolerate the upright posture and is relieved by recumbence. It most commonly affects young women and has a major impact on quality of life and psychosocial well-being. Several forms of orthostatic intolerance have been described. The most common one is the recurrent vasovagal syncope (VVS) phenotype which presents as a transient and abrupt loss of consciousness and postural tone that is followed by rapid recovery. Another common type of orthostatic intolerance is the postural orthostatic tachycardia syndrome (POTS) which is characterized by an excessive rise in heart rate upon standing and is associated with symptoms of presyncope such as light-headedness, fatigue, palpitations, and nausea. Maintenance of arterial pressure under condition of reduced central blood volume during the orthostasis is accomplished in large part through sympathetic efferent nerve traffic to the peripheral vasculature. Therefore sympathetic nervous system (SNS) dysfunction is high on the list of possible contributors to the pathophysiology of orthostatic intolerance. Investigations into the role of the SNS in orthostatic intolerance have yielded mixed results. This review outlines the current knowledge of the function of the SNS in both VVS and POTS.

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“…However, these figures do not fully capture patients with small-fiber polyneuropathy (SFPN), although it is the most common presentation of distal polyneuropathy. Multiple labs now report evidence of SFPN in about 40% of patients with fibromyalgia [11, 21, 26]. Since fibromyalgia affects 2-5% of the world’s population [17, 28], SFPN may affect millions.…”

Section: Introductionmentioning

confidence: 99%

“…The cardiovascular, gastrointestinal, microvascular and/or sweating symptoms can reflect either autonomic or somatic axonopathy since many internal organs and tissues have dual small-fiber innervation [1]. Neurogenic dysregulation of the microvessels alone causes a wide array of symptoms including postural orthostatic tachycardia syndrome [11] fatigue, and even cognitive dysfunction [22]. …”

Section: Introductionmentioning

confidence: 99%

Initial Development and Validation of a Patient-Reported Symptom Survey for Small-Fiber Polyneuropathy

Treister

Lodahl

Lang

et al. 2017

The Journal of Pain

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Small-fiber polyneuropathy SFPN affects unmyelinated and thinly myelinated peripheral axons. Several questionnaires have been developed to assess polyneuropathy from diabeties or chemotherapy, but none for SFPN from other or unknown causes. A comprehensive survey could help clinicians diagnose and assess treatment responses, define prevalence natural history and cures, and identify research subjects. Thus, we developed the one-page Small-fiber Symptom Survey (SSS), using input from patients and 21 medical/scientific experts. Participants comprised consenting consecutive patients evaluated for SFPN at the Massachusetts General Hospital plus normal controls. Participants SFPN status was stratified based on the results of their objective diagnostic tests (distal-leg skin biopsy and autonomic-function testing). We measured internal consistency, test re-test reliability, convergent validity and performed a receiver operating curve analysis. The 179 participants averaged 46.6±15.6 years old; they were 73.2% female and 92.2% Caucasian. Eighty-five had confirmed SFPN, mostly idiopathic. Principal component analysis revealed 5 symptom clusters. The questionnaire had good internal consistency (Cronbach alpha=0.893), excellent test re-test reliability (r=0.927, p<0.001) and good-to-fair convergent validity. Participants with confirmed SFPN had more severe symptoms than others (p=0.009). The SSS has satisfactory psychometric properties, indicating potential future utility for surveying patient-reported symptoms of SFPN regardless of its cause. Perspective This article reports the initial development and early psychometric validation of a new patient-reported outcome measure intended to capture the wide range of multi-system symptoms of small fiber polyneuropathy. Once further developed, it could potentially help clinicians diagnose and monitor patients, and help advance research.

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Small‐fiber neuropathy with cardiac denervation in postural tachycardia syndrome

Abstract: A subset of neuropathic POTS patients may harbor mild small fiber neuropathy with abnormalities of unmyelinated nerve fibers in the skin associated with reduced myocardial postganglionic sympathetic innervation.

Cited by 59 publications

References 48 publications

Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat

Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat

Sympathetic dysfunction in vasovagal syncope and the postural orthostatic tachycardia syndrome

Initial Development and Validation of a Patient-Reported Symptom Survey for Small-Fiber Polyneuropathy

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