Patients with familial dysautonomia (FD) exhibit orthostatic hypotension as well as recumbent hypertension. In addition, during dysautonomic crises, patients have hypertensive blood pressure that is presumed to be secondary to episodic vasoconstriction, as well as swollen hands that are presumed to be secondary to vasodilatation. This discrepancy in vascular control is poorly understood, yet may provide insight into the pathophysiology of autonomic crises. To evaluate the pathological mechanisms of overall blood flow and end-organ perfusion, we assessed resting and post-ischaemic limb and skin blood flow in FD patients. In groups of 15 FD patients and 15 controls, we measured resting and post-ischaemic forearm blood flow using venous occlusion plethysmography, and superficial skin blood flow using laser Doppler flowmetry. At rest, arterial inflow was averaged from eight venous occlusion measurements and expressed as percentage volume change/min. Post-ischaemic plethysmographic inflow was determined from the peak influx during the first venous occlusion following 3 min of ischaemia. Transcutaneous forearm partial pressures of oxygen and carbon dioxide were monitored continuously. At rest, plethysmographic limb perfusion was lower in FD patients than in controls, while skin blood flow did not differ between the two groups. After ischaemia, hyperperfusion of the forearm and hand was less pronounced in FD patients than in controls, while skin blood flow was significantly higher in patients than in controls. Partial pressures of O2 and CO2 did not differ between the two groups. We conclude that the reduced overall limb perfusion in patients with FD is due to hypertension-induced structural changes to vessel walls, with an increase in resistance vessel rigidity. The exaggerated post-ischaemic skin perfusion in FD patients seems to be due to deficient sympathetic innervation of precapillary vessels and arteriovenous shunts and to denervation hypersensitivity of intradermal small nerve fibres. Both the reduced limb perfusion and the dysfunctional end-organ blood supply in FD patients are likely to be major contributors to the vasomotor instability observed in these subjects, particularly during periods of stress.
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September 2003
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Research Article|
September 01 2003
Terminal vessel hyperperfusion despite organ hypoperfusion in familial dysautonomia
Brigitte STEMPER;
Brigitte STEMPER
*Department of Neurology, New York University, New York, NY, U.S.A.
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Felicia B. AXELROD;
Felicia B. AXELROD
*Department of Neurology, New York University, New York, NY, U.S.A.
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Harald MARTHOL;
Harald MARTHOL
*Department of Neurology, New York University, New York, NY, U.S.A.
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Clive BROWN;
Clive BROWN
†Department of Neurology, University of Erlangen-Nuremberg, Schwabachanlage 6, 91054 Erlangen, Germany
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Miroslav BRYS;
Miroslav BRYS
*Department of Neurology, New York University, New York, NY, U.S.A.
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Goetz WELSCH;
Goetz WELSCH
†Department of Neurology, University of Erlangen-Nuremberg, Schwabachanlage 6, 91054 Erlangen, Germany
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Max J. HILZ
*Department of Neurology, New York University, New York, NY, U.S.A.
Correspondence: Dr Max J. Hilz (e-mail max.hilz@neuro.med.uni-erlangen.de).
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Publisher: Portland Press Ltd
Received:
January 29 2003
Revision Received:
April 16 2003
Accepted:
May 02 2003
Accepted Manuscript online:
May 02 2003
Online ISSN: 1470-8736
Print ISSN: 0143-5221
© 2003 The Biochemical Society
2003
Clin Sci (Lond) (2003) 105 (3): 295–301.
Article history
Received:
January 29 2003
Revision Received:
April 16 2003
Accepted:
May 02 2003
Accepted Manuscript online:
May 02 2003
Citation
Brigitte STEMPER, Felicia B. AXELROD, Harald MARTHOL, Clive BROWN, Miroslav BRYS, Goetz WELSCH, Max J. HILZ; Terminal vessel hyperperfusion despite organ hypoperfusion in familial dysautonomia. Clin Sci (Lond) 1 September 2003; 105 (3): 295–301. doi: https://doi.org/10.1042/CS20030046
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