47-jähriger Mann mit „pure autonomic failure” und Perniziosa

Anamnese und klinischer Befund: Ein 47 Jahre alter Mann mit vorbekannter und substituierter Perniziosa stellte sich mit einer progredienten Symptomatik bestehend aus einer ausgeprägten orthostatischen Hypotension, Weiß-Sehen, Nackenschmerzen und einer Nykturie vor.

Untersuchungen: Laborchemisch fanden sich hochgradig erniedrigte Konzentrationen der Katecholamine.

Diagnose, Therapie und Verlauf: Ohne weitere nachweisbare zentrale Beteiligung wurde der Patient unter der Verdachtsdiagnose einer „pure autonomic failure” mit Fludrocortison,Yohimbine und Erythropoetin behandelt. Die Symptome orthostatische Dysregulation, Sehstörungen und Nackenschmerzen besserten sich rasch, die Nykturie nicht.

Folgerungen: Die Therapie der „pure autonomic failure” linderte erfolgreich die Symptome. Die Prognose der Erkrankung ist gut.

History and clinical findings: A 47-year-old man with a known and substituted vitamin B12 deficiency presented with increasing symptoms associated with orthostatic hypotension, neck pain and micturitional and visual disturbances.

Clinical and laboratory tests: Catecholamines were strongly reduced in plasma and urine.

Diagnosis, treatment and clinical course:A pure autonomic failure was diagnosed and therapy with fludrocortisone, yohimbine and erythropoetine was started. Symptoms with the exception of micturitional disturbances improved strongly.

Conclusions: Multiple-drug treatment of pure autonomic failure is successful. The prognosis is good.

Literatur

• 1 Arai K, Kato N, Kashiwado K, Hattori T. Pure autonomic failure in association with human alpha-synucleinopathy.  Neurosci Lett. 2000;  296 171-173
• 2 Beitzke M, Pfister P, Fortin J, Skrabal F. Autonomic dysfunction and hemodynamics in vitamin B12 deficiency.  Auton Neurosci. 2002;  97 45-54
• 3 Bleasdale-Barr K M, Mathias C J. Neck and other muscle pains in autonomic failure: their association with orthostatic hypotension.  J R Soc Med. 1998;  91 355-359
• 4 Brodde O E, Anlauf A, Arroyo J, Wagner R, Weber F, Buck K D. Hypersensitivity of adrenergic receptors and blood-pressure response to oral yohimbine in orthostatic hypotension.  New Engl J Med. 1983;  308 1033-1034
• 5 Carvalho M A, van Den Meiracker A H, Boomsma F, Lima M, Freitas J, Feld A J, Falco De Freitas A. Diurnal blood pressure variation in progressive autonomic failure.  Hypertension. 2000;  35 892-897
• 6 Freeman R, Landsberg L. The treatment of orthostatic hypotension with dihydroxyphenylserine.  Clin Neuropharmacol. 1991;  14 296-304
• 7 Fulham M J, Dubinsky R M, Polinsky R J, Brooks R A, Brown R T, Cur M T, Baser S, Hallett M, Di Chiro G. Computed tomography, magnetic resonance imaging and positron emission tomography with (18F) fluorodeoxyglucose in multiple system atrophy and pure autonomic failure.  Clin Auton Res. 1991;  1 27-36
• 8 Furlan R, Piazza S, Bevilacpua M, Turiel M, Norbiato G, Lombardi F, Malliani A. Pure autonomic failure: complex abnormalities in the neural mechanisms regulating the cardiovascular system.  J Auton Nerv Syst. 1995;  51 223-235
• 9 Goldstein D S, Polinsky R J, Garty M, Robertson D, Brown R T, Biaggi I, Stull R, Kopin I J. Patterns of plasma levels of catechols in neurogenic orthostatic hypotension.  Ann Neurol. 1989;  26 558-563
• 10 Grubb B P, Klingenheben T. Syndromes of autonomic insufficiency associated with orthostatic intolerance: classification, diagnostic and therapeutic approach.  Z Kardiol. 1999;  88 541-549
• 11 Hague K, Lento P, Morgello S, Caro S, Kaufmann H. The distribution of Lewy bodies in pure autonomic failure: autopsy findings and review of the literature.  Acta Neuropathologica. 1997;  94 192-196
• 12 Hirayama M, Hakusui S, Koike Y, Ito K, Kato T, Ikeda M, Hasegawa N, Takayashi A. A scintigraphical qualitative analysis of peripheral vascular sympathetic function with meta-(131I)iodobenzylguanidine in neurological patients with autonomic failure.  J Auton Nerv Syst. 1995;  53 230-234
• 13 Hoeldtke R D, Streeten D H. Treatment of orthostatic hypotension with erythropoietin.  N Engl J Med. 1993;  329 611-615
• 14 Jordan J, Shannon J R, Biaggioni I, Norman R, Black B K, Robertson R. Contrasting actions of pressor agents in severe autonomic failure.  Am J Med. 1998;  105 116-124
• 15 Kaufmann H E, Oribe H, Miller M, Knott P, Wiltshire-Clement M, Yahr M D. Hypotension-induced vasopressin release distinguishes between pure autonomic failure and multiple system atrophy with autonomic failue.  Neurology. 1992;  42 590-593
• 16 Kaufmann H, Hague K, Perl D. Accumulation of alpha-synuclein in autonomic nerves in pure autonomic failure.  Neurology. 2001;  56 980-981
• 17 Kimber J R, Watson L, Mathias C J. Distinction of idiopathic parkinsonŽs disease from multiple-system atrophy by stimulation of growth-hormone release with clonidine.  Lancet. 1997;  349 1877-1881
• 18 Layer P, Anlauf M, Köppen S, Donhuijsen K, Kölbel C B, Bock K D. Clinicopathologic conference. Motor insteadiness, vertigo, weight loss and micturition in a 46-year-old female (Shy-Drager-Syndrome or pernicious anemia?).  Med Klinik. 1986;  81 202-207
• 19 Mathias C J, Mallipeddi R, Bleasdale-Barr K. Symptoms associated with orthostatic hypotension in pure autonomic failure and multiple system atrophy.  J Neurol. 1999;  246 893-898
• 20 Oldenburg O, Sack S, Erbel R, Philipp T, Kribben A. Therapie der orthostatischen Hypotonie.  Dtsch Med Wochenschr. 1999;  124 1209-1212
• 21 Perera R L, Isola H, Kaufmann H. Effect of recombinant erythropoietin on anemia and orthostatic hypotension in primary autonomic failure.  Clin Auton Res. 1995;  5 211-213
• 22 Plazzi G, Cortelli P, Montagna P, De Monte A, Corsini R, Contin M, Provini F, Ierangeli G, Lugaresi E. REM sleep behaviour disorder differentiates pure autonomic failure from multiple system atrophy with autonomic failure.  J Neurol Neurosurg Psychiatry. 1998;  64 683-685
• 23 Sakakibara R, Hattori T, Uchiyama T, Asashina M, Yamanashi T. Micturitional disturbances in pure autonomic failure.  Neurology. 2000;  54 499-501
• 24 Smith G D, Alam M, Watson L P, Mathias C J. Effect of the somatostatin analogue, octreotide, on exercise-induced hypotension in human subjects with chronic sympathetic failure.  Clin Sci (Colch). 1995;  89 367-373
• 25 Thomaides T N, Chaudhuri K R, Maule S, Watson L, Marsden C D, Mathias C J. Growth hormone response to clonidine in central and peripheral primary autonomic failure.  Lancet. 1992;  340 263-266
• 26 Thomaides T, Bleasdale-Barr K, Chaudhuri K R, Pavitt D, Marsden C D, Mathias C J. Cardiovascular and hormonal responses to liquid food challenge in idiopathic parkinsonŽs disease, multiple system atrophy, and pure autonomic failure.  Neurology. 1993;  43 900-904
• 27 Titianova E, Karakaneva S, Velchava I. Orthostatic dysregulation in progressive autonomic failure - transcranial Doppler sonography monitoring.  J Neurol Sci. 1997;  146 87-91
• 28 Tranchant C, Guiraud-Chaumeil C, Echaniz-Laguna A, Warter  JM. Is clonidine growth hormone stimulation a good test to differentiate multiple system atrophy from idiopathic ParkinsonŽs disease?.  J Neurol. 2000;  247 853-856
• 29 Zuber M A. Sjögren Syndrom assoziiert mit perniziöser Anämie. Systemische versus organspezifische Autoimmunkrankheit.  Dtsch Med Wochenschr. 2001;  126 273-276