dracula's disease - acute intermittent porphyria case report and brief review

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Radical diet revealing Dracul’s disease  Radical diet revealing Dracul’s disease Trevisol-Bittencourt PC 1,2,3 , Tournier MB 1,5, Collares CF 4 , Toma 1 Federal University of Santa Catarina, Florianópolis/SC, Brazil 2 Hospital Santa Teresa, Sao Pedro de Alcântara/SC, Brazil 3 Epilepsy Centre of Santa Catarina, Sao Pedro de Alcântara/SC, Brazil 4 Intoxication Control Center of the Sao Paulo City Hospital, Brazil 5 AACD - Rehabilitation Centre, Sao Paulo/SP, Brazil www.neurologia.ufsc.br  Backgrounds: Acute intermittent porphyria (AIP) is an autossomal dominant disease that results from defects in the enzyme porphobilinogen deaminase (PBG-D). Which speeds the conversion of porphobilinogen to hydroxymethylbilane. In AIP, the porphyrin precursors, porphobilinogen and amino-levulinic acid (ALA), accumulate. The latent form of the disease may exist indefinitely, but certain drugs, infections, and excessive dieting with starvation or low-carbohydrate diets can precipitate it . The most common drugs are sulfonamides and barbiturates (Table 1). In AIP the erythrocytes are prematurely destroyed, it cause erythrodontia, coetaneous photosensitivity (leading to mutilating skin lesions), hemolytic anemia, splenomegaly, and hypertrichosis. The clinical features depends by the accumulation of the ALA in different locations of the body. The predominant problem appears to be neurologic damage that leads to peripheral and autonomic 1 / 5

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Dracula's disease - Acute intermittent porphyria Case Report and Brief Review, explaining main trigger features for Porphyria attacks and the clinical picture of porphyria

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Page 1: Dracula's disease - Acute intermittent porphyria Case Report and Brief Review

Radical diet revealing Dracul’s disease

 

Radical diet revealing Dracul’s diseaseTrevisol-Bittencourt PC 1,2,3 , Tournier MB 1,5, Collares CF 4 , Tomaselli PJ 1 , Câmara R 1 , Bittencourt FS 2

1 Federal University of Santa Catarina, Florianópolis/SC, Brazil 2 Hospital Santa Teresa, Sao Pedro de Alcântara/SC, Brazil  3 Epilepsy Centre of Santa Catarina, Sao Pedro de Alcântara/SC, Brazil4 Intoxication Control Center of the Sao Paulo City Hospital, Brazil 5 AACD - Rehabilitation Centre, Sao Paulo/SP, Brazil www.neurologia.ufsc.br

 

Backgrounds: Acute intermittent porphyria (AIP) is an autossomal dominantdisease that results from defects in the enzyme porphobilinogen deaminase(PBG-D). Which speeds the conversion of porphobilinogen tohydroxymethylbilane. In AIP, the porphyrin precursors, porphobilinogen andamino-levulinic acid (ALA), accumulate. The latent form of the disease may existindefinitely, but certain drugs, infections, and excessive dietingwith starvation or low-carbohydrate diets can precipitate it. The most common drugs are sulfonamides and barbiturates (Table 1). In  AIPthe erythrocytes are prematurely destroyed, it cause erythrodontia, coetaneousphotosensitivity (leading to mutilating skin lesions), hemolytic anemia,splenomegaly, and hypertrichosis. The clinical features depends by theaccumulation of the ALA in different locations of the body. The predominantproblem appears to be neurologic damage that leads to peripheral and autonomic

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Page 2: Dracula's disease - Acute intermittent porphyria Case Report and Brief Review

Radical diet revealing Dracul’s disease

polineuropathies, recurrent abdominal pain, and psychiatric manifestations(depression, irritability, hallucinations, confusion, paranoia, and catatonia). Theneurological dysfunction can involve any portion of the nervous system. It isbelieved that an imbalance in the autonomic innervation's of the gut leads toabdominal pain, cold have peripheral neuropathy too, such as pain in the backand legs or parathesias. Complete flaccid paralysis can develop over a few days.Other autonomic neuropathies that may be seen are sweating, vascular spasm,labile hypertension, and sinus tachycardia. A grave sign is the development ofrespiratory paralysis and in very severe attacks patients are unable to speak,breathe, or swallow. Central nervous dysfunction can be seen as well withhallucinations, seizures, coma, bulbar paralysis, hypothalamic dysfunction, orcerebelar and basal ganglion involvement. The mythological Romanian characterDracul was the most famous sufferer of this disease.

 

Methods: To describe a young woman presenting AIP secondary to radicalprotein based diet.

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Radical diet revealing Dracul’s disease

 

 Case report: OBL, 20 year-old, came to the emergency service due low limbbilateral weakness,  severe abdominal pain, nausea and vomiting. Since a monthbefore she has been visiting emergency rooms from all hospitals in the citycomplaining the same symptoms, and always been treated with administration ofmetoclopramide and hyoscine and a firmly recommendation was  made to hisfather…she must look for psychological assistance. The patient had no history ofpsychiatric illness, sensitivity to the sun, smoking, drinking, or illicit drug use. Buthad started two months before a high-protein-based and low-carbohydrate diet forlosing weight. The clinical examination showed blood pressure 150/100mmHg,cardiac frequency 120 beats per minute. The neurological examination showeduniversal diminished deep reflexes and muscular weakness mainly in theextremities. Auscultation of the abdomen revealed reduced bowel sounds. Shehad emotional lability as well. Her urine presented urobilinogen. Exposed to thelight, the color of the urine became different - port wine urine.Porphobilinogen (PBG) were detected in her urine exam.

 

 Discussion: We described a patient with AIP secondary to radical diet. She hadtypical symptoms of a attack - abdominal pain, polineuropathy and behavioralchanges. She developed a autonomic neuropathy, showed by hypertension andtachycardia on admission. The strong recurrent abdominal pain and the acuteperipheral neuropathy can be misdiagnosed as acute surgical abdomen andGuillain-Barre syndrome respectively. The diagnosis were performed throughclinical and laboratory evidence. This metabolic defect of PBG-D, causesincreased secretion of PBG in her urine. There was an AIP family history; thepatient’s grandfather died by heart disease most probably caused by AIP. Thesesymptoms are triggered by many conditions: starvation or low-carbohydrate diets -a fashion in our society nowadays or illicit drugs and medications includingmetoclopramide and hyoscine and she was using both. Her autonomicmanifestations - hypertension and tachycardia - have been controlled withpropranolol. The nerve regeneration is the rat-limiting factor to improvement ofestablished neuropathy, hematin will have no effect on recovery. Every patient

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Radical diet revealing Dracul’s disease

and their relatives also must be oriented about this condition and to avoid bizarrediets and dangerous drugs as well. Avoiding the risk factors most of peoplesuffering from AIP can get a normal life by properly avoiding. Emphasize theimportance of the risk about using unsafe drugs helps prevent news attacks.However, this is not easy to do nowadays, just because there are a lot of magic drugsoffered by pharmaceutical industries. ...every day.

References:

* Elder GH, Smith SG, Smyth SJ: Laboratory investigation of the porphyrias. AnnClin Biochem; 1990; 27: 395-412.

* Massey EW: Neuropsychiatric manifestations of porphyria. J Clin Psychiatry1980 Jun; 41(6): 208-13.

* Moore MR: The biochemistry of heme synthesis in porphyria and in theporphyrinurias. Clin Dermatol 1998 Mar-Apr; 16(2): 203-23.

* Suarez JI, Cohen ML, Larkin J, et al. Acute intermittent porphyria:clinicopathologic correlation. Report of a case and review of the literature.Neurology 1997;48:1678–84.

* Tishler PV, Woodward B, O'Connor J, Holbrook DA, Seidman LJ, Hallett M,Knighton DJ. High prevalence of intermittent acute porphyria in a psychiatricpatient population. Am J Psychiatry 1985; 142:1430-1436

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Radical diet revealing Dracul’s disease

* Tishler PV. The effect of therapeutic drugs and other pharmacologic agents onactivity of porphobilinogen deaminase, the enzyme that is deficient in intermittentacute porphyria. Life Sci. 1999;65(2):207-14.

* Buranova D, Varsik P, Balaž M, Božek P. Acute intermittent porphyria andsymptoms of the disturbance of the nervous system. Neurologie pro praxi 2001;3(2) :147–152.

* Hahn M, Gildemeister OS, Krauss GL, Pepe JA, Lambrecht RW, Donohne S,Bonkowky HL. Effects of new anticonvulsant medication on porphyrin synthesis incultured liver cells :Potential implications for patients with acute porphyria.Neurology 1997; 49 :97–105.

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