Possible effectiveness of plasmapheresis on the neurological complications in a case of acute intermittent porphyria

Sità, D.; Maurri, S.; Groppi, C.; Barontini, F

doi:10.1007/bf02043962

Cited by 6 publications

(8 citation statements)

References 14 publications

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“…Obviously, treatable causes of seizure, such as severe hyponatremia or hypomagnesemia, should be sought and cor rected. For patients whose seizures are appar ently due to acute porphyria per se, treatment with bromides, IM or rectal paraldehyde has been recommended [26], Plasmapheresis has been tried with success [73], Carbamazepine and valproic acid may be used with care later. Maintenance of fluid and electrolyte balance (possible fluid restriction) is vital.…”

Section: Management and Treatmentmentioning

confidence: 99%

Porphyria: Reexamination of Psychiatric Implications

Burgoyne¹,

Swartz²,

Ananth³

1995

Psychother Psychosom

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Acute intermittent porphyria mimics a variety of commonly occurring disorders and thus poses a diagnostic quagmire. Psychiatric manifestations include hysteria, anxiety, depression, phobias, psychosis, organic disorders, agitation, delirium, and altered consciousness ranging from somnolence to coma. Some patients develop psychosis similar to schizophrenia. Psychiatric hospitals have a disproportionate number of patients with this disorder as only difficult and resistant patients accumulate there. Presence of photosensitive porphyrins in the urine is diagnostic. When porphyrins are absent, excess of alpha aminolevulinic acid and porphobilinogen are present in the urine. The definitive test is to measure monopyrrole porphobilinogen deaminase in RBCs. This diagnosis should be entertained in the following situations: (a) unexplained leukocytosis; (b) unexplained neuropathy; (c) etiologically obscure neurosis or psychosis; (d) ‘idiopathic’ seizure disorder; (e) unexplained abdominal pain; (f) conversion hysteria, and (g) susceptibility to stress. Porphyria is important in psychiatry as it may present with only psychiatric symptoms; it may masquerade as a psychosis and the patient may be treated as a schizophrenic person for years; the only manifestation may be histrionic personality disorder which may not receive much attention. Diagnosis is based on a high index of suspicion and appropriate investigation. Various psychotropic drugs exacerbate acute attacks. While it is important not to use the unsafe drugs in porphyric patients, it is also imperative to look for this diagnosis in cases where these drugs produce unprecedented drug reactions.

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Section: Management and Treatmentmentioning

confidence: 99%

Porphyria: Reexamination of Psychiatric Implications

Burgoyne¹,

Swartz²,

Ananth³

1995

Psychother Psychosom

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“…This is an extremely vulnerable clinical condition in which the development of severe neuropathic complications is very likely. Even though dialysis membranes are able to clear porphyrin precursors [6], [11], [31], [32], ALA and PBG accumulate during the inter-dialysis period and may be responsible for the progression of nerve damage. Increased PBG is nonenzymatically polymerized to uroporphyrin I, a molecule that is not cleared by dialysis leading to accumulation of serum porphyrins and consequently to photosensitivity skin damage [11].…”

Section: Discussionmentioning

confidence: 99%

Renal Failure Affects the Enzymatic Activities of the Three First Steps in Hepatic Heme Biosynthesis in the Acute Intermittent Porphyria Mouse

et al. 2012

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Chronic kidney disease is a long-term complication in acute intermittent porphyria (AIP). The pathophysiological significance of hepatic overproduction of the porphyrin precursors aminolevulinate acid (ALA) and porphobilinogen (PBG) in chronic kidney disease is unclear. We have investigated the effect of repetitive acute attacks on renal function and the effect of total or five-sixth nephrectomy causing renal insufficiency on hepatic heme synthesis in the porphobilinogen deaminase (PBGD)-deficient (AIP) mouse. Phenobarbital challenge in the AIP-mice increased urinary porphyrin precursor excretion. Successive attacks throughout 14 weeks led to minor renal lesions with no impact on renal function. In the liver of wild type and AIP mice, 5/6 nephrectomy enhanced transcription of the first and rate-limiting ALA synthase. As a consequence, urinary PBG excretion increased in AIP mice. The PBG/ALA ratio increased from 1 in sham operated AIP animals to over 5 (males) and over 13 (females) in the 5/6 nephrectomized mice. Total nephrectomy caused a rapid decrease in PBGD activity without changes in enzyme protein level in the AIP mice but not in the wild type animals. In conclusion, high concentration of porphyrin precursors had little impact on renal function. However, progressive renal insufficiency aggravates porphyria attacks and increases the PBG/ALA ratio, which should be considered a warning sign for potentially life-threatening impairment in AIP patients with signs of renal failure.

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“…In clinical attacks, there is an accumulation of the porphyrin precursors aminolaevulinic acid and PBG, which are formed before the block, appear in the blood, and are excreted in the urine. 10 Hence, we have valid reasons to believe that the dialysis process aided the recovery of the patient. Charcoal hemoperfusion and hemodialysis have been advocated as potential means of removing aminolaevulinic acid.…”

Section: Discussionmentioning

confidence: 99%

“…3 Acute intermittent prophyria (AIP) is an autosomal dominant disease that results from a defect in enzyme porphobilinogen deaminase (PBGD). [7][8][9][10][11] Herein, we report our experience in treating a patient with acute prophyria with hemodialysis and later with hematin infusion. Motor weakness is a major feature of an acute attack in 60% of the cases and flaccid paralysis of all extremities can occur rapidly, within a matter of days.…”

Section: Introductionmentioning

confidence: 99%

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Hemodialysis: A therapeutic option for severe attacks of acute intermittent porphyria in developing countries

Prabahar

Rajendran²,

Sathiyakumar³

et al. 2008

Hemodialysis International

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Acute intermittent prophyria (AIP) is an autosomal dominant disease that results from a defect in the enzyme porphobilinogen deaminase. Acute intermittent porphyria is the most common of hepatic porphyrias and can tax the therapeutic capabilities of the physician to the limit. Motor weakness is a major feature of an acute attack, and flaccid paralysis of all extremities can occur rapidly, within a matter of days. The acute attacks may be life threatening. Hematin (Heme Arginate) should be given early during an acute attack to prevent neurologic sequel. Hemodialysis and hemoperfusion have been tried in the treatment of acute attacks of AIP with success. As hematin is not available in India, a severe acute attack of AIP in a patient was managed with hemodialysis successfully. Later, hematin was imported and provided to the patient. An 18-year-old girl was admitted to our hospital with recurrent abdominal pain and 2 episodes of convulsions. She had undergone an appendectomy earlier at another hospital for abdominal pain. On evaluation, she had hyponatremia, episodic abnormal behavior, generalized muscle pain, hypertension, and sinus tachycardia. In view of the above clinical picture, a clinical diagnosis of acute intermittent porphyria was made. Her 24-hr urinary porphobilinogen was 90.8 mg/day (<2 mg-normal) and alpha amino levalunic acid was 108.8 mg/day (1-7 mg-normal), consistent with the diagnosis. Her hyponatremia was corrected. Arrangements were made to import hematin and she was managed with dextrose infusion. Meanwhile, she developed flaccid quardriparesis with urinary incontinence and bulbar palsy. Her brain MRI was normal. Her nerve conduction study was suggestive of motor radiculoneuropathy. Specific treatment for severe porphyric crisis was planned. She failed to improve with dextrose infusion alone. As hematin was not readily available in the country, other therapeutic options were considered. As few case reports of AIP being successfully treated with hemodialysis were available, the option of dialytic support was explained to the family. After procuring informed consent, she was subjected to hemodialysis for 4 hr in the first day, increasing to 6 hr a day for the next 6 days. Her abdominal pain and myalgia subsided on the third day of dialysis. Her lower limb muscle power improved and she became ambulant by the fourth day. Urinary retention improved within 4 days. Hematin was imported by then from the United States. Later, 2 doses of hematin (4 mg/kg-160 mg in 20% albumin) were given via a central vein. She was maintained on physiotherapy. Repeat nerve conduction study revealed recovery. She has been provided with a list of drugs that have to be avoided. Currently, she is on outpatient follow-up with occasional abdominal pain, which subsides with intravenous dextrose therapy.

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Possible effectiveness of plasmapheresis on the neurological complications in a case of acute intermittent porphyria

Cited by 6 publications

References 14 publications

Porphyria: Reexamination of Psychiatric Implications

Porphyria: Reexamination of Psychiatric Implications

Renal Failure Affects the Enzymatic Activities of the Three First Steps in Hepatic Heme Biosynthesis in the Acute Intermittent Porphyria Mouse

Hemodialysis: A therapeutic option for severe attacks of acute intermittent porphyria in developing countries

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