1: Hemodial Int. 2008 Jan;12(1):34-8.

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

Prabahar MR, Manorajan R, Sathiyakumar D, Soundararajan P, Jayakumar M.

Department of Nephrology, Sri Ramachandra University, Chennai, India.

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.


PMID: 18271838 [PubMed - in process]

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