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

Abstract

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.

Acute intermittent porphyria: A critical diagnosis for favorable outcome

“…Other therapies that have been tried are the use of cimetidine and hemodialysis. [ 15 16 ] Hemodialysis was contraindicated in our patient due to the presence of deep vein thrombosis.…”

Effects of hemin and hemodialysis in a patient with acute intermittent porphyria and renal failure

“…Hemodialysis has also been proposed as an alternative primary treatment of acute attacks in patients without renal failure, but it has not been systematically studied for this treatment indication. [9][10][11][12] It is unknown whether partial removal of porphyrins with hemodialysis will improve symptoms, and the time course of reaccumulation of porphyrins after hemodialysis is unknown as well. Unlike hemin and investigational treatments such as RNA interference that downregulate hepatic ALA synthase-1, 13 hemodialysis removes ALA and PBG from plasma but does not reduce hepatic production of ALA and PBG.…”

Paediatric porphyria and human hemin: a treatment challenge in a lower middle income country

“…Murine models have suggested a role of melatonin in drug-induced porphyria,26 but it is yet to be investigated in humans. Haemodialysis has also been used with and without human hemin to decrease the levels of PBG and ALA in blood 27 28. In some cases where the disease progresses to liver cirrhosis, the only treatment option is liver transplant 20.…”