Treatment Options 

The Importance of Carbohydrates & Glucose

Firstly there is no CURE for Porphyria!!!

The obvious choice is to avoid potential triggers however not all triggers are easily identifiable, patients also react very differently to many of the triggers. 

The first choice of treatment in management of the acute porphyrias, namely Acute Intermittent Porphyria {AIP), Hereditary Coproporphyria [HCP], Variegate Porphyria [VP] and ALAD Porphyria [ADP] initially is the administration of carbohydrates and glucose.

This treatment is purported to decrease porphyrin biosynthesis in the liver. Glucose has the ability to diminish excess excretion of heme precursors, which in turn prevent or reduce the recovery time / severity of the acute Porphyric attack.

In severe cases patients may require glucose to be administered intravenously, this is done in the hospital or emergency unit, typical dosage is saline with five percent dextrose. 

Patients must be aware of the effects of taking unsafe pharmaceutical drugs, including natural alternatives. Always conduct a thorough investigation of the ingredients and when in doubt rather do not ingest or contact your physician for assistance.

Understanding the importance of consuming carbohydrates to supress an attack is vital. Follow a nutritious diet consisting of good carbohydrates, do not skip meals and do not follow any low calorie diets or fasting.

Treatment Options Endorsed By Porphyria SA 

Analgesia

Pain of the acute attack is very severe, requiring the administration of high doses of opiate analgesics. Pethidine in doses of 50, 75 or 100mg is recommended by the South African Porphyria Unit at UCT and should be given hourly, 2-hourly or 4-hourly.  

The pain can re-occur after several hours requiring more pethidine.

Fluid therapy

Most patients are dehydrated as a result of nausea, vomiting, poor fluid intake and renal dysfunction. They are also at risk of severe hyponatraemia. They should therefore not receive intravenous dextrose alone. The recommended fluid is normal saline with five percent dextrose.

Specific therapy

The only uniformly effective therapy is haem arginate. This is highly effective in aborting the acute attack, but requires some effort to obtain and is expensive.

 

Hypertension and tachycardia

These are usually mild and require no specific therapy. If necessary, a non-specific beta blocker such as propranolol is efficacious. In the rare patient with a severe adrenergic crisis, treatment with intravenous magnesium sulphate and combined alpha- and beta-adrenergic blockade may be helpful.

Seizures

These are occasionally due to the porphyria itself, but are often secondary to hyponatraemia. Seizures may also arise in response to large doses of intravenous pethidine, and are often preceded by myoclonic jerks. Seizures should be terminated with intravenous clonazepam 1 mg or diazepam 5-10 mg; clonazepam 0.5 mg bd will prevent further seizures.

Psychosis

True psychosis in response to the acute attack is rare. Phenothiazines such as chlorpromazine are suitable for its control.

Hyponatraemia

Mild degrees of hyponatraemia are treated with intravenous infusions of normal saline. Severe hyponatraemia, particularly if accompanied by confusion or seizures, should be partially corrected with hypertonic saline, taking the usual precautions to prevent over-correction and too-rapid correction. Severe hyponatraemia appears to result from excessive renal sodium losses rather from inappropriate ADH secretion, and fluid restriction is therefore inappropriate.

Paralysis

If haem arginate / Normasang has not already been commenced, it must be administered as an absolute emergency. The patient should be carefully monitored for the onset of respiratory weakness, preferably in an intensive care unit. Any suggestion of respiratory insufficiency requires immediate intubation and positive pressure ventilation. The motor neuropathy of porphyria is fully reversible. However, as with any other axonal neuropathy, recovery is slow. Ventilation may have to be continued for up to 16 weeks and full recovery may require many months. It is always worthwhile to continue with ventilation, as eventual recovery can be expected.

 

Information source - http://www.porphyria-professionals.uct.ac.za/ppb/acute-symptoms/maa