Acute Intermittent Porphyria (AIP) Symptoms, Diagnosis and Treatments
An Acute Intermittent Porphyria that is due to a deficiency of Hydroxymethylbilane Synthase in the liver, the third enzyme in the 8-enzyme biosynthetic pathway of Heme. Acute Intermittent Porphyria can be precipitated by medications, fasting, smoking, infections, surgery, stress, menstrual hormones, and excessive use of alcohol or exposure to the sun.
These results in the intermittent and acute presentation of the above-mentioned symptoms usually requiring hospitalization are treated using intravenous glucose to maintain adequate carbohydrates levels and achieve rehydration. Medication is known as hematin, if available, is used to convert the excess porphyrins into heme, thus resulting in reduced symptoms. The buildup of porphyrins in the body can also be reduced by phlebotomy (removal of blood from a vein) and the use of activated charcoal which combine with porphyrins and help eliminate them from the body.
While patients can be managed conservatively in the hospital for the acute presentation, there is no long-term cure for this condition. Ayurvedic treatment can be used safely and effectively in the management of porphyria – like conditions. The presenting symptoms in affected individuals are interpreted in the light of Ayurvedic pathophysiology and treated accordingly. Heme originate has shown benefit in reducing the duration of symptoms when compared to safely glucose infusions.
Full body massage and light fomentation and enema using medicated oils are also highly effective in treating as well as preventing acute episodes of this disease. Depending upon the presentation of symptoms, medicines also need to be given to treat and prevent damage to the liver, kidneys as well as the nervous system. Treatment needs to be taken regularly for periods ranging from six months to a year, depending upon the severity of the condition and associated complications.
Once the patient achieves a complete remission of symptoms, medicines can be gradually tapered and then stopped altogether. Overall, most patients need to be monitored for a couple of years in order to prevent further attacks and relapses of the condition. Diet control is very important in preventing or aggravating attacks.
Adequate modification in lifestyle also needs to be strictly implemented. All the known precipitating factors for this condition need to be avoided in order to prevent acute episodes and relapses. Ayurvedic treatment, combined with preventive measures, can thus go a long way in successfully treating acute porphyria as well as managing the medical condition on a long-term basis.
Signs and Symptoms:
Abdominal Pain
Dark Urine
Constipation
Nausea, vomiting
Psychosis
Hypertension
Hyponatremia
Back Pain
Sensory Neuropathy
Seizures
Chest Pain
Coma
Differential diagnosis of acute porphyrias is:
- Acute Psychosis
- Acute Abdomen
- DKA
- Hypertensive Crisis
- Guillain Barre Syndrome
Clinical Features:
- Typically post-pubertal, peak age in the third decade of life
- 4-5 X more common in women than in men
- Only 10-15% of gene carriers will manifest clinical signs or symptoms of an acute porphyria attack
- 2/3 of patients will have a family history of a porphyria
- Less than 10% will have recurrent attacks
Diagnosis:
- PBG semi-quantitive assays
- Fresh urine sample in a light-protected container
- PBG levels will be 5-10x normal within a week of an acute crisis
- Can rule out AIP, VP, and HCP with a negative PBG
- ALA-D will not produce elevated PBG; will need specialist input
- Ideally, a light protected sample of EDTA blood and the fecal sample should be obtained for further biochemical analysis