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Acute Hepatic Porphyria Details

Expanded Description

Acute Hepatic Porphyria is a rare form of Porphyria characterized by an enzyme deficiency in the liver.

Prevalence

8.0 ( Per 100,000 Population ) [Source]

Causes

Genetic basis

Disorder Symptoms

Triggers: Medication — many meds are unsafe; menstruation; malnutrition; maladies

Neruo/psycho/physical combo symptoms including any combination of:

nausea; vomiting; constipation or diarrhea; numbness and/or tingling; cardiac arrhythmias and tachycardia; respiratory distress sometimes moving rapidly to respiratory insufficiency; seizures/convulsions; paralysis; agitation; disorientation; lymphocytic inflammation; depression and/or personality changes; confusion during attack; difficult remembering details; bizarre behavior; mental disturbances incl. hallucinations, mania, anxiety, paranoia; severe pain in abdomen, progressing to back and/or thighs; severe gastrointestinal/liver/kidney/uterine pain; acute neuropathy; central nerve paralysis; coma

We don't have any symptoms yet.

Diagnosis

Single best definitive answer:
Mt. Sinai genetic testing lab, NY

Diagnostic Tests

Blood, urine, stool samples testing for porphyrins.

Questionable for childhood-onset.

We don't have any tests yet.

Disorder Treatments

Panhematin infusions for acute attack
Glucose (10% dextrose for minor attacks) helps to remove excess porphyrins

We don't have any treatments yet.

Prognosis

No prognosis information has been added yet

Tips for Living with the Disorder

We don't have any tips yet.