Porphyria refers to a group of rare disorders in which certain enzymes that are necessary for heme production are in short supply. It can be inherited or acquired, and typically causes health problems with your nervous system, skin or both.
Heme is a component of blood and bone marrow hemoglobin and is found in your liver and myoglobin. It is produced via a multiple stepped process for which porphyrins are made during several steps. The series of actions use eight different enzymes. But because one or more may be lacking, the heme production process stalls, causing porphyrin or porphyrin precursors to accumulate. And this accumulation is what causes porphyria symptoms.
Porphyria is classified as either acute or cutaneous. Then it’s grouped according to the lacking enzyme causing porphyrin accumulation. Porphyria cutanea tarda is the most common form of porphyria overall. And acute intermittent porphyria is the most common of the acute kind.
The symptoms of porphyria cutanea tarda are mostly limited to your skin, usually that exposed to sunlight. Commonly blisters develop in these areas. Some other porphyria cutanea tarda symptoms are:
- pruritus
- erythema
- hirusutism
- heat sensation
- skin swelling edema
- skin darkening, thickening
Your blisters heal slowly, often causing scars, pigment changes, milia or alopecia. And after an attack your urine may be red or brown.
Symptoms of acute intermittent porphyria usually cause intermittent abdominal, mental and neurological related attacks. Severe abdominal pain is a prevalent complaint, coupled with some of these other acute intermittent porphyria symptoms:
- fever
- sweating
- insomnia
- palpitations
- tachycardia
- hypertension
- difficulty urinating
- muscle weakness
- nausea & vomiting
- back, arm, leg pain
- severe constipation
- myalgia, paresthesia, paralysis
- peripheral neuropathy ~ mimics Guillain-Barré syndrome
- mental issues ~ seizures, delirium, coma, depression, confusion, hallucinations, paranoia
Acute intermittent porphyria attacks can last for days and sometimes become a very serious health situation because they can lead to severe electrolyte imbalances, hypotension and shock.
Other possible complications of porphyria are:
- gallstones
- dehydration
- liver damage
- hyponatremia
- breathing problems, respiratory failure
- chronic kidney failure ~ dialysis may be required
Some with porphyria causing gene mutations have no symptoms, what is known as latent porphyria.
Your symptoms of porphyria will likely come and go. For some forms, an attack is triggered by factors that boost the heme production process. Some of the triggers believed to cause porphyrin accumulation symptoms are:
- stress
- fasting
- smoking
- infections
- sun exposure
- hemochromatosis
- alcohol consumption
- drugs ~ barbiturates, sulfonamide antibiotics, tranquilizers, oral contraceptives, estrogen hormone therapy
Treatment depends on the type of porphyria you have. Some of the various treatment options are:
- pain medication
- phlebotomy to reduce iron in liver
- propranolol drug ~ controls heartbeat
- activated charcoal ~ absorbs & helps excrete excess porphyrins
- hematin drug ~ stimulates globin & inhibits porphyrin synthesis
- glucose ~ high carbohydrate level helps limit porphyrin production
Basically, you’ll need to avoid any triggers, i.e. no alcohol, no triggering drugs and no sun without sunscreen.