PORPHYRIA- Overview, Facts, Types, Diagnosis & Medications


Porphyria is also known as Hematoporphyria or porphyrin disorder, a type of disease or disorder that typically forms within the body, commonly within the liver and bone marrow. It happens when there’s a failure to alter one or more of the eight enzymes namely: ALADALAS2CPOXFECHHMBSPPOXUROD, or UROS into a red-coloured compound called heme. The heme contains an iron atom that binds with oxygen, carrying this oxygen from your lungs to other parts of the body and eventually produces hemoglobin(protein) that turns blood to red. One in all the eight enzymes is termed porphyrins, which is where the disease derived its name. The estimated number of people who have the disease ranges from 1 in 500 to 1 in 50,000. It may be acquired or inherited through a defective/abnormal gene from one among your parents or both.


Porphyria has two types according to which part of the body it primarily affects:

  • Acute porphyrias include forms of the disease that primarily affect the nervous system. These are called “acute” because their signs and symptoms appear quickly and frequently last briefly. An individual who has this form of porphyria has an imbalanced level of salt in his/her body.
  • Cutaneous porphyrias on the opposite usually don’t affect one’s systema nervosum, but mostly cause skin problems as a reaction to being exposed to direct sunlight. Porphyria cutanea tarda (PCT), a variety of cutaneous porphyria, is acquired instead of inherited, is that the most typical type out of all the porphyrias.


Symptoms of porphyria vary according to type and among individuals. Some of those who inherited porphyria from their parents may never experience symptoms of the disease while some may experience both systemic and skin symptoms.

The symptoms of acute porphyrias are listed below:

  • Often severe abdominal pain.
  • Nausea, vomiting, constipation, or diarrhea
  • Pain in your chest, legs or back
  • Faster vital sign or irregular heartbeats
  • Higher blood pressure
  • Cramping or muscle weakness
  • Tingling and loss of sensation
  • Brown or red urine

A person who has an acute porphyria might also experience the following:

  • Fever
  • Seizures
  • Anxiety
  • Depression
  • Hallucinations
  • Other mental disorders

As a result, the complications you could get are:

  • Liver cancer
  • Kidney damage
  • Long-term and unbearable pain

While the symptoms for cutaneous porphyrias are mostly evident in someone’s face and therefore, the back of the hands, forearms, neck, and ears are as follows:

  • Sunlight and artificial light sensitivity
  • Blisters
  • Itching or swelling
  • Swelling and painful skin redness
  • Excessive hair growth in affected areas
  • Pigmented colouring


As a cliché, because it is, prevention is healthier than cure. So, if your parents have porphyria, it’s advisable to hunt a genetic counsellor’s advice moreover if you have already got the disease to forestall your children from inheriting within the future. Doctors sometimes find it hard to diagnose if you have got porphyria since the symptoms are like those of other diseases or illnesses. Suppose there’s a clear stage that you may need it, your doctor may order either a complete blood count test if you’re experiencing irregularities in your vital signs, fecalysis if there’s abdominal pain, vomiting, or diarrhea and urinalysis if you have got urination problems. Sometimes the doctor may suggest you undergo all the tests to identify which specific type/form of porphyria you’ve got.


The treatment and medicine also differ between acute and cutaneous porphyrias:

  • For acute porphyrias, the doctor may prescribe Givlaari™ (givosiran), the drug significantly reduces the toxins during an episode/attack of pain, nausea, and vomiting, which generally require hospitalization or medical attention. The doctor may suggest that you take glucose orally or into your veins through an IV. Your doctor may offer you PANHEMATIN® (hemin for injection) an iron-containing porphyrin with chlorine that’s formed from a heme group like heme B found in hemoglobin that provides the blood with its red colour.
  • For cutaneous porphyrias, your treatment might include phlebotomy or the regular removal of your blood to minimize the iron in your liver and low doses of chloroquine or hydroxychloroquine to avoid malaria. Staying out of sunlight or even artificial light and wearing protective clothing while outdoors can prevent triggering the symptoms of the disease.

You can ask for advice from and have a consultation with a dermatologist if it’s skin-related, hematologist if it’s blood-related, hepatologist for liver-related, and as mentioned above, genetic counsellor if you’ve inherited the disease from your parents or you don’t want your child to get diagnosed with it.

Related Articles


Overview and FactsTypes and SymptomsDiagnosis & MedicationsOverview and Facts Otitis externa is a painful ear condition that is commonly associated [...]


Overview and FactsTypes and SymptomsDiagnosis & MedicationsOverview and Facts Necrotizing fasciitis is also known as the flesh-eating disease which is [...]


Overview and FactsTypes and SymptomsDiagnosis & MedicationsOverview and Facts Lap Band Surgery is one of the treatments or procedures that [...]