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Porphyria

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Porphyria is a rare genetic disorder that is passed on to family members. The characteristic disorders result from too much accumulation of the chemical porphyrin, which significantly affects your skin, nervous system and other organs of the body.

 

Types and Symptoms of porphyria

Cutaneous porphyria- As the name suggests, your skin in affected on exposure to sunlight. It gets detected in infants and children. The characteristic symptoms are:

  • Sensitivity to light
  •  Skin rashes, blisters, scarring of the skin
  •  Red, swollen and itchy skin
  •  Brown urine
  •  Dense hair growth

  
Acute porphyria – It happens suddenly and affects your nervous system, lasting from days to weeks. Acute porphyria rarely occurs before puberty. The symptoms are:

  •  Mental disorders
  •  Swelling and pain in abdomen  
  •  Chest pain, palpitations
  •  Muscle weakness and pain
  •  Seizures and anxiety
  •  Difficulty in breathing
  •  Brown urine



Causes of porphyria

As said above porphyria a genetic disorder. The mutation is present in the gene that is involved in production of porphyrin which is a type of heme.  


Heme is the key component of haemoglobin responsible for the red colour of your blood and transportation of oxygen throughout your body. Synthesis of heme takes place in your bone marrow and liver and is assisted by 8 different enzymes. If any of these enzymes is defective or is absent in your body then it leads to accumulation of porphyrin.


Some triggers for porphyria are infections like hepatitis C and HIV, smoking, overdose of iron, alcoholism, smoking, menstrual hormones, exposure to sun, stress, chronic fasting, birth control pills, psychoactive drugs, etc.


Complications of porphyria

Some noted complications of porphyria include dehydration, kidney failure, liver damage, hypertension, and skin damage. 

 
Diagnosis of porphyria

Diagnosing porphyria is complicated because the symptoms resemble many other disorders. However, your doctor would evaluate the symptoms and check for family history of porphyria.


Diagnostic tests for porphyria are:

  • The primary test is a urine test for porphobilinogen (PBG), which is a precursor of porphyrin as well as for measurement of some other chemicals involved in production of heme. General urinalysis would also be advised
  •  Blood test would be recommended to measure the activity of enzymes and it is especially done in case of cutaneous porphyria
  •  Increased levels of porphyria can also be detected from stool samples
  •  Other tests include complete metabolic profile, abdominal ultrasound and symptom specific diagnostic tests


Treatment of porphyria

Acute episode of porphyria can require hospitalization and might take significant time to cure. The treatment involves stopping the medicines that have triggered the disease and lowering porphyrin in the body through hemin injections. Additionally, other associated symptoms like pain, nausea, diarrhoea, etc. will be managed by medicines and intravenous glucose and fluid therapies.

In case of cutaneous porphyrias, your doctor would first advise to you stop exposing yourself to the sunlight. It is managed with malarial drugs as they have the potential to absorb porphyrin. You have to undergo regular phlebotomies which involve removing blood from your body to reduce porphyrin levels. You might also be prescribed supplements of beta carotene and vitamin D.


Preventive measures for porphyria

Porphyria is often latent and asymptomatic. It can get triggered by the conditions and factors we have described above. Therefore, if it runs in your family then you must get yourself screened and then understand the disease and avoid the triggers to proof yourself from the attack.


Written by: healthplus24.com team
Date last updated: June 13, 2014