A group of genetic or acquired metabolic disorders characterized by defects in the enzymes that are involved in the heme synthesis

Symptoms of Porphyrias

The following features are indicative of Porphyrias:
  • abdominal pain
  • abnormal urinary color
  • abnormal blistering of the skin
  • skin pigmentation
  • numbness
  • vomiting
  • constipation
  • intellectual disability
It is possible that Porphyrias shows no physical symptoms and still is present in a patient.

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Common Causes of Porphyrias

The following are the most common causes of Porphyrias:
  • deficiency of 5-aminolevulinate dehydratase enzyme
  • mutations in one of the ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, or UROS genes

Risk Factors for Porphyrias

The following factors may increase the likelihood of Porphyrias:
  • exposure to sunlight
  • recreational drugs
  • smoking
  • dieting
  • physical stress
  • emotional stress
  • alcohol use

Prevention of Porphyrias

Yes, it may be possible to prevent Porphyrias. Prevention may be possible by doing the following:
  • genetic counseling

Occurrence of Porphyrias

Number of Cases

The following are the number of Porphyrias cases seen each year worldwide:
  • Rare between 10K - 50K cases

Common Age Group

Porphyrias most commonly occurs in the following age group:
  • Aged between 20-50 years

Common Gender

Porphyrias can occur in any gender.

Lab Tests and Procedures for Diagnosis of Porphyrias

The following lab tests and procedures are used to detect Porphyrias:
  • Genetic testing: To diagnose porphyria disease

Doctor for Diagnosis of Porphyrias

Patients should visit the following specialists if they have symptoms of Porphyrias:
  • Endocrinologist

Complications of Porphyrias if untreated

Yes, Porphyrias causes complications if it is not treated. Below is the list of complications and problems that may arise if Porphyrias is left untreated:
  • chronic pain
  • chronic kidney failure
  • liver damage
  • permanent skin damage

Procedures for Treatment of Porphyrias

The following procedures are used to treat Porphyrias:
  • Phlebotomy: To treat porphyria

Self-care for Porphyrias

The following self-care actions or lifestyle changes may help in the treatment or management of Porphyrias:
  • don't smoke
  • avoid alcohol consumption
  • take steps to reduce emotional stress
  • minimize sun exposure

Alternative Medicine for Treatment of Porphyrias

The following alternate medicine and therapies are known to help in the treatment or management of Porphyrias:
  • Use dietary supplement: To replace vitamin D deficiency

Patient Support for Treatment of Porphyrias

The following actions may help Porphyrias patients:
  • Join support and advocacy groups: Helps patients to connect with other patients and families to provide valuable services

Time for Treatment of Porphyrias

While time-period of treatment for each patient may vary, below is the typical time-period for Porphyrias to resolve if treated properly under an expert supervision:
  • In 1 - 4 weeks

Last updated date

This page was last updated on 2/04/2019.
This page provides information for Porphyrias.
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