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Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme. Heme is found throughout the body, especially in your blood and bone marrow, where it carries oxygen.

There are two main types of porphyrias. One affects the skin and the other affects the nervous system. People with the skin type develop blisters, itching, and swelling of their skin when it is exposed to sunlight. The nervous system type is called acute porphyria. Symptoms include pain in the chest, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. These symptoms come and go.

Certain triggers can cause an attack, including some medicines, smoking, drinking alcohol, infections, stress, and sun exposure. Attacks develop over hours or days. They can last for days or weeks.

Porphyria can be hard to diagnose. It requires blood, urine, and stool tests. Each type of porphyria is treated differently. Treatment may involve avoiding triggers, receiving heme through a vein, taking medicines to relieve symptoms, or having blood drawn to reduce iron in the body. People who have severe attacks may need to be hospitalized.

NIH: National Institute of Diabetes and Digestive and Kidney Diseases

Symptoms of Porphyria

The following features are indicative of Porphyria:
  • severe abdominal pain
  • abdominal distention
  • constipation
  • diarrhea
  • vomiting
  • insomnia
  • palpitations
  • hypertension
  • anxiety
  • restlessness
  • seizures
  • mental changes
  • breathing problems
  • muscle pain
  • tingling
  • numbness
  • weakness
  • red or brown urine
  • paralysis
  • photodermatitis
  • scarring
  • blistering
  • rashes
It is possible that Porphyria shows no physical symptoms and still be present in a patient.

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Common Causes of Porphyria

The following are the most common causes of Porphyria:
  • genetic mutations
  • family inheritance

Risk Factors for Porphyria

The following factors may increase the likelihood of Porphyria:
  • dieting
  • fasting
  • smoking
  • physical stress
  • liver disease
  • emotional stress
  • alcohol use
  • menstrual hormones
  • sun exposure
  • excess iron in body

Prevention of Porphyria

Yes, it may be possible to prevent Porphyria. Prevention may be possible by doing the following:
  • do not use alcohol
  • do not use drugs
  • avoid fasting
  • avoid dieting
  • do not smoke
  • avoid sun exposure
  • treat infections and other illnesses promptly
  • reduce emotional stress
  • genetic counseling

Occurrence of Porphyria

Number of Cases

The following are the number of Porphyria cases seen each year worldwide:
  • Common between 1 - 10 Million cases

Common Age Group

Porphyria can occur at any age.

Common Gender

Porphyria can occur in any gender.

Lab Tests and Procedures for Diagnosis of Porphyria

The following lab tests and procedures are used to detect Porphyria:
  • Urine test: To reveal elevated levels of porphobilinogen, delta-aminolevulinic acids and other porphyrins
  • Blood test: To check elevation in the level of porphyrins
  • Stool sample test: To reveal elevated levels of some porphyrins that may not be detected in urine samples

Doctor for Diagnosis of Porphyria

Patients should visit the following specialists if they have symptoms of Porphyria:
  • Rheumatologist
  • Dermatologist

Complications of Porphyria if untreated

Yes, Porphyria causes complications if it is not treated. Below is the list of complications and problems that may arise if Porphyria is left untreated:
  • dehydration
  • breathing difficulties
  • hyponatremia
  • hypertension
  • chronic kidney failure
  • liver damage
  • permanent skin damage

Procedures for Treatment of Porphyria

The following procedures are used to treat Porphyria:
  • Phlebotomy: Helps decreasing porphyrins

Self-care for Porphyria

The following self-care actions or lifestyle changes may help in the treatment or management of Porphyria:
  • Learn about trigger symptoms: To avoid the worsening of symptoms
  • Wear a medical alert bracelet or necklace

Alternative Medicine for Treatment of Porphyria

The following alternate medicine and therapies are known to help in the treatment or management of Porphyria:
  • Take vitamin D supplements: To replace vitamin D deficiency caused by avoidance of sunlight

Patient Support for Treatment of Porphyria

The following actions may help Porphyria patients:
  • Support groups: Helps educating patient and family about various aspects of living with a rare disease

Time for Treatment of Porphyria

While time-period of treatment for each patient may vary, below is the typical time-period for Porphyria to resolve if treated properly under an expert supervision:
  • Disease cannot be treated but only maintained or effects reduced

Related Topics

Last updated date

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

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