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:
