What is Porphyric Hemophilia?

Q:
What is porphyric hemophilia?

 

A:
Porphyric hemophilia is a family of disorders involving enzyme deficiencies. Due to such deficiency, it is difficult for the body to process heme precursors known as porphyrins.

Some of these disorders are genetic in nature. People can inherit the genes from their parents or develop spontaneous mutations that lead to some form of porphyric hemophilia.Others are acquired later in life.

In patients with porphyric hemophilia, the body cannot synthesize heme from porphyrins. But it has other sources it can use for heme. And usually cellular metabolism is not affected. Yet the patient experiences neurological symptoms because of the buildup of porphyrins.

In the acute form of the disease, patients may experience nausea, tremors, seizures, hallucinations, and depression. Other patients have trouble with their skin, such as bruises, blistering, and sensitivity to light.

Doctors can diagnose porphyric hemophilia by looking for tell-tale signs of the condition, like high concentrations of porphyrins in the urine and feces. These can lead to a purplish tinge in their waste products. Doctors can also look for chemical compounds related to the enzyme deficiency. Besides, they can also check for issues like poor nerve conduction, indicative of nerve damage caused by the porphyrin buildup.

Keyword: porphyric hemophilia

* The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.