PORPHYRIA-Refers to a group of rare disorders that result from a buildup

of natural chemicals called porphyrins in the body. Eight enzymes are

needed to change porphyrins into heme. Without enough of any of these
enzymes, porphyrins build up in the body. High levels of porphyrins can
cause major problems, mainly in the nervous system and skin.
 There are two general types of porphyrias. Acute porphyrias start rapidly
and mainly affect the nervous system. Cutaneous porphyrias mainly affect
the skin. A few types of porphyrias affect both the nervous system and the
skin.
ACUTE PORPHYRIAS
Acute porphyrias include forms of the disease that usually cause nervous system
symptoms. A few forms also can affect the skin. Symptoms appear quickly and can
be severe. Symptoms may last hours, days or weeks.
The most common form of acute porphyria is called acute intermittent porphyria
(AIP). AIP may last hours or days. Intermittent means that the symptoms may go
away but return later. When the symptoms occur they are sometimes called
attacks.
 Symptoms of acute porphyrias may include:
 Severe pain in the belly, chest, legs or back.
  Digestive problems, such as constipation, nausea and vomiting.
 Muscle pain, tingling, numbness, weakness or paralysis.
 Red or brown urine.
 Mental changes, such as anxiety, hallucinations or mental confusion.
 Rapid or irregular heartbeats you can feel, called palpitations.
 Breathing problems.
 High blood pressure.
 Seizures.
Cutaneous porphyrias
Cutaneous porphyrias include forms of the disease that cause skin symptoms as a
result of sensitivity to sunlight. These forms usually don't affect the nervous
system. Porphyria cutanea tarda (PCT) is the most common type of all the
porphyrias.
Sun exposure may cause:
 Sensitivity to the sun and sometimes artificial light, causing burning pain in
the skin.
 Sudden painful skin redness and swelling. Blisters on exposed skin, usually
the hands, arms and face.
 Fragile thin skin with changes in skin color.
 Itching.
 Too much hair growth in affected areas.
 Red or brown urine.
GENETIC FORMS
Most forms of porphyria are caused by a gene change passed down from one or
both parents. Porphyria can occur if you inherit:
A changed gene from one of your parents (autosomal dominant pattern).
Changed genes from both parents (autosomal recessive pattern).
Just because you inherit a gene or genes that can cause porphyria doesn't mean
that you'll have symptoms. You might never have symptoms. This also is the case
for most carriers of the changed genes.
COMPLICATIONS
Possible complications depend on the form of porphyria:
 Acute porphyrias can be life-threatening if an attack isn't promptly treated.
During an attack, you may experience dehydration from loss of fluids,
breathing problems, seizures or high blood pressure. You may need a stay
in the hospital for treatment. Long-term complications with repeat acute
attacks may include long-term pain, chronic kidney failure, liver damage or
liver cancer.
 Cutaneous porphyrias can result in permanent skin damage. And the skin
blisters can become infected. When your skin heals after symptoms, it may
have a changed appearance and coloring, be fragile and slow to heal, or
leave scars. Cutaneous porphyrias also increase the risk of liver damage or
liver cancer.

In rare cases, a bone marrow transplant or liver transplant may be needed.

PREVENTION
Although there's no way to prevent porphyria, if you have the condition,
avoid triggers to help prevent symptoms.

Because porphyria is usually an inherited disorder, your siblings and other

family members may want to consider genetic testing to determine if they
have the condition. Genetic counseling is important to help understand test
results and risks