intermittent porphyria, congenital erythropoietic porphyria,
CEP, porphyria cutanea tarda, PCT, or
- The term porphyria refers to a
group of disorders that are either inherited (i.e., passed
down from parent to child) or acquired (i.e., due to other
- In porphyria
, deficiencies of enzymes (a protein molecule manufactured in
the body that acts as a catalyst) needed for the synthesis
of a pigment known as heme lead to a series of medical and
even psychological problems. Heme (contains structures known
as porphyrins) is necessary to make hemoglobin (in red blood
cells), myoglobin (in muscle cells), and other materials
(cytochromes) that are needed for normal body function and
- Porphyria can affect
children at an early age, and at puberty. Young and
middle-aged adults may also suffer from this
- Sudden attack -- gut, skin, behavior,
and nervous system affected
- Usually last days to weeks
- Symptoms are usually reversible.
- Damage may be permanent.
- Severe abdominal (belly) pain
- Pain often colicky (comes and goes)
- Pain may be felt in arms, legs, or
- No fever
- Urine may turn dark (red, brown,
- Skin sensitivity (photosensitivity)
to light-may blister, swelling may occur
- Skin may blister (fluid field sacs)
or show ulcerations (shallow wounds)
- Color of palms and face may get
- Numbness over the skin
- Tingling in tips of fingers and
- Muscle pain
- Psychotic behavior
- Hallucinations -- seeing things that
are not really there
- Depression may last a
- Shock and death rarely
- Examples of some enzyme deficiencies:
decarboxylase (PCT), uroporphyrianegen synthetase ferrochelatase protporphyria (CEP), and several others.
- Autosomal dominant -- only one parent has the defective or missing gene that can cause Porphyria in 50% of his/her children.
- Autosomal recessive -- parents do not have Porphyria but each carry a genetic abnormality that when combined through marriage, causes Porphyria in their children (1 out of 4 will be affected).
- Acquired -- reduced levels of enzymes due to alcohol, steroids, lead poisoning, hexachlorobenzene (toxic fungicide) exposure, and vitamin deficiency (possibly C).
- Birth history
- Family history
- Rapid heart rate
- Low Blood Pressure
- Tender abdomen
- Skin changes
- Enlarged spleen -- an organ located in
left upper part of the abdomen behind the rib cage.
- Neurological (nervous system) and
- Enzyme levels
- Genetic testing may be needed.
- Samples of blood, urine, stool,
bile (gall bladder secretions), saliva, and red blood
cells -- all analyzed for porphyrins, which are not
normally found in these secretions unless there is a type of Porphyria (enzyme)
- Blood ferritin (iron stores) levels
are elevated in PCT
- Blood levels of kidney, liver, Electrolytes (potassium, Sodium), red blood cells, white blood cells, and other cell types are measured.
- Chemicals (see above)
- Hormones -- estrogens and oral
contraceptives (birth control pills)
- Drugs such as sulfur meds, Methotrexate, ergots,
Phenytoin, barbiturates, etc.
- Infections-HIV, Hepatitis C
- Liver disease
- Fasting or dieting
- PCT more common in males
- Supportive during attacks
- Avoid aggravating drugs such as
- Avoid sunlight and skin damage by
wearing hats, long sleeve shirts, and sunscreen when in the
- Bed rest with a stress free and
- Pain medications for pain
- Supplement Electrolytes if low
in body fluids given intravenously (IV)
- High carbohydrate diet may help.
Glucose may be given IV.
- Sedatives such as Valium or Haldol may help for
- Seizures may occur
requiring medication (e.g., Clonazepam) and precautions.
- Monitor blood oxygen levels if
respiratory problems have occurred.
- Treat low or high blood pleasure
- Hematin is a type of porphyrin
given IV for up to two weeks for severe cases.
- Betacarotene (Solatene) pills may
- Vitamin C may help if levels are
- Menstruating women with Porphyria may benefit
from hormone therapy to suppress their menstrual
Contact your physician who may then
consult with a hematologist (blood doctor) and a genetic
specialists in order to better help
- Acquired porphyrins
- Autoimmune disorders
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