About Porphyria
Porphyria is not a single disease but a group of at least eight
disorders that differ considerably from each other. A common feature
in all porphyrias is the accumulation in the body of "porphyrins" or "porphyrin
precursors." Although these are normal body chemicals, they normally
do not accumulate. Precisely which of these chemicals builds up depends
upon the type of porphyria.
The clinical manifestations of the different types of porphyria
are not the same. Forms of treatment also depend on the type of porphyria.
Therefore, it is difficult to make general statements that apply
to all these disorders.
The symptoms arise mostly from effects on the nervous system or
the skin. Effects on the nervous system occur in the acute porphyrias.
Proper diagnosis is often delayed because the symptoms are nonspecific.
Skin manifestations can include burning, blistering, and scarring
of sun-exposed areas.
The terms "porphyrin" and "porphyria" are derived
from the Greek word "porphyrus" meaning purple. Urine from
some porphyria patients may be reddish in color due to the presence
of excess porphyrins and related substances in the urine, and the
urine may darken after exposure to light.
This section includes much more information about porphyria. Specific
areas of this section are listed on the left. To continue reading
a general overview of the disease,
click here, or read about the different
types of porphyria.
|
