|
Congenital Erythropoietic Porphyria
|
|
Porphyria, acute
intermittent porphyria, AIP, CEP, porphyria cutanea tarda,
PCT, or coproporphyria
|
|
- 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
causes).
- In Porphyria,
abnormalities of enzymes (a protein molecule manufactured in
the body that acts as a catalyst) needed for the synthesis
of a pigments 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 survival.
- Porphyria can affect
children at an early age, and at puberty. Young and
middle-aged adults may also suffer from this
condition.
|
|
- Sudden attack -- gut, skin,
behavior, and nervous system affected)
- Usually last days to weeks
- Symptoms are usually reversible.
- Damage may be permanent.
- Symptoms:
- Severe abdominal (belly) pain
- Pain often colicky (comes and
goes)
- Pain may be felt in arms, legs, or
back.
- Constipation
- Vomiting
- No fever
- Urine may turn dark
(red-brown-purple)
- 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
darker
- Numbness over the skin
- Tingling in tips of fingers and
toes
- Muscle pain
- Paralysis
- Disorientation
- Confusion
- Psychotic behavior
- Hallucinations -- seeing things
that are not really there
- Depression may last
along time.
- Shock and death
rarely occur.
|
|
- Examples of some enzyme deficiencies:
Uroprophyrinogen decarboxylase (PCT), Cosynthetase ferrochelatase protPorphyria CEP), and
many others - Genetic:
- 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).
|
|
- Symptoms
- Surgeries
- Birth history
- Illnesses
- Drugs
- Allergies
- Family history
- Habits
- Occupation
- 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 psychological
findings
- 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)
deficiency present.
- 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.
|
|
- Caucasians
- 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
- Menstruation
|
|
- Supportive during attacks
- Avoid aggravating drugs such as
alcohol.
- Avoid sunlight and skin damage by
wearing hats, long sleeve shirts, and sunscreen when in the
sun.
- Bed rest with a stress free and calm
environment
- 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 psychotic
episodes.
- 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
accordingly.
- Hematin is a type of porphyrin given
IV for up to two weeks for severe cases.
- Betacarotene (Solatene) pills may
help.
- Vitamin C may help if levels are
low.
- Menstruating women with Porphyria may benefit
from hormone therapy to suppress their menstrual
periods.
|
|
-
Contact your
physician who may then consult with a hematologist (blood
doctor) and a genetic specialists in order to better help
you.
|
|
- Acquired porphyries
- Stroke
- Cancers
- Autoimmune disorders
|
| | |
If you want your friend to read or know about this article, Click here
|
|
|