- 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, deficiencies 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.
- Severe abdominal (belly) pain
- Pain often colicky (comes and goes)
- Pain may be felt in arms, legs, or back.
- 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
- Psychotic behavior
- Hallucinations -- seeing things that are not really there
- Depression may last along time.
- Shock and death
- Examples of some enzyme
- Uroporphyrinogen decarboxylase
(PCT), Uroporphyrinogen III synthetase,
- 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 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.
- 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 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
- Autoimmune disorders
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