$Unique_ID{BRK04125} $Pretitle{} $Title{Porphyria} $Subject{Porphyria Acute Intermittent Porphyria Variegate Porphyria Hereditary Coproporphyria Protoporphyria Porphyria Cutanea Tarda Congenital Erythropoietic Porphyria ALA-D Porphyria} $Volume{} $Log{} Copyright (C) 1990, 1991, 1992 National Organization for Rare Disorders, Inc. 675: Porphyria ** IMPORTANT ** It is possible the main title of the article (Porphyria) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Disorder Subdivisions: Acute Intermittent Porphyria Variegate Porphyria Hereditary Coproporphyria Protoporphyria Porphyria Cutanea Tarda Congenital Erythropoietic Porphyria ALA-D Porphyria General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Porphyria is not one, but at least seven types of rare and complex disorders. The different types vary in their clinical presentation. Basically the clinical problems group themselves into disorders of the nervous system and skin. Sometimes these symptoms are so ill-defined that proper diagnosis is delayed. The urine of some patients is a purple-red color or changes to that color when exposed to light. ACUTE INTERMITTENT PORPHYRIA Abdominal pain is the most common complaint in Acute Intermittent Porphyria. In addition, some of the following symptoms occur with varying frequency: pain in the arms and leg, generalized weakness, vomiting, confusion, constipation, tachycardia, fluctuating blood pressure, urinary retention, psychosis, hallucinations, and seizures. The muscle weakness may progress to respiratory paralysis, necessitating artificial respiration. Porphobilinogen is elevated during the attack but may be consistently high in some patients. urine may exhibit a purple-red color. Unlike other forms of porphyria, sun sensitivity is not present in this type. VARIEGATE PORPHYRIA Variegate Porphyria is characterized by abrasions, blisters, and erosions of the skin which are commonly seen during the second and third decade. These lesions tend to heal slowly, often leaving pigmented or slightly depressed scars. The patients experience sensitivity to light and fragility of skin exposed to the sun. Although in many patients manifestations remain limited to the skin, episodes similar to those of acute porphyria are not uncommon. Therefore, the symptoms, drugs, precautionary measures, and treatment described for Acute intermittent porphyria are applicable to variegate porphyria. (See the Standard Therapy section. HEREDITARY COPROPORPHYRIA The large amounts of coproporphyrin present in Hereditary Coproporphyrin makes the patient sensitive to sunlight, but skin disease is rarely severe in this type of porphyria. Clinically it resembles Variegate Porphyria except that a larger percentage of affected individuals exhibit few symptoms. Other symptoms are similar to those listed for Acute Intermittent Porphyria. PROTOPORPHYRIA Protoporphyria can have mild to severe light sensitivity and burning on exposure to the sunlight. Usually, the symptoms subside in twelve to twenty- four hours and heal without significant scarring or discoloration to the skin. The skin lesions may also progress to a chronic stage persisting for weeks and healing with a superficial scar. These manifestations generally begin in childhood. They are more severe in the summer and can recur throughout life. Affected skin, at times, exhibits the fragility or blister formation seen in other photosensitizing types of porphyria. Hepatobiliary dysfunction may be associated with significant liver damage. PORPHYRIA CUTANEA TARDA In Porphyria Cutanea Tarda, exposed skin shows abnormalities similar to those found in variegate porphyria. They range from slight fragility of the skin to persistent scarring and disfiguration. Due to fragility of the skin, minor trauma may induce blister formation. Areas of increased and decreased pigment content may be noted on the skin. Blistering of light exposed skin and increased hair growth, especially on the face, are also characteristic. CONGENITAL ERYTHROPOIETIC PORPHYRIA This is a very rare disease with approximately 150 patients reported in the world. Congenital Erythropoietic Porphyria is often manifested shortly after birth with dark urine and sunlight sensitivity causing blistering and skin fragility. Later, brownish, fluorescent teeth, increased hair growth, and pronounced scarring may occur. In some cases, loss of fingers and toes and cartilage from ears or nose may be noted. ALA-D PORPHYRIA ALA-D Porphyria symptoms usually arise from effects on the nervous system and/or the skin. Sometimes, the cause of the nervous system symptoms is not clear. Skin manifestations include burning, blistering, and scarring of the sun exposed areas. The disease usually manifests after puberty, and more commonly occurs in women. The most common symptom is severe abdominal pain. Other characteristics are nausea, vomiting, rapid heart rate, increased blood pressure, confusion and/or seizures, and the passing of ALA (delta- aminolevulinic acid) in the urine. For more complete information on each of the individual types of Porphyria, choose "Porphyria" as your search term in the Rare Disease Database.) Causes The porphyrias are most often inherited. There is a unique enzyme deficiency in each type of the disease. These enzymes are involved in the synthesis of heme, the oxygen carrying part of hemoglobin in red blood cells. Virtually all cases or porphyria have a dominant inheritance. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Therapies: Standard The basic defect cannot presently be treated, but significant effort is being directed toward treating the underlying mechanisms that cause symptoms. Drugs which are considered harmful for persons with Acute Intermittent Porphyria, Varigeta Porphyria, and Hereditary Coproporphyria include: 1. Barbiturates 2. Sulfonamides 3. Other tranquilizers and sedatives 4. Griseofulvin 5. Anti-epilepsy drugs. 6. Birth control pills The orphan drug Hemin 2,3, is approved for use as a treatment for various forms of Porphyria. It is manufactured by Abbott Labs. Therapies: Investigational Dr. Karl Anderson of Texas Medical Branch, Galveston, TX, 77550, has received orphan drug designation for Histrelin, a drug to treat various types of Porphyria. Leiras, manufacturer of the drug heme arginate for treatment of Porphyria, has agreed to supply the United States with the drug for studies here. Heme Arginate may prove to be a safer product for treatment of acute prophyrias as there are fewer side effects. Leiras is the pharmaceutical division of the Finish company Huhtamaki Corp. For more information, please contact: Ms. Pirjo Pietilainen Leiras P.O. Box 415 SF-20101 Turku Finland This disease entry is based upon medical information available through July 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Porphyria, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Porphyria Foundation P.O. Box 22712 Houston, TX 77227 (713) 266-9617 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References American Porphyria Foundation Brochure, "Common Questions Asked About Porphyria."