BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuPorphyriaPorphyria cutanea tarda; Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; Erythropoietic protoporphyriaPorphyrias are a group of rare inherited disorders. An important part of hemoglobin, called heme, is not made properly. Hemoglobin is a protein in red blood cells that carries oxygen. Heme is also found in myoglobin, a protein found in certain muscles.HemoglobinHemoglobin is a protein in red blood cells that carries oxygen. The hemoglobin test measures how much hemoglobin is in your blood.ImageRead Article Now Book Mark Article Causes Normally, the body makes heme in a multi-step process. Porphyrins are made during several steps of this process. People with porphyria are lacking certain enzymes needed for this process. This causes abnormal amounts of porphyrins or related chemicals to build up in the body.EnzymesEnzymes are complex proteins that cause a specific chemical change. For example, they can help break down the foods we eat so the body can use them....Read Article Now Book Mark Article There are many different forms of porphyria. The most common type is porphyria cutanea tarda (PCT).Drugs, infection, alcohol, and hormones such as estrogen may trigger attacks of certain types of porphyria.Porphyria is inherited. This means the disorder is passed down through families. Symptoms Porphyria causes three major symptoms:Abdominal pain or cramping (only in some forms of the disease) Sensitivity to light that can cause rashes, blistering, and scarring of the skin (photodermatitis) Problems with the nervous system and muscles (seizures, mental disturbances, nerve damage) Attacks can occur suddenly. They often start with severe abdominal pain followed by vomiting and constipation. Being out in the sun can cause pain, sensations of heat, blistering, and skin redness and swelling. Blisters heal slowly, often with scarring or skin color changes. The scarring may be disfiguring. Urine may turn red or brown after an attack.Other symptoms include:Muscle pain Muscle weakness or paralysis Numbness or tingling Pain in the arms or legs Pain in the back Personality changes or psychosisAttacks can sometimes be life threatening, producing:Low blood pressure Severe electrolyte imbalances Shock Exams and Tests Your health care provider will perform a physical exam, which includes listening to your heart. You may have a fast heart rate (tachycardia). The provider may find that your deep tendon reflexes (knee jerks or others) do not work properly.Blood and urine tests may reveal kidney problems or other problems. Some of the other tests that may be done include:Blood gases Blood gasesBlood gases are a measurement of how much oxygen and carbon dioxide are in your blood. They also determine the acidity (pH) of your blood.ImageRead Article Now Book Mark Article Comprehensive metabolic panel Comprehensive metabolic panelA comprehensive metabolic panel is a group of blood tests. They provide an overall picture of your body's chemical balance and metabolism. Metaboli...ImageRead Article Now Book Mark Article Porphyrin levels and levels of other chemicals linked to this condition (checked in the blood or urine) BloodPorphyrins help form many important substances in the body. One of these is hemoglobin. This is the protein in red blood cells that carries oxygen ...ImageRead Article Now Book Mark Article UrinePorphyrins are natural chemicals in the body that help form many important substances in the body. One of these is hemoglobin, the protein in red bl...ImageRead Article Now Book Mark Article Ultrasound of the abdomen Ultrasound of the abdomenAbdominal ultrasound is a type of imaging test. It is used to look at organs in the abdomen, including the liver, gallbladder, spleen, pancreas, and...ImageRead Article Now Book Mark Article UrinalysisUrinalysisUrinalysis is the physical, chemical, and microscopic examination of urine. It involves a number of tests to detect and measure various compounds th...ImageRead Article Now Book Mark Article Treatment Some of the medicines used to treat a sudden (acute) attack of porphyria may include:Hematin given through a vein (intravenously) IntravenouslyIntravenous means "within a vein. " Most often it refers to giving medicines or fluids through a needle or tube inserted into a vein. This allows th...Read Article Now Book Mark Article Pain medicine Propranolol to control the heartbeat Sedatives to help you feel calm and less anxious Other treatments may include:Beta-carotene supplements to lessen photosensitivity Chloroquine in low doses to reduce levels of porphyrins Fluids and glucose to boost carbohydrate levels, which helps limit the production of porphyrins CarbohydrateCarbohydrates are one of the main nutrients in our diet. They help provide energy for our body. There are three main types of carbohydrates found i...ImageRead Article Now Book Mark Article Removal of blood (phlebotomy) to reduce levels of porphyrinsDepending on the type of porphyria you have, your provider may tell you to:Avoid all alcohol Avoid certain drugs that may trigger an attack Avoid injuring the skin Avoid sunlight as much as possible and use sunscreen when outside Eat a high-carbohydrate diet Support Groups More information and support for people with porphyria and their families can be found at:American Porphyria Foundation -- porphyriafoundation.org/for-patients/patient-portal/ National Institute of Diabetes and Digestive and Kidney Diseases -- www.niddk.nih.gov/health-information/liver-disease/porphyria National Organization for Rare Disorders -- rarediseases.org/rare-diseases/porphyria/ Outlook (Prognosis) Porphyria is a life-long disease with symptoms that come and go. Some forms of the disease cause more symptoms than others. Getting proper treatment and staying away from triggers can help lengthen the time between attacks. Possible Complications Complications may include:Coma ComaDecreased alertness is a state of reduced awareness and is often a serious condition. A coma is the most severe state of decreased alertness from whi...Read Article Now Book Mark Article Gallstones GallstonesGallstones are hard deposits that form inside the gallbladder. These may be as small as a grain of sand or as large as a golf ball.ImageRead Article Now Book Mark Article Paralysis ParalysisMuscle function loss is when a muscle does not work or move normally. The medical term for complete loss of muscle function is paralysis.ImageRead Article Now Book Mark Article Respiratory failure (due to weakness of chest muscles) Scarring of the skin When to Contact a Medical Professional Get medical help as soon as you have signs of an acute attack. Talk to your provider about your risk for this condition if you have a long history of undiagnosed abdominal pain, muscle and nerve problems, and sensitivity to sunlight. Prevention Genetic counseling may benefit people who want to have children and who have a family history of any type of porphyria.Genetic counselingGenetics is the study of heredity, the process of a parent passing certain genes on to their children. A person's appearance, such as height, hair co...ImageRead Article Now Book Mark Article Open ReferencesReferencesBalwani M, Desnick RJ, Anderson KE. The porphyrias. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 110.Dinulos JGH. Light-related diseases and disorders of pigmentation. In: Dinulos JGH, ed. Habif's Clinical Dermatology. 7th ed. Philadelphia, PA: Elsevier; 2021:chap 19.Fuller SJ, Wiley JS. Heme biosynthesis and its disorders: porphyrias and sideroblastic anemias. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 39.Hift RJ. The porphyrias. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 199.AllVideoImagesTogPorphyria cutanea tarda on the hands - illustration Porphyria cutanea tarda can be inherited as a dominant trait or acquired due to liver disease. Sun exposed areas develop blistering (vesicles and bullae), erosions and ulcerations, fragile skin, pigmentary changes, and scarring.Porphyria cutanea tarda on the handsillustrationPorphyria cutanea tarda on the hands - illustration Porphyria cutanea tarda can be inherited as a dominant trait or acquired due to liver disease. Sun exposed areas develop blistering (vesicles and bullae), erosions and ulcerations, fragile skin, pigmentary changes, and scarring.Porphyria cutanea tarda on the handsillustrationRelated Information Hemoglobin(Medical Test)Photophobia (Symptoms)Rashes(Symptoms)Abdominal pain(Symptoms)Acute(Special Topic)Numbness and tingling(Symptoms)Weakness(Symptoms)Muscle function loss(Symptoms)Muscle aches(Symptoms)Comprehensive metabolic panel(Medical Test)Gallstones and gallbladder disease - InDepth(In-Depth) Review Date: 2/2/2023 Reviewed By: Mark Levin, MD, Hematologist and Oncologist, Monsey, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. No warranty of any kind, either expressed or implied, is made as to the accuracy, reliability, timeliness, or correctness of any translations made by a third-party service of the information provided herein into any other language. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited. © 1997- All rights reserved. A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.Content is best viewed in IE9 or above, Firefox and Google Chrome browser.
PorphyriaPorphyria cutanea tarda; Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; Erythropoietic protoporphyriaPorphyrias are a group of rare inherited disorders. An important part of hemoglobin, called heme, is not made properly. Hemoglobin is a protein in red blood cells that carries oxygen. Heme is also found in myoglobin, a protein found in certain muscles.HemoglobinHemoglobin is a protein in red blood cells that carries oxygen. The hemoglobin test measures how much hemoglobin is in your blood.ImageRead Article Now Book Mark Article Causes Normally, the body makes heme in a multi-step process. Porphyrins are made during several steps of this process. People with porphyria are lacking certain enzymes needed for this process. This causes abnormal amounts of porphyrins or related chemicals to build up in the body.EnzymesEnzymes are complex proteins that cause a specific chemical change. For example, they can help break down the foods we eat so the body can use them....Read Article Now Book Mark Article There are many different forms of porphyria. The most common type is porphyria cutanea tarda (PCT).Drugs, infection, alcohol, and hormones such as estrogen may trigger attacks of certain types of porphyria.Porphyria is inherited. This means the disorder is passed down through families. Symptoms Porphyria causes three major symptoms:Abdominal pain or cramping (only in some forms of the disease) Sensitivity to light that can cause rashes, blistering, and scarring of the skin (photodermatitis) Problems with the nervous system and muscles (seizures, mental disturbances, nerve damage) Attacks can occur suddenly. They often start with severe abdominal pain followed by vomiting and constipation. Being out in the sun can cause pain, sensations of heat, blistering, and skin redness and swelling. Blisters heal slowly, often with scarring or skin color changes. The scarring may be disfiguring. Urine may turn red or brown after an attack.Other symptoms include:Muscle pain Muscle weakness or paralysis Numbness or tingling Pain in the arms or legs Pain in the back Personality changes or psychosisAttacks can sometimes be life threatening, producing:Low blood pressure Severe electrolyte imbalances Shock Exams and Tests Your health care provider will perform a physical exam, which includes listening to your heart. You may have a fast heart rate (tachycardia). The provider may find that your deep tendon reflexes (knee jerks or others) do not work properly.Blood and urine tests may reveal kidney problems or other problems. Some of the other tests that may be done include:Blood gases Blood gasesBlood gases are a measurement of how much oxygen and carbon dioxide are in your blood. They also determine the acidity (pH) of your blood.ImageRead Article Now Book Mark Article Comprehensive metabolic panel Comprehensive metabolic panelA comprehensive metabolic panel is a group of blood tests. They provide an overall picture of your body's chemical balance and metabolism. Metaboli...ImageRead Article Now Book Mark Article Porphyrin levels and levels of other chemicals linked to this condition (checked in the blood or urine) BloodPorphyrins help form many important substances in the body. One of these is hemoglobin. This is the protein in red blood cells that carries oxygen ...ImageRead Article Now Book Mark Article UrinePorphyrins are natural chemicals in the body that help form many important substances in the body. One of these is hemoglobin, the protein in red bl...ImageRead Article Now Book Mark Article Ultrasound of the abdomen Ultrasound of the abdomenAbdominal ultrasound is a type of imaging test. It is used to look at organs in the abdomen, including the liver, gallbladder, spleen, pancreas, and...ImageRead Article Now Book Mark Article UrinalysisUrinalysisUrinalysis is the physical, chemical, and microscopic examination of urine. It involves a number of tests to detect and measure various compounds th...ImageRead Article Now Book Mark Article Treatment Some of the medicines used to treat a sudden (acute) attack of porphyria may include:Hematin given through a vein (intravenously) IntravenouslyIntravenous means "within a vein. " Most often it refers to giving medicines or fluids through a needle or tube inserted into a vein. This allows th...Read Article Now Book Mark Article Pain medicine Propranolol to control the heartbeat Sedatives to help you feel calm and less anxious Other treatments may include:Beta-carotene supplements to lessen photosensitivity Chloroquine in low doses to reduce levels of porphyrins Fluids and glucose to boost carbohydrate levels, which helps limit the production of porphyrins CarbohydrateCarbohydrates are one of the main nutrients in our diet. They help provide energy for our body. There are three main types of carbohydrates found i...ImageRead Article Now Book Mark Article Removal of blood (phlebotomy) to reduce levels of porphyrinsDepending on the type of porphyria you have, your provider may tell you to:Avoid all alcohol Avoid certain drugs that may trigger an attack Avoid injuring the skin Avoid sunlight as much as possible and use sunscreen when outside Eat a high-carbohydrate diet Support Groups More information and support for people with porphyria and their families can be found at:American Porphyria Foundation -- porphyriafoundation.org/for-patients/patient-portal/ National Institute of Diabetes and Digestive and Kidney Diseases -- www.niddk.nih.gov/health-information/liver-disease/porphyria National Organization for Rare Disorders -- rarediseases.org/rare-diseases/porphyria/ Outlook (Prognosis) Porphyria is a life-long disease with symptoms that come and go. Some forms of the disease cause more symptoms than others. Getting proper treatment and staying away from triggers can help lengthen the time between attacks. Possible Complications Complications may include:Coma ComaDecreased alertness is a state of reduced awareness and is often a serious condition. A coma is the most severe state of decreased alertness from whi...Read Article Now Book Mark Article Gallstones GallstonesGallstones are hard deposits that form inside the gallbladder. These may be as small as a grain of sand or as large as a golf ball.ImageRead Article Now Book Mark Article Paralysis ParalysisMuscle function loss is when a muscle does not work or move normally. The medical term for complete loss of muscle function is paralysis.ImageRead Article Now Book Mark Article Respiratory failure (due to weakness of chest muscles) Scarring of the skin When to Contact a Medical Professional Get medical help as soon as you have signs of an acute attack. Talk to your provider about your risk for this condition if you have a long history of undiagnosed abdominal pain, muscle and nerve problems, and sensitivity to sunlight. Prevention Genetic counseling may benefit people who want to have children and who have a family history of any type of porphyria.Genetic counselingGenetics is the study of heredity, the process of a parent passing certain genes on to their children. A person's appearance, such as height, hair co...ImageRead Article Now Book Mark Article Open ReferencesReferencesBalwani M, Desnick RJ, Anderson KE. The porphyrias. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 110.Dinulos JGH. Light-related diseases and disorders of pigmentation. In: Dinulos JGH, ed. Habif's Clinical Dermatology. 7th ed. Philadelphia, PA: Elsevier; 2021:chap 19.Fuller SJ, Wiley JS. Heme biosynthesis and its disorders: porphyrias and sideroblastic anemias. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 39.Hift RJ. The porphyrias. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 199.