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Porphyria
Alternate Names : Acute Intermittent Porphyria, Congenital Erythropoietic Porphyria, Erythropoietic Protoporphyria, Hereditary Coproporphyria
Definition
Porphyria is a group of inherited disorders involving abnormalities in the production of heme pigments (the base material responsible for hemoglobin (red blood cell pigment), myoglobin (reddish muscle cell pigment) and another group of materials called cytochromes.
Porphyrias are characterized by three major findings: photodermatitis (light sensitivity causing rashes), neuropsychiatric complaints, and visceral complaints (such as abdominal pain or cramping).
Pictures & Images
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Overview, Causes, & Risk Factors
The porphyrias may be inherited as either autosomal dominant (caused by inheriting one abnormal copy of the gene) or autosomal recessive (requires inheritance of two abnormal genes) traits, depending on which type of porphyria is involved. Some types of porphyria begin in early childhood, some at puberty, and others begin during adulthood.
A classical attack of acute porphyria generally begins with colicky abdominal pain (severe), and is then followed by vomiting and constipation. Personality changes may develop during an acute attack, in addition to peripheral paresthesia (numbness and tingling), weakness, paralysis, sensory changes, and muscle pain. Acute attacks can be life-threatening, producing severe electrolyte imbalances, low blood pressure, and shock.
Urine may become red or brown following an attack. Exposure to sunlight can cause reddening, pain, sensations of heat, blistering, and edema in the skin. These lesions heal slowly, often with scarring or pigment changes and can be disfiguring.
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- Hypertension (High Blood Pressure)
- Attention Deficit/Hyperactivity Disorder (ADHD - Pediatric)
- Memory Loss
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Jump to another section
• Definition
• Porphyria Overview, Causes, & Risk Factors
• Porphyria Symptoms & Signs
• Porphyria Prevention
• Porphyria Diagnosis & Tests
• Porphyria Treatment
• Porphyria Prognosis
• Porphyria Complications
• Calling Your Health Care Provider
• Pictures & Images
Topics that might be of interest to you Diseases & Conditions
• Cholelithiasis
• Dilutional Hyponatremia (SIADH)
• Hypertension
Tests & Exams
• Beta-Carotene
• BUN
• CHEM-20
• Creatinine - Serum
• Creatinine Clearance
• ELISA
• Hemoglobin
• PBG
• Porphyrins - Blood
• Potassium Test
• Urinalysis
Surgery & Procedures
• Spleen Removal
Other Topics
• Abdominal Pain
• Acute
• Agitation
• Back Pain - Low
• Blood Pressure - Low
• Carbohydrates
• Consciousness - Decreased
• Constipation
• Electrolytes
• Intravenous
• Muscle Aches
• Muscle Cramps
• Muscle Function Loss
• Nausea and Vomiting
• Numbness and Tingling
• Pain Medications
• Pulse - Bounding
• Rashes
• Respiratory
• Shock
• Swelling
• Vesicles
• Vision - Light Sensitive
• Weakness
Review Date : 6/5/2003
Reviewed By : Ezra E. W. Cohen, M.D., Section of Hematology/Oncology, Department of Medicine, The University of Chicago, Chicago, IL. Review provided by VeriMed Healthcare Network.
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