What is erythropoietic protoporphyria symptoms?
Signs & Symptoms
The most common symptom of erythropoietic protoporphyria and X-linked protoporphyria is severe pain on sun exposure. Some patients may also be sensitive to some types of artificial light. When the skin is exposed to sun, patients first develop tingling, itching, and/or burning of the skin.
Does EPP have a cure?
EPP is the third most common porphyria—estimated to occur in about 1 in about 74,300 individuals—and the type most often seen in children. Women and men appear to be equally affected. While there is currently no known cure for EPP, there are ways to manage it.
What enzyme is deficient in Xlink protoporphyria?
Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder characterized by a deficiency of the enzyme ferrochelatase (FECH). Due to abnormally low activity of this enzyme, excessive amounts of protoporphyrin accumulate in the bone marrow, blood plasma, and red blood cells.
How many people have EPP in the world?
An estimated 5,000–10,000 individuals worldwide have EPP.
Can porphyria cause mental illness?
Acute intermittent porphyria mimics a variety of commonly occurring disorders and thus poses a diagnostic quagmire. Psychiatric manifestations include hysteria, anxiety, depression, phobias, psychosis, organic disorders, agitation, delirium, and altered consciousness ranging from somnolence to coma.
How does porphyria affect the body?
During an attack, you may experience dehydration, breathing problems, seizures and high blood pressure. Episodes often require hospitalization for treatment. Long-term complications with recurrent acute attacks may include chronic pain, chronic kidney failure and liver damage.
Is EPP a blood disorder?
Erythropoietic Protoporphyria (EPP) is a rare inherited metabolic disorder characterized by a deficiency of the enzyme ferrochelatase (FECH). Due to abnormally low levels of this enzyme, excessive amounts of protoporphyrin accumulate in the bone marrow, blood plasma, and red blood cells.
What is an EPP patient?
Erythropoietic protoporphyria (EPP) is an inherited porphyria resulting in the accumulation of protoporphyrins in red blood cells that causes acute, painful photosensitivity and potential liver disease. It typically presents in early childhood with immediate pain and crying upon exposure to bright sunlight.
Is EPP hereditary?
Erythropoietic protoporphyria (EPP) is an inherited condition resulting in the accumulation of protoporphyrins in red blood cells that causes acute, painful, non-blistering photosensitivity and potential liver disease.
What causes EPP?
Erythropoietic protoporphyria (EPP) is a type of porphyria. Porphyrias are caused by an abnormality in the heme production process. Heme is essential in enabling our blood cells to carry oxygen and in breaking down chemical compounds in the liver.
How does porphyria affect the nervous system?
The nervous system type is called acute porphyria. Symptoms include pain in the chest, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. These symptoms come and go.
What triggers porphyria?
Porphyria cutanea tarda (PCT) typically is acquired rather than inherited, although the enzyme deficiency may be inherited. Certain triggers that impact enzyme production — such as too much iron in the body, liver disease, estrogen medication, smoking or excessive alcohol use — can cause symptoms.
Does porphyria affect the brain?
Acute hepatic porphyrias (AHP) can cause severe neurological symptoms involving the central, autonomic and peripheral nervous system. Due to their relative rarity and their chameleon‐like presentation awareness among neurologists is low and delayed diagnosis and misdiagnosis are common.
What are the treatment options for erythropoietic protoporphyria?
Options for treatment include suppressing erythropoiesis through the use of iron, red blood cell transfusion, or pan-hematin. Previously reported cases suggest that the use of pan-hematin may be effective in inhibiting the heme synthesis process, thereby decreasing the accumulation of protoporphyrin X.
How can erythropoietic protoporphyria be prevented?
Prevention of phototoxicity in EPP is by avoiding sunlight by using sun protective clothes including long sleeve tops, long pants, hats and sunglasses. Sunscreens containing physical reflecting ingredients can reduce the amount of light penetrating the skin.
What does EPP mean in medical terms?
What is an Exposure Prone Procedure (EPP)? The Department of Health defines Exposure Prone Procedures (EPPs) as ‘invasive procedures where there is a risk that injury to the worker may result in the exposure of the patient’s open tissues to the blood of the worker.
How is erythropoietic protoporphyria treated?
In Erythropoietic Protoporphyria, a high potency form of oral beta-carotene (Lumitene, Tishcon) may be given to improve an affected individual’s tolerance of sunlight. In some cases, the drug cholestyramine may be given to alleviate skin symptoms and lower the protoporphyrin levels in the body.
What does porphyria pain feel like?
The most commonly reported debilitating symptoms are diffuse severe pain affecting the abdomen, back, or limbs; other common attack signs and symptoms include nausea and vomiting, constipation, hypertension, motor weakness, insomnia, or anxiety [1–3, 5].
What is the life expectancy of someone with porphyria?
This depends upon the specific type of porphyria and the severity. For most patients, the life expectancy is similar to that of persons without porphyria.
What foods should be avoided with porphyria?
The main dietary advice for persons with Porphyria Cutanea Tarda is to avoid all alcohol in any form. In addition, adherence to a low iron diet with avoidance of any medicinal iron and with ingestion of limited amounts of liver or red meat, is recommended, at least until remission of active PCT has been achieved.
How do you get porphyria?
Most forms of porphyria are inherited. Porphyria can occur if you inherit: A defective gene from one of your parents (autosomal dominant pattern) Defective genes from both parents (autosomal recessive pattern)
What is EPP cleared?
What is EPP Clearance? A series of blood tests are required including HIV, Hepatitis C and Hepatitis B. More information regarding these tests are given on commencing your studies.
What triggers porphyria attacks?
Examples of triggers include:
- Exposure to sunlight.
- Certain medications, including hormone drugs.
- Recreational drugs.
- Dieting or fasting.
- Smoking.
- Physical stress, such as infections or other illnesses.
- Emotional stress.
- Alcohol use.
What part of the body does porphyria affect?
Some types of porphyria, called cutaneous porphyrias, primarily affect the skin. Areas of skin exposed to the sun become fragile and blistered, which can lead to infection, scarring, changes in skin coloring (pigmentation), and increased hair growth.
Who needs EPP clearance?
To avoid any risk to patients, anyone who will be involved in surgery, dentistry and certain other procedures now has to be tested for signs of infection before they can begin such work. What is EPP Clearance? A series of blood tests are required including HIV, Hepatitis C and Hepatitis B.