How do you know if you have EPP?
How do you know if you have EPP?
EPP causes skin pain on exposure to sunlight, most often on the tops of the hands and feet, face and ears. Pain can be severe and last days after sun exposure. There may not be anything to see at the time. Prolonged exposure can result in some redness and swelling, and uncommonly in blistering and crusting.
What EPP feels like?
Clinically, EPP is characterized by cutaneous photosensitivity manifesting early in life. Acute photosensitivity episodes include burning, stinging, and pruritus in sun-exposed skin, particularly on the nose, cheeks, and dorsal aspects of the hands, followed by erythema, edema, and wax-like scarring.
How do you treat EPP?
Successful bone marrow transplantation with or without liver transplantation, depending upon the severity of the liver disease, is considered the definitive treatment for EPP.
Do I have EPP?
Diagnosis. EPP is generally suspected by the presence of acute photosensitivity of the skin and can be confirmed by detection of a plasmatic fluorescence peak at 634 nm. It is also useful to find increased levels of protoporphyrin in feces and the demonstration of an excess of free protoporphyrin in erythrocytes.
What is Hepatoerythropoietic porphyria?
Hepatoerythropoietic porphyria (HEP) is an extremely rare genetic disorder characterized by deficiency of the enzyme, uroporphyrinogen decarboxylase. This deficiency is caused by mutations of both copies of a person’s UROD gene, which means that the disorder is inherited as an autosomal recessive trait.
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 erythropoietic Protoporphyria?
Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder caused by a deficiency of the enzyme ferrochelatase (FECH), which results from changes (mutations) in the FECH gene.
How many people in the US have EPP?
Approximately 10,000 people globally are affected by EPP, with an estimated 4,000 in the US.
What is congenital erythropoietic porphyria?
Congenital erythropoietic porphyria (CEP) is a very rare inherited metabolic disorder resulting from the deficient function of the enzyme uroporphyrinogen III synthase (UROS), the fourth enzyme in the heme biosynthetic pathway.
What is erythropoietic organ?
(eh-RITH-roh-poy-EE-sis) The formation of red blood cells in blood-forming tissue. In the early development of a fetus, erythropoiesis takes place in the yolk sac, spleen, and liver. After birth, all erythropoiesis occurs in the bone marrow.
Why is porphyria called the vampire disease?
Porphyria cutanea tarda (PCT) is a type of porphyria or blood disorder that affects the skin. PCT is one of the most common types of porphyria. It’s sometimes referred to colloquially as vampire disease. That’s because people with this condition often experience symptoms following exposure to sunlight.
What is EP illness?
Junctional epidermolysis bullosa Epidermolysis bullosa (ep-ih-dur-MOL-uh-sis buhl-LOE-sah) is a group of rare diseases that cause fragile, blistering skin. The blisters may appear in response to minor injury, even from heat, rubbing, scratching or adhesive tape.
How to tell if you have erythropoietic protoporphyria?
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.
What are the symptoms of acute intermittent porphyria?
Acute intermittent porphyria is the common form of acute porphyria. Signs and symptoms of acute porphyria may include: Muscle pain, tingling, numbness, weakness or paralysis Mental changes, such as anxiety, confusion, hallucinations, disorientation or paranoia
Can a lab test tell if you have porphyria?
Many signs and symptoms of porphyria are similar to those of other more common diseases. Also, because porphyria is rare, it can be more difficult to diagnose. Lab tests are required to make a definitive diagnosis of porphyria and to determine which form of the disease you have.
What are some of the treatment options for porphyria?
Treatment may include: Injections of hemin, a medication that is a form of heme, to limit the body’s production of porphyrins Intravenous sugar (glucose), or sugar taken by mouth, if able, to maintain an adequate intake of carbohydrates Hospitalization for treatment of symptoms, such as severe pain, vomiting, dehydration or problems breathing
