Protoporphyria, erythropoietic
Erythropoietic Protoporphyria | |
---|---|
Synonyms | N/A |
Pronounce | N/A |
Specialty | N/A |
Symptoms | Photosensitivity, liver dysfunction |
Complications | N/A |
Onset | Childhood |
Duration | Lifelong |
Types | N/A |
Causes | Mutations in the FECH gene |
Risks | N/A |
Diagnosis | Blood test, genetic testing |
Differential diagnosis | N/A |
Prevention | N/A |
Treatment | Beta-carotene, afamelanotide, liver transplantation |
Medication | N/A |
Prognosis | N/A |
Frequency | Rare |
Deaths | N/A |
Erythropoietic Protoporphyria (EPP) is a rare genetic disorder that affects the production of heme, a component of hemoglobin. It is characterized by photosensitivity and, in some cases, liver dysfunction.
Pathophysiology[edit | edit source]
Erythropoietic Protoporphyria is caused by mutations in the FECH gene, which encodes the enzyme ferrochelatase. This enzyme is responsible for the final step in the heme biosynthesis pathway, where it catalyzes the insertion of iron into protoporphyrin IX to form heme. In EPP, reduced activity of ferrochelatase leads to the accumulation of protoporphyrin IX in the erythrocytes, plasma, and skin.
The accumulation of protoporphyrin IX in the skin leads to photosensitivity. When exposed to sunlight, protoporphyrin IX absorbs light energy, which causes damage to surrounding tissues and results in painful skin reactions.
Clinical Presentation[edit | edit source]
The primary symptom of EPP is photosensitivity, which typically presents in early childhood. Patients experience burning, itching, and redness of the skin after even brief exposure to sunlight. Unlike other forms of porphyria, EPP does not usually cause blistering.
In some cases, protoporphyrin IX can accumulate in the liver, leading to cholestasis and progressive liver damage. This can result in liver failure in severe cases.
Diagnosis[edit | edit source]
Diagnosis of EPP is based on clinical symptoms and laboratory tests. A blood test can reveal elevated levels of protoporphyrin IX. Genetic testing can confirm mutations in the FECH gene.
Management[edit | edit source]
Management of EPP focuses on preventing symptoms and managing complications. Patients are advised to avoid sun exposure and use protective clothing and sunscreen.
Pharmacological Treatments[edit | edit source]
Beta-carotene is often used to reduce photosensitivity. It acts as a free radical scavenger and can provide some protection against sunlight.
Afamelanotide, a synthetic analog of alpha-melanocyte-stimulating hormone, has been shown to increase melanin production and provide photoprotection.
Liver Management[edit | edit source]
In cases of liver involvement, regular monitoring of liver function is necessary. In severe cases, liver transplantation may be required.
Prognosis[edit | edit source]
The prognosis for patients with EPP is generally good, especially with proper management of sun exposure. However, those with significant liver involvement may have a more guarded prognosis.
Epidemiology[edit | edit source]
Erythropoietic Protoporphyria is a rare condition, with an estimated prevalence of 1 in 75,000 to 1 in 200,000 individuals. It affects both males and females equally.
See Also[edit | edit source]
External Links[edit | edit source]
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
WikiMD's Wellness Encyclopedia |
Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD