Author/Editor		Marko, Pij B.; Miljković, Jovan; Kansky, Aleksej
Title		Priporočila za obravnavo bolnikov z eritropoetično protoporfirijo
Translated title		Suggestions for monitoring of the erythropoietic protoporphyria patients
Type		članek
Source		In: Miljković J, editor. Zbornik 4. dermatološki dnevi; 2007 okt 19-20; Maribor. Maribor: Univerzitetni klinični center, Oddelek za kožne in spolne bolezni,
Publication year		2007
Volume		str. 145-7
Language		slo
Abstract		Erythropoietic protoporphyria (EPP) is an inherited disorder of porphyrin metabolism in which the activity of ferrochelatase (FECH) is markedly decreased. This defect results clinically in lifelong painful acute photosensitivity of sun-exposed areas, while protoporphyrin accumulation in the liver leads to hepatic manifestations in 1-10 % of patients, with a marked impact on quality of life. The patient is recommended to take contact immediately if the skin condition gets worse, or there is unexplained abdominal pain, or icteric signs. As long as the condition is stable the patient is scheduled once a year for medical psychosocial control.
Summary		Eritropoetična protoporfirija (EPP) je motnja presnove porfirinov, katere vzrok je prirojeno pomanjkanje encima ferokelataze (FECH). EPP je kronična bolezen, ki se ob akutnih poslabšanjih kaže z bolečim in srbečim vnetjem ter otekanjem kože, pri 1-10 % bolnikov pa se lahko pojavijo simptomi in znaki jetrne bolezni, zaradi česar je kvaliteta njihovega življenja pomembno zmanjšana. Poslabšanje kožnega stanja, nepojasnjene bolečine v trebuhu ali zlatenica zahtevajo takojšnjo obravnavo bolnika z EPP, za bolnike s stabilno obliko bolezni pa je priporočen kontrolni pregled enkrat letno.
Descriptors		PRACTICE GUIDELINES