UROPORFIRIA ERITROPOIETICA fa riferimento a PORFIRIE
Gruppo di malattie caratterizzate da eccessiva produzione di porfirine o dei loro precursori derivanti da difetti del metabolismo delle emoporfirine. Se ne distinguono 3 grossi gruppi: forma eritropoietica (porfiria eritropoietica), forma epatica (porfiria epatica) ed eritroepatica (porfiria eritroepatica) a seconda delle sedi della anomala sintesi delle porfirine. Medline Thesaurus
Porfiria congenita eritropoietica<
Aspetti ematologici
La caratteristica tipica della porfiria congenita eritropoietica è l'emolisi che può variare da lieve a moderata. L'emolisi è presumibilmente dovuta all'accumulo di uroporfirina I negli eritrociti. Si sviluppa una splenomegalia successiva all'aumentato apporto di eritrociti anomali dal circolo, che può contribuire all'anemia e può anche esitare in leucopenia e tombocitopenia. Quest'ultima è talvolta associata ad importante emorragia e la splenectomia può essere di beneficio in tali casi. L'anemia successiva all'emolisi può essere grave se il midollo osseo non compensa e alcun pazienti gravi sono trasfusione-dipendenti.
Manifestazioni dermatologiche
In molti casi di porfiria congenita eritropoietica, la fotosensibilità cutanea si presenta generalmente nella prima infanzia e si manifesta con l'aumentata friabilità cutanea e la formazione di vescicole nell'epidermide delle mani, del volto e di altre aree esposte al sole. Le vescicole e le bolle contengono siero e sono esposte alla rottura e all'infezione. La cute può essere ispessita, con aree di ipo e di iperpigmentazione. L'ipertricosi della faccia e delle estremità è spesso marcata. La luce solare, altre fonti di raggi ultravioletti e i microtraumi della pelle aumentano la gravità delle manifestazioni cutanee. Successivamente alla comparsa di vescicole ricorrenti e di infezioni secondarie, si possono sviluppare cicatrici e sfregi cutanei, così come perdita delle dita e l'alterazione dei lineamenti del volto a carico delle palpebre, naso e orecchie. I pazienti con esordio della patologia più tardivamente o nell'età adulta presentano sintomatologia più lieve e spesso presentano solo le manifestazioni cutanee della malattia.
Altre caratteristiche
Le cicatrici corneali possono causare cecità. Il deposito di profirine nei denti determina un colore rosso bruciato alla luce naturale denominato eritrodontia. I denti possono essere fluorescenti se esposti a raggi ultravioletti a lunga lunghezza d'onda. Si può anche verificare il deposito di porfirine nell'osso ed è stata descritta la perdita di tessuto osseo dovuta alla demineralizzazione o all'espansione del midollo osseo iperplastico.
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