Sclerosi sistemica o sclerodermia
Table of Contents
Che cos’è la sclerosi sistemica ?
La sclerosi sistemica o sclerodermiaè una malattia complessa a patogenesi autoimmune ed è caratterizzata da fibrosi cutanea, da alterazioni vascolari (piccole arterie e capillari periferici e viscerali) e dalla presenza di autoanticorpi.
Due sono le principali forme cliniche:
- Forma cutanea limitata
- Forma cutanea diffusa
La forma cutanea diffusaè rapidamente progressiva e la fibrosi arriva ad interessare aree ampie di cute oltre agli organi interni. Virtualmente qualsiasi organo può essere colpito;sono interessati principalmente polmone, esofago, cuore e rene.
Nella forma cutanea limitatala fibrosi interessale mani fino eventualmente agli avambracci e volto, il coinvolgimento degli organi interni è più limitato, con interessamento polmonare caratterizzato da una vasculopatia polmonare.
Fenomeno di Raynaud
In entrambe le forme di sclerosi sistemica è praticamente sempre presente ilfenomeno di Raynaudche in genere precede di mesi o anche di anni la comparsa della fibrosi.Il fenomeno di Raynaud è un episodio di vasocostrizione critica in genere scatenato dal freddo, che causa pallore e/o cianosi improvvisi delle estremità distali delle dita, che diventano fredde e ipoestesiche. Seguono eritrocianosi e iperemia reattiva.Il fenomeno di Raynaud, pur essendo presente in oltre il 90% dei pazienti con sclerosi sistemica,non è di per sé diagnosticoperché può comparire anche come isolato (fenomeno di Raynaud idiopatico primario) o in associazione a vasculopatie obliteranti o di altre malattie autoimmuni.
Epidemiologia
Lasclerosi sistemica è una malattia raracon una prevalenza di circa 50-300 casi/milione;questo valore sarebbe in aumento negli ultimi decenni.Le donne sono più colpite degli uomini. La malattia insorge in genere nel quarto-quinto decennio di vita. Il fenomeno di Raynaud può comparire anche 10 anni prima dell’esordio della malattia, soprattutto nella forma limitata della sclerosi sistemica. La sclerosi sistemica presenta aggregazione familiare anche con altre malattie autoimmuni anche se le basi molecolari non sono note. Alcune forme cliniche o identiche alla sclerosi sistemica sono scatenate dalle esposizione a fattori ambientali quali virus e farmaci, cloruro di vinile e silicio. Episodi a tipo epidemico sono stati descritti in passato per tossine contaminanti preparati di triptofano.
Quali sono i sintomi della sclerosi sistemica?
La sclerosi sistemica ha spesso un esordio insidioso, con edema e quindi fibrosi simmetrica della cute alle dita egli avambracci e possibile estensione lenta in senso centripeto al tronco e al volto. Questi fenomeni sono praticamente sempre preceduti e accompagnati dal fenomeno di Raynaud e seguiti di solito entro un tempo molto variabile, più rapidi in genere per la forma diffusa e più lento per quella limitata da manifestazioni viscerali.
- Alterazioni cutanee: edema seguito da fibrosi cutanea (soprattutto estremità, faccia tronco), teleangectasie, calcinosi; fenomeno di Raynaud.
- Artralgiee/o artrite.
- Gastroenteriche: ipomotilità esofagea; ipofunzione intestinale.
- Polmonari: fibrosi, ipertensione polmonare, alveolite.
- Cardiache:pericardite, cardiomiopatia, alterazioni della conduzione.
- Renale: ipertensione,insufficienza renale.
Diagnosi
- Anamnesied esame obiettivo, con particolare attenzione alla pressione arteriosa (suggerisce una patologia renale).
- Esami di laboratorio: VES, ANA (pattern anti-centromero associato a SSc cutanea limitata; tra gli anticorpi specifici si può includere l’anti-topoisomerasi I; esame delle urine.
- Indagini radiografiche: radiografia del torace, tubo digerente; la radiografia delle mani può dimostrare riassorbimento osseo delle falangi distali e calcinosi.
- Altri esami:ECG, ecografia, prove di funzionalità respiratoria; da considerare la biopsia cutanea.
Terapia
La sclerosi sistemica risponde poco o nulla alle terapie immunosoppressive. La terapia è spesso una terapia supportiva, modulata in relazione al tipo e la gravità del coinvolgimento d’organo. Il trattamento del fenomeno di Raynaud basata in primo luogo su misure ambientali:
- Va adeguato lo stile di vitaevitando l’esposizione a cambiamenti repentini di temperatura e l’uso di agenti simpaticomimetici;
- E’ necessario anche evitare il fumo di sigaretta, l’uso di farmaci che contengono caffeina ed ergotamina. La terapia farmacologica si basa sulla somministrazione di vasodilatatori, dei quali sono di efficacia documentati calcio-antagonisti, per esempio nifedipina a lento rilascio.
- L ’EMA (aprile 2020) ha approvato la terapia con un nuovo farmaco, il nintedanib, per il trattamento della malattia interstiziale polmonare associata a sclerosi sistemica (SSc-ILD).
Articoli correlati:
Artrite reumatoide: sintomi, diagnosi, trattamento
Sindrome di Sjögren: sintomi e cause
Teleangectasia emorragica ereditaria (Rendu-Osler)
(Bibl. Rugarli, Medicina interna sistemica, Caludio Rugarli, Edra S.P.A settima edizione)
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