Neu­rofi­bro­mato­sis type 1 : the facts

Friday - - Real Life -

NF-1 is a con­di­tion char­ac­terised by changes in skin colour­ing and the growth of tumours along nerves in the skin, brain, and other parts of the body.

The signs and symp­toms vary widely amongst those af­fected.

Begin­ning in early child­hood, al­most all suf­fer­ers of NF-1 have mul­ti­ple cof­fee­coloured spots on the skin. These spots in­crease in size and num­ber, as the in­di­vid­ual grows older.

Most adults with NF-1 de­velop neu­rofi­bro­mas, which are be­nign tumours, usu­ally on or un­der the skin. Peo­ple with the con­di­tion have an in­creased risk of de­vel­op­ing other can­cers, in­clud­ing brain tumours and leukaemia. Ad­di­tional symp­toms in­clude high blood pres­sure, an un­usu­ally large head and skele­tal ab­nor­mal­i­ties. Although most have nor­mal in­tel­li­gence, learn­ing dis­abil­i­ties oc­cur fre­quently in af­fected in­di­vid­u­als.

There is no cure; in­stead, symp­toms and com­pli­ca­tions are man­aged through pro­ce­dures such as surgery to re­move tumours and im­prove bone ab­nor­mal­i­ties, med­i­ca­tion to con­trol se­condary con­di­tions such as high blood pres­sure, and ther­apy for be­havioural prob­lems.

In many cases mon­i­tor­ing and treat­ment can help suf­fer­ers live a full life. How­ever, there is a risk of de­vel­op­ing prob­lems such as strokes, which can re­duce life ex­pectancy by up to 15 years.

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