Free screen­ing tests, health­care ser­vices for MPS dis­or­der

Tehran Times - - SOCIETY -

TEHRAN — Iran’s Min­istry of Health has planned on per­form­ing screen­ing test for mu­copolysac­cha­ri­doses (MPS) to pro­vide the pa­tients with free of charge health­care ser­vices, ISNA re­ported on Fri­day.

MPS are a group of meta­bolic dis­or­ders which are rare, life-lim­it­ing, pro­gres­sive, ge­netic con­di­tions caused by the ab­sence or mal­func­tion­ing of lyso­so­mal en­zymes needed to break down mol­e­cules called gly­cosamino­gly­cans.

Pa­tients with mu­copolysac­cha­ri­do­sis ei­ther do not pro­duce enough of one of the eleven en­zymes re­quired to break down sugar chains into sim­pler mol­e­cules, or they pro­duce en­zymes that do not work prop­erly. Over time, these gly­cosamino­gly­cans col­lect in the cells, blood and con­nec­tive tis­sues. The re­sult is per­ma­nent, pro­gres­sive cel­lu­lar dam­age which af­fects ap­pear­ance, phys­i­cal abil­i­ties, or­gan and sys­tem func­tion­ing, and, in most cases, men­tal de­vel­op­ment.

Some 8 cen­ters are se­lected for the pa­tients na­tion­wide to un­dergo screen­ing tests, so that in case they are di­ag­nosed with the disease, they will be reg­is­tered on the Health Min­istry list, Me­hdi Shad­noush, an of­fi­cial with the min­istry said.

Shad­noush said that the disease is costly and the pa­tients must be sup­ported re­gard­ing dif­fer­ent as­pects of their lives, so “we” need to ex­actly know how many pa­tients are suf­fer­ing the disease and which type of the disease they are di­ag­nosed with.

He also high­lighted that as planned in­di­vid­u­als with MPS will be di­ag­nosed by the end of the cur­rent [Ira­nian cal­en­dar] month of Mehr (Oc­to­ber 22) and their med­i­cal records will be com­pleted by the end of the au­tumn.

MPS is in­cluded in the Min­istry of Health rare dis­eases list and pa­tients can ben­e­fit fi­nan­cial sup­ports pro­vided by the min­istry, Shad­noush added.

He also said that the ex­act num­ber of pa­tients with MPS is not known now and will be an­nounced once the reg­istry is com­pleted.

Com­ment­ing on the ex­penses in­curred on the min­istry to pro­vide MPS pa­tients with med­i­ca­tions Shad­noush ex­plained that cur­rently the govern­ment spends 15 bil­lion ri­als (nearly $350,000) an­nu­ally for each pa­tient’s medicine.

Af­ter the reg­istry is com­pleted pa­tients with spe­cific types of the dis­or­der can re­ceive bone mar­row trans­plan­ta­tion as well as re­ha­bil­i­ta­tion ser­vices in­clud­ing oc­cu­pa­tional and phys­i­cal ther­apy and med­i­ca­tions, he added.

Ideally speak­ing, Shad­noush sug­gested, by screen­ing the pa­tients we are also aim­ing to iden­tify in­di­vid­u­als who are car­ry­ing a de­fec­tive al­lele to avoid hav­ing new cases of the dis­or­der in the fu­ture.

More­over, in case we man­age to con­duct bone mar­row trans­plan­ta­tion for the pa­tients born with the dis­or­der, es­pe­cially those un­der age two, they are more likely to have a fairly nor­mal life, he con­cluded.

MPS singes and symp­toms

Ac­cord­ing to raredis­eases.org in­di­vid­u­als with MPS dis­or­ders share many sim­i­lar symp­toms such as mul­ti­ple or­gan in­volve­ment, dis­tinc­tive “coarse” fa­cial fea­tures, and ab­nor­mal­i­ties of the skele­ton es­pe­cially joint prob­lems. Ad­di­tional find­ings in­clude short stature, heart ab­nor­mal­i­ties, breath­ing ir­reg­u­lar­i­ties, liver and spleen en­large­ment and/or neu­ro­log­i­cal ab­nor­mal­i­ties.

In most cases of MPS, af­fected in­fants ap­pear nor­mal at birth and symp­toms be­come ap­par­ent around the age of one or two. Ini­tial symp­toms may in­clude fre­quent colds, runny nose, in­fec­tions, growth de­lays, or mild de­vel­op­men­tal de­lays. Mild forms of these dis­or­ders may not be­come ap­par­ent un­til child­hood or ado­les­cence.

The preva­lence of all forms of mu­copolysac­cha­ri­do­sis is es­ti­mated to be one in 25,000 births. How­ever, be­cause mu­copolysac­cha­ri­doses, es­pe­cially the milder forms of the dis­eases, of­ten go un­rec­og­nized, these dis­or­ders are un­der-di­ag­nosed or mis­di­ag­nosed, mak­ing it dif­fi­cult to de­ter­mine their true fre­quency in the gen­eral pop­u­la­tion.

Surgery may be used to treat a va­ri­ety of symp­toms as­so­ci­ated with mu­copolysac­cha­ri­do­sis, in­clud­ing carpal tun­nel syn­drome, skele­tal mal­for­ma­tions, and her­nias.

Ge­netic coun­sel­ing will be of ben­e­fit for af­fected in­di­vid­u­als and their fam­i­lies. Other treat­ment is symp­to­matic and sup­port­ive.

Ideally speak­ing, by screen­ing the pa­tients we are also aim­ing to iden­tify in­di­vid­u­als who are car­ry­ing a de­fec­tive al­lele to avoid hav­ing new cases of the dis­or­der in the fu­ture.

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