Scleroderma Facts

• Scleroderma is an autoimmune disease whose symptoms typically include some or all of the following: sensitivity to cold in extremities, thickening of the skin, shortness of breath, difficulty swallowing, joint stiffness and pain, and damage to internal organs. • Autoimmune diseases, which affect more than 50 million Americans, are the third leading cause of death in the United States. • 300,000 cases of scleroderma are estimated in the United States. • 80% of scleroderma patients are female. • Scleroderma typically strikes between the ages of 25 and 55. • 95% of scleroderma cases begin with Raynaud Phenomenon (hands and feet abnormally sensitive to cold.) • Federal research funding for scleroderma lags behind other diseases of similar prevalence. • Misdiagnosis is common. It can take three years or more for an individual to be diagnosed and receive appropriate treatment, often due to lack of familiarity with the disease among medical professionals.

The Scleroderma Foundation is here to help!

• The Scleroderma Foundation is a 501(c)(3) national non-profit organization serving the interests of persons with scleroderma. The Foundation’s 22 Chapters and more than 145 Support Groups nationwide help carry out its three-fold mission of support, education, and research. The Scleroderma Foundation is the leading non-profit support of scleroderma research. • The Scleroderma Foundation has granted over $18.6 million in research grants since 1989 and continues to budget an average of $1 million annually for peer reviewed research funding -our single largest budgeted expense.

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GLDPHWHU6RPHSHRSOHKDYHRQO\RQHRUDIHZVXFK narrow in order to maintain central body warmth. with the disease; and tips about how to manage WKLFNHQLQJRQO\LQYROYHVWKHKDQGVDQGIRUHDUPVORZHU OLYLQJZLWKVFOHURGHUPD .LGQH\LQYROYHPHQWRFFXUVPRUHIUHTXHQWO\LQWKH SDWFKHVZKLOHRWKHUVKDYH PXOWLSOHRQHVDOORYHUWKH +RZHYHULQ66FWKHEORRGYHVVHOORVHVLWVQRUPDO OHJVDQGIHHW,QGLIIXVHFXWDQHRXVGLVHDVHWKHKDQGV diffuse than in the limited form of SSc, especially in ERG\7KHSDWFKHVFDQEHOLJKWHURUGDUNHUWKDQWKH method of relaxation, becoming prone to episodes of ‡ ,QIRUPDWLRQDQGHGXFDWLRQDORIIHULQJVIURP\RXU forearms, the upper arms, thighs, or trunk are affected. WKHILUVWILYH\HDUVSRVWGLDJQRVLVDQGW\SLFDOO\WDNHV surrounding skin and thus tend to stand out. Also YDVRVSDVP FRQWUDFWLRQRIWKHPXVFOHZDOOWKDWFORVHV local chapter. 7KHIDFHFDQEHDIIHFWHGLQERWKIRUPV7KHLPSRUWDQFH the form of a sudden increase in blood pressure. As there is usually a loss of the fatty layer underneath the WKHYHVVHO 7KHYHVVHOVEHFRPHRYHUO\VHQVLWLYHWR of making the distinction between limited and diffuse ‡ 'LVFRXQWHGUHJLVWUDWLRQIHHVWRWKHDQQXDO is the case with usual high blood pressure, there are morphea spots. Morphea, as well as the other forms of GLVHDVHLVWKDWWKHH[WHQWRIVNLQLQYROYHPHQWWHQGVWR cold temperatures and other stimuli like emotional National Patient Education Conference. QRV\PSWRPVDWILUVW+RZHYHULIXQGHWHFWHG DQG localized scleroderma, does not affect internal organs. UHIOHFWWKHGHJUHHRILQWHUQDORUJDQLQYROYHPHQW stress, which results in Raynaud attacks. untreated, this high blood pressure can damage the Please consider joining the Scleroderma Scleroderma sine sclerosis refers to the unusual kidneys in a matter of weeks, which is why it is called Linear scleroderma 7KHWKLFNHQHGVNLQLQVFOHURGHUPDLVFDXVHGE\ Foundation today. A membership form is RFFXUUHQFH RQO\DERXWRIDOOFDVHV LQZKLFKWKHUH VFOHURGHUPDUHQDOFULVLV7KHNH\WRPDQDJHPHQW Linear scleroderma consists of a line of thickened skin RYHUSURGXFWLRQRIFROODJHQZKLFKLVWKHEDVLF attached on the reverse side of this panel. LVHYLGHQFHRILQWHUQDORUJDQFRPSOLFDWLRQVRI66FEXWQR DQGSUHYHQWLRQRISHUPDQHQWNLGQH\GDPDJHLVHDUO\ GRZQDQDUPRUOHJRQRQHVLGH7KHIDWW\OD\HUXQGHU component of scar tissue. Abnormal accumulation of skin thickening. detection and treatment with ACE inhibitors. the skin can be lost, so the affected limb is thinner than collagen is called fibrosis. Collagen is a normal part RIVNLQDQGPDQ\RUJDQV+RZHYHULQVFOHURGHUPD ,QUDUHFDVHV66FUXQVLQIDPLOLHVDOWKRXJKIRUWKH Our Three-Fold Mission Is the balance of collagen formation and collagen break- YDVWPDMRULW\RISDWLHQWVWKHUHLVQRRWKHUIDPLO\ SCLERODERMA: down is altered so that too much collagen builds up. PHPEHUDIIHFWHG6FOHURGHUPDFDQDIIHFWVRPH1DWLYH Support, Education and ,QORFDOL]HGVFOHURGHUPDWKLVSURFHVVLVFRQILQHGWR $PHULFDQVDQG$IULFDQ$PHULFDQVPRUHVHYHUHO\WKDQ Research Overview and Causes VRPHDUHDVRIWKHVNLQ,Q66FH[FHVVFROODJHQFDXVHV Caucasians. fibrosis in the heart, lungs, and the muscles that line :RPHQDUHPRUHOLNHO\WRJHW66F(QYLURQPHQWDO WKH*,WUDFW factors may trigger the disease in the susceptible Collagen is made by fibroblasts (a type of cell that is host. For example, silica exposure (as in coal mining SDUWRIDOPRVWHYHU\WLVVXHLQWKHERG\ ZKLFKFDQEH RUVDQGEODVWLQJ KDVEHHQDVVRFLDWHGZLWKV\VWHPLF SURYRNHGRUDFWLYDWHGWRPDNHPRUHFROODJHQ8QGHU scleroderma and certain drugs can cause scleroderma- normal circumstances, the production of a scar is the like reactions. Localized scleroderma is more common ODVWVWHSLQKHDOLQJIROORZLQJDQLQMXU\RUDQLQIHFWLRQ in children, whereas SSc is more common in adults. for example, the production of a scar following +RZHYHUERWKFDQRFFXUDWDQ\DJH DFXWLQWKHVNLQ)LEUREODVWVDUHDFWLYDWHGE\WKH immune system to produce collagen as part of the PUTTING IT ALL TOGETHER QRUPDOKHDOLQJSURFHVV+RZHYHULQ66FILEUREODVWV Research suggests that the susceptible host for DUHDFWLYDWHGIRUQRDSSDUHQWUHDVRQ7KHUHVXOWLQJ scleroderma is someone with a genetic predisposition scar causes tissue damage, decreased flexibility, and WRLQMXU\IURPVRPHH[WHUQDODJHQWVXFKDVDYLUDORU PDOIXQFWLRQRIWKHRUJDQLQYROYHG EDFWHULDOLQIHFWLRQRUDVXEVWDQFHLQWKHHQYLURQPHQW 7KHWKLUGSUREOHPLQ66FLVWKHG\VUHJXODWLRQRIWKH ,QORFDOL]HGVFOHURGHUPDWKHUHVXOWLQJGDPDJHLV immune system resulting in an immune attack on the FRQILQHGWRWKHVNLQ,Q66FWKHSURFHVVFDXVHVLQMXU\ body’s own tissues. Some of these autoantibodies are WREORRGYHVVHOVRULQGLUHFWO\SHUWXUEVWKHEORRG IRXQGLQVHYHUDODXWRLPPXQHGLVHDVHVZKLOHRWKHUV YHVVHOVE\DFWLYDWLQJWKHLPPXQHV\VWHP)LEUREODVWV are specific for a particular disease. DUHDFWLYDWHGDVSDUWRIWKHUHVSRQVHWRWLVVXHLQMXU\ ,QWHUDFWLQJQHWZRUNVRILPPXQHLQIODPPDWLRQDQG 2QHZD\WRGHWHFWDFWLYDWLRQRIWKHLPPXQHV\VWHP LQMXU\IURPLQDGHTXDWHEORRGVXSSO\GULYHWKHSURFHVV is to find antibodies (proteins made by immune cells, so it becomes chronic. Collagen made in excess WKHEXOOHWVRIRXULPPXQHDUP\ LQWKHEORRGWKDW interferes with normal organ function, sometimes WDUJHWVWKHERG\·VRZQWLVVXH DXWRDQWLERGLHV $YHU\ OHDGLQJWRRUJDQIDLOXUH,QPDQ\FDVHVWKHSURFHVV specific set of autoantibodies is found in scleroderma. JRHVLQWRUHPLVVLRQDIWHUVRPH\HDUVRIDFWLYLW\ 7KHVHDXWRDQWLERGLHVFDQEHWKRXJKWRIDVIRRWSULQWV Research continues to assemble the pieces of the of the scleroderma disease process because they scleroderma puzzle to identify the susceptibility genes, DUHRQO\PDGHXQGHUYHU\VSHFLILFFRQGLWLRQV,W WRILQGWKHH[WHUQDOWULJJHUDQGFHOOXODUSURWHLQVGULYLQJ is not clear what role these autoantibodies play in fibrosis, and to interrupt the networks that perpetuate GDPDJLQJWKHEORRGYHVVHOVRUVWLPXODWLQJFROODJHQ the disease. RYHUSURGXFWLRQ 3OHDVHQRWHWKDWWKLVEURFKXUHLVSURYLGHGIRU HGXFDWLRQDOSXUSRVHVRQO\,WLVQRWLQWHQGHGWR WHO GETS SCLERODERMA? $SULO VXEVWLWXWHIRULQIRUPHGPHGLFDODGYLFH 7KHUHDUHPDQ\FOXHVWKDWGHILQHVXVFHSWLELOLW\WR A publication of GHYHORSVFOHURGHUPD$JHQHWLFEDVLVIRUWKHGLVHDVH The Scleroderma Foundation thanks Maureen Mayes, M.D., Scleroderma Foundation has been suggested by the fact that SSc is more M.P.H., University of Texas/Houston and John Varga, 5RVHZRRG'ULYH6XLWH 'DQYHUV0$ common among patients whose family members M.D., Northwestern University, for their assistance in the +23(  ZZZVFOHURGHUPDRUJ KDYHRWKHUDXWRLPPXQHGLVHDVHV VXFKDVOXSXV  preparation of this brochure. www.facebook.com/sclerodermaUS www.twitter.com/scleroderma RIVNLQDQGPDQ\RUJDQV+RZHYHULQVFOHURGHUPD ,QUDUHFDVHV66FUXQVLQIDPLOLHVDOWKRXJKIRUWKH Our Three-Fold Mission Is the balance of collagen formation and collagen break- YDVWPDMRULW\RISDWLHQWVWKHUHLVQRRWKHUIDPLO\ SCLERODERMA: down is altered so that too much collagen builds up. PHPEHUDIIHFWHG6FOHURGHUPDFDQDIIHFWVRPH1DWLYH Support, Education and ,QORFDOL]HGVFOHURGHUPDWKLVSURFHVVLVFRQILQHGWR $PHULFDQVDQG$IULFDQ$PHULFDQVPRUHVHYHUHO\WKDQ Research Overview and Causes VRPHDUHDVRIWKHVNLQ,Q66FH[FHVVFROODJHQFDXVHV Caucasians. fibrosis in the heart, lungs, and the muscles that line :RPHQDUHPRUHOLNHO\WRJHW66F(QYLURQPHQWDO WKH*,WUDFW factors may trigger the disease in the susceptible Collagen is made by fibroblasts (a type of cell that is host. For example, silica exposure (as in coal mining SDUWRIDOPRVWHYHU\WLVVXHLQWKHERG\ ZKLFKFDQEH RUVDQGEODVWLQJ KDVEHHQDVVRFLDWHGZLWKV\VWHPLF SURYRNHGRUDFWLYDWHGWRPDNHPRUHFROODJHQ8QGHU scleroderma and certain drugs can cause scleroderma- normal circumstances, the production of a scar is the like reactions. Localized scleroderma is more common ODVWVWHSLQKHDOLQJIROORZLQJDQLQMXU\RUDQLQIHFWLRQ in children, whereas SSc is more common in adults. for example, the production of a scar following +RZHYHUERWKFDQRFFXUDWDQ\DJH DFXWLQWKHVNLQ)LEUREODVWVDUHDFWLYDWHGE\WKH immune system to produce collagen as part of the PUTTING IT ALL TOGETHER QRUPDOKHDOLQJSURFHVV+RZHYHULQ66FILEUREODVWV Research suggests that the susceptible host for DUHDFWLYDWHGIRUQRDSSDUHQWUHDVRQ7KHUHVXOWLQJ scleroderma is someone with a genetic predisposition scar causes tissue damage, decreased flexibility, and WRLQMXU\IURPVRPHH[WHUQDODJHQWVXFKDVDYLUDORU PDOIXQFWLRQRIWKHRUJDQLQYROYHG EDFWHULDOLQIHFWLRQRUDVXEVWDQFHLQWKHHQYLURQPHQW 7KHWKLUGSUREOHPLQ66FLVWKHG\VUHJXODWLRQRIWKH ,QORFDOL]HGVFOHURGHUPDWKHUHVXOWLQJGDPDJHLV immune system resulting in an immune attack on the FRQILQHGWRWKHVNLQ,Q66FWKHSURFHVVFDXVHVLQMXU\ body’s own tissues. Some of these autoantibodies are WREORRGYHVVHOVRULQGLUHFWO\SHUWXUEVWKHEORRG IRXQGLQVHYHUDODXWRLPPXQHGLVHDVHVZKLOHRWKHUV YHVVHOVE\DFWLYDWLQJWKHLPPXQHV\VWHP)LEUREODVWV are specific for a particular disease. DUHDFWLYDWHGDVSDUWRIWKHUHVSRQVHWRWLVVXHLQMXU\ ,QWHUDFWLQJQHWZRUNVRILPPXQHLQIODPPDWLRQDQG 2QHZD\WRGHWHFWDFWLYDWLRQRIWKHLPPXQHV\VWHP LQMXU\IURPLQDGHTXDWHEORRGVXSSO\GULYHWKHSURFHVV is to find antibodies (proteins made by immune cells, so it becomes chronic. Collagen made in excess WKHEXOOHWVRIRXULPPXQHDUP\ LQWKHEORRGWKDW interferes with normal organ function, sometimes WDUJHWVWKHERG\·VRZQWLVVXH DXWRDQWLERGLHV $YHU\ OHDGLQJWRRUJDQIDLOXUH,QPDQ\FDVHVWKHSURFHVV specific set of autoantibodies is found in scleroderma. JRHVLQWRUHPLVVLRQDIWHUVRPH\HDUVRIDFWLYLW\ 7KHVHDXWRDQWLERGLHVFDQEHWKRXJKWRIDVIRRWSULQWV Research continues to assemble the pieces of the of the scleroderma disease process because they scleroderma puzzle to identify the susceptibility genes, DUHRQO\PDGHXQGHUYHU\VSHFLILFFRQGLWLRQV,W WRILQGWKHH[WHUQDOWULJJHUDQGFHOOXODUSURWHLQVGULYLQJ is not clear what role these autoantibodies play in fibrosis, and to interrupt the networks that perpetuate GDPDJLQJWKHEORRGYHVVHOVRUVWLPXODWLQJFROODJHQ the disease. RYHUSURGXFWLRQ 3OHDVHQRWHWKDWWKLVEURFKXUHLVSURYLGHGIRU HGXFDWLRQDOSXUSRVHVRQO\,WLVQRWLQWHQGHGWR WHO GETS SCLERODERMA? $SULO VXEVWLWXWHIRULQIRUPHGPHGLFDODGYLFH 7KHUHDUHPDQ\FOXHVWKDWGHILQHVXVFHSWLELOLW\WR A publication of GHYHORSVFOHURGHUPD$JHQHWLFEDVLVIRUWKHGLVHDVH The Scleroderma Foundation thanks Maureen Mayes, M.D., Scleroderma Foundation has been suggested by the fact that SSc is more M.P.H., University of Texas/Houston and John Varga, 5RVHZRRG'ULYH6XLWH 'DQYHUV0$ common among patients whose family members M.D., Northwestern University, for their assistance in the +23(  ZZZVFOHURGHUPDRUJ KDYHRWKHUDXWRLPPXQHGLVHDVHV VXFKDVOXSXV  preparation of this brochure. www.facebook.com/sclerodermaUS www.twitter.com/scleroderma RIVNLQDQGPDQ\RUJDQV+RZHYHULQVFOHURGHUPD ,QUDUHFDVHV66FUXQVLQIDPLOLHVDOWKRXJKIRUWKH Our Three-Fold Mission Is the balance of collagen formation and collagen break- YDVWPDMRULW\RISDWLHQWVWKHUH LVQRRWKHUIDPLO\ SCLERODERMA: down is altered so that too much collagen builds up. PHPEHUDIIHFWHG6FOHURGHUPDFDQDIIHFWVRPH1DWLYH Support, Education and ,QORFDOL]HGVFOHURGHUPDWKLVSURFHVVLVFRQILQHGWR $PHULFDQVDQG$IULFDQ$PHULFDQVPRUHVHYHUHO\WKDQ Research Overview and Causes VRPHDUHDVRIWKHVNLQ,Q66FH[FHVVFROODJHQFDXVHV Caucasians. fibrosis in the heart, lungs, and the muscles that line :RPHQDUHPRUHOLNHO\WRJHW66F(QYLURQPHQWDO WKH*,WUDFW factors may trigger the disease in the susceptible Collagen is made by fibroblasts (a type of cell that is host. For example, silica exposure (as in coal mining SDUWRIDOPRVWHYHU\WLVVXHLQWKHERG\ ZKLFKFDQEH RUVDQGEODVWLQJ KDVEHHQDVVRFLDWHGZLWKV\VWHPLF SURYRNHGRUDFWLYDWHGWRPDNHPRUHFROODJHQ8QGHU scleroderma and certain drugs can cause scleroderma- normal circumstances, the production of a scar is the like reactions. Localized scleroderma is more common ODVWVWHSLQKHDOLQJIROORZLQJDQLQMXU\RUDQLQIHFWLRQ in children, whereas SSc is more common in adults. for example, the production of a scar following +RZHYHUERWKFDQRFFXUDWDQ\DJH DFXWLQWKHVNLQ)LEUREODVWVDUHDFWLYDWHGE\WKH immune system to produce collagen as part of the PUTTING IT ALL TOGETHER QRUPDOKHDOLQJSURFHVV+RZHYHULQ66FILEUREODVWV Research suggests that the susceptible host for DUHDFWLYDWHGIRUQRDSSDUHQWUHDVRQ7KHUHVXOWLQJ scleroderma is someone with a genetic predisposition scar causes tissue damage, decreased flexibility, and WRLQMXU\IURPVRPHH[WHUQDODJHQWVXFKDVDYLUDORU PDOIXQFWLRQRIWKHRUJDQLQYROYHG EDFWHULDOLQIHFWLRQRUDVXEVWDQFHLQWKHHQYLURQPHQW 7KHWKLUGSUREOHPLQ66FLVWKHG\VUHJXODWLRQRIWKH ,QORFDOL]HGVFOHURGHUPDWKHUHVXOWLQJGDPDJHLV immune system resulting in an immune attack on the FRQILQHGWRWKHVNLQ,Q66FWKHSURFHVVFDXVHVLQMXU\ body’s own tissues. Some of these autoantibodies are WREORRGYHVVHOVRULQGLUHFWO\SHUWXUEVWKHEORRG IRXQGLQVHYHUDODXWRLPPXQHGLVHDVHVZKLOHRWKHUV YHVVHOVE\DFWLYDWLQJWKHLPPXQHV\VWHP)LEUREODVWV are specific for a particular disease. DUHDFWLYDWHGDVSDUWRIWKHUHVSRQVHWRWLVVXHLQMXU\ ,QWHUDFWLQJQHWZRUNVRILPPXQHLQIODPPDWLRQDQG 2QHZD\WRGHWHFWDFWLYDWLRQRIWKHLPPXQHV\VWHP LQMXU\IURPLQDGHTXDWHEORRGVXSSO\GULYHWKHSURFHVV is to find antibodies (proteins made by immune cells, so it becomes chronic. Collagen made in excess WKHEXOOHWVRIRXULPPXQHDUP\ LQWKHEORRGWKDW interferes with normal organ function, sometimes WDUJHWVWKHERG\·VRZQWLVVXH DXWRDQWLERGLHV $YHU\ OHDGLQJWRRUJDQIDLOXUH,QPDQ\FDVHVWKHSURFHVV specific set of autoantibodies is found in scleroderma. JRHVLQWRUHPLVVLRQDIWHUVRPH\HDUVRIDFWLYLW\ 7KHVHDXWRDQWLERGLHVFDQEHWKRXJKWRIDVIRRWSULQWV Research continues to assemble the pieces of the of the scleroderma disease process because they scleroderma puzzle to identify the susceptibility genes, DUHRQO\PDGHXQGHUYHU\VSHFLILFFRQGLWLRQV,W WRILQGWKHH[WHUQDOWULJJHUDQGFHOOXODUSURWHLQVGULYLQJ is not clear what role these autoantibodies play in fibrosis, and to interrupt the networks that perpetuate GDPDJLQJWKHEORRGYHVVHOVRUVWLPXODWLQJFROODJHQ the disease. RYHUSURGXFWLRQ 3OHDVHQRWHWKDWWKLVEURFKXUHLVSURYLGHGIRU HGXFDWLRQDOSXUSRVHVRQO\,WLVQRWLQWHQGHGWR WHO GETS SCLERODERMA? $SULO VXEVWLWXWHIRULQIRUPHGPHGLFDODGYLFH 7KHUHDUHPDQ\FOXHVWKDWGHILQHVXVFHSWLELOLW\WR A publication of GHYHORSVFOHURGHUPD$JHQHWLFEDVLVIRUWKHGLVHDVH The Scleroderma Foundation thanks Maureen Mayes, M.D., Scleroderma Foundation has been suggested by the fact that SSc is more M.P.H., University of Texas/Houston and John Varga, 5RVHZRRG'ULYH6XLWH 'DQYHUV0$ common among patients whose family members M.D., Northwestern University, for their assistance in the +23(  ZZZVFOHURGHUPDRUJ KDYHRWKHUDXWRLPPXQHGLVHDVHV VXFKDVOXSXV  preparation of this brochure. www.facebook.com/sclerodermaUS www.twitter.com/scleroderma PULMONARY HYPERTENSION A laboratory clue that a patient might have PH is a individual basis by the patient and their physician, based improvement in exercise capacity, which was greater reduced diffusing capacity (DLCO) on pulmonary function on the potential risk of bleeding. in sicker patients and was dose-related. The use of Pulmonary hypertension (PH) is high blood pressure in tests (PFTs). The DL measures the ability of gas to subcutaneous treprostinil may be limited by infusion CO Calcium channel blockers (such as amlodipine, diltiazem the blood vessels of the lungs. If the high blood pressure move from the air, across the lung tissue and blood vessel site pain and redness. Treprostinil is approved for in the lungs is due to narrowing of the pulmonary arteries wall, into the blood. In the absence of lung fibrosis, if the or nifedipine) can help a small proportion of patients intravenous or subcutaneous delivery for the treatment leading to increased pulmonary vascular resistance, it with PAH. Such treatment is successful in only a DLCO is less than 50 percent of its predicted value, this is of patients in Functional Class II, III, and IV PAH. is known as pulmonary arterial hypertension (PAH). a clue that PH may be present. Another test commonly minority of scleroderma patients with PAH. Inhaled trepostinil (Tyvaso®), when administered The Member Magazine of the Scleroderma Foundation When the blood pressure inside the pulmonary vessels used to screen patients for PH is the echocardiogram. It four times daily, has been shown to improve exercise Scleroderma is high, the right side of the heart has to pump harder to can estimate the pulmonary artery pressure fairly well in PAH SPECIFIC MEDICATIONS capacity in patients with Class III PAH. An oral form of VOICE Rewind move blood into the lungs to pick up oxygen. This can ® San Francisco most patients in a noninvasive manner. The list of drugs for treating PAH continues to expand treprostinil (Orenitram ) was approved by the FDA in National Patient lead to failure of the right side of the heart. Patients with December 2013. Education Conference The physician may order a cardiac catheterization to and include the following FDA-approved drugs: scleroderma are at increased risk for developing PH from ® ® Challenges for Kids measure the actual pressure in the pulmonary arteries. epoprostenol (Flolan and Veletri ), treprostinil SQ with Scleroderma several mechanisms. Frequently patients with scleroderma ® ® Iloprost This invasive test is done to more accurately measure the or IV (Remodulin ), treprostinil inhaled (Tyvaso ), ® have multiple causes of their PH. ® ® Iloprost (Ventavis ) is a prostacyclin analog delivered pressures in the lung blood vessels; to assess the blood treprostinil oral (Orenitram ) iloprost (Ventavis ), Ernie Ross ® ® by inhalation 6–9 times daily that has been shown to Racing to Victory Patients who have limited cutaneous scleroderma flow generated by the heart (the cardiac output); to bosentan (Tracleer ), ambrisentan (Letairis ), improve a composite measure of exercise capacity Fall 2011 ® ® www.scleroderma.org (formerly known as CREST syndrome) are more likely to exclude an underlying leak or shunt contributing to the macitentan (Opsumit ), sildenafil (Revatio ), tadalafil ® ® and functional class. Inhaled iloprost has been studied have PAH than those patients who have diffuse cutaneous PH; to assess the function of the left side of the heart; (Adcirca ), and riociguat (Adempas ). Each of these in patients who remain symptomatic while on stable systemic sclerosis. PAH may be the result of the same and possibly to assess the patient’s responsiveness to drugs falls within one of four separate categories based ERA (bosentan) therapy for at least three months. processes that cause damage to small blood vessels in the vasodilator therapy. The results of this test may change on different mechanisms of action. These drugs are used There was a borderline significant improvement in systemic circulation of patients with scleroderma. The the therapy prescribed by the physician. Right heart alone or in combination with drugs in one or more other exercise capacity, and improvement in functional class. lining cells of the blood vessels (endothelial cells) are catheterization is the “gold standard” for diagnosing PAH. classes. Each will be briefly reviewed below. Combination therapy appeared to be safe and well injured and excessive connective tissue is laid down inside An exercise test known as the six-minute walk test is tolerated. Inhaled iloprost has been approved by the the blood vessel walls. The muscle that constricts the Prostacyclin Analogs often helpful in assessing exercise capacity in patients FDA for treatment of patients with Functional Class III blood vessel may overgrow and narrow the blood vessel. Epoprostenol and IV PAH. with PH. In addition, a Functional Class is often assigned Epoprostenol (Flolan®, Veletri®) is a potent vasodilator Other scleroderma patients may have PH because they to patients based on their activity tolerance, ranging that must be given by a constant intravenous infusion. Endothelin Receptor Antagonists (ERA) have significant scarring (fibrosis) of their lungs. This from Class I to IV (with I being mildest and IV the most This requires an indwelling central venous catheter Bosentan reduces the blood oxygen level, which in turn, may severe). and an infusion pump. In a multicenter, randomized, Bosentan (Tracleer®) is an oral endothelin receptor cause a reflex increase in blood pressure in the controlled clinical trial of chronic intravenous antagonist (ERA). In a pilot study, bosentan was shown pulmonary arteries. WHAT IS THE TYPICAL COURSE epoprostenol, in patients with PAH and scleroderma, to improve exercise capacity and cardio-pulmonary OF PAH IN SCLERODERMA? there was improvement in exercise capacity and hemodynamics in patients with Functional Class III WHAT ARE THE SYMPTOMS OF hemodynamics. A survival benefit was not seen in this and IV PAH. A larger study confirmed improvement PULMONARY HYPERTENSION? It was previously thought that the development of PAH population over the period of study, but the study was in exercise capacity and showed a reduction in clinical in patients with scleroderma was always associated not designed to detect a difference in survival. Common worsening. While oral bosentan therapy is clearly Patients with mild PH may have no symptoms. Patients with a poor prognosis. However, ongoing educational side effects of epoprostenol therapy include headache, simpler than chronic intravenous epoprostenol or with moderate or severe PH usually notice shortness of efforts regarding the risk of PAH in scleroderma has led flushing, jaw pain with initial chewing, diarrhea, and subcutaneously infused treprostinil, there is a potential breath (dyspnea), especially with exercise. Patients may to earlier diagnosis. Studies now suggest that patients bone pain. Other side effects include the potential for for liver injury with bosentan, and monthly blood also notice unusual chest pains and symptoms of right- identified with mild or early PAH will fare better if drug serious infection associated with the catheter. Chronic tests are required while receiving treatment. Bosentan sided heart failure, such as worsening shortness of breath therapy is started before symptoms and exercise capacity intravenous epoprostenol has been approved by the FDA is likely to produce major birth defects if used by and swelling of the feet and legs. Other symptoms that worsen. for the treatment of patients in Functional Class III and pregnant women. Pregnancy must be prevented, and patients cite include a cough, lightheadedness or fainting, IV PAH related to scleroderma. monthly pregnancy tests are required while taking palpitations (heart racing or fluttering), and swelling. WHAT IS THE TREATMENT Treprostinil bosentan. HOW IS PULMONARY OF PAH? Due to the complexity of chronic intravenous Ambrisentan Supplemental oxygen, anticoagulation (blood thinners), epoprostenol therapy, studies have since been Ambrisentan (Letairis®), like bosentan, is an FDA- HYPERTENSION DIAGNOSED? and diuretics are often important parts of treatment for undertaken with various analogues of prostacyclin being approved ERA drug treatment for patients with PAH. In a patient with scleroderma, the development PAH. If the oxygen level at rest, with exercise, or during administered via the subcutaneous (under the skin), To be taken once daily for patients in Functional Class of unexplained shortness of breath should lead to sleep is low, supplemental oxygen therapy may be given. oral, and inhaled routes. Continuous subcutaneous II or III, this drug has shown improvement in exercise consideration of possible PH. The decision to treat with anticoagulation is made on an infusion of treprostinil (Remodulin®) resulted in a slight capacity. Similar to bosentan, ambrisentan should not be taken by pregnant women, or women thinking of shown to significantly improve exercise capacity, Our Three-Fold Mission Is PULMONARY becoming pregnant. Other side effects may include functional class, time to clinical worsening, and dyspnea edema and nasal congestion. score. Riociguat should not be used in pregnant women Support, Education and HYPERTENSION IN because it can harm the developing fetus. Macitentan Research SCLERODERMA Macitentan (Opsumit®) is the latest drug in the ERA class to be approved to treat PAH. Macitentan LUNG TRANSPLANTATION is approved for treatment of PAH to delay disease Lung transplantation is reserved for patients with severe progression defined as death, initiation of intravenous PAH who do not respond to medical therapy. Due to (IV) or subcutaneous prostacyclin drugs, or clinical the relatively high operative and perioperative risks, as worsening of PAH (decreased 6-minute walk distance, well as the significant long-term risks of infection and worsened PAH symptoms and need for additional rejection, lung transplantation should not be considered PAH treatment). The need for PAH hospitalization as first-line therapy or a cure for PAH. Whether single- was also reduced. Like other ERA drugs, macitentan lung, bilateral-lung, or heart-lung transplantation is the is contraindicated in pregnancy because it may harm procedure of choice is still the subject of controversy. the developing fetus, and females of reproductive Not all patients are suitable candidates for lung potential should be counseled on the use of reliable transplantation. Gastro-esophageal reflux disease contraception and have a negative pregnancy test prior (GERD), or esophageal dysmotility occurs frequently to initiating therapy and monthly thereafter. in scleroderma, and may be a reason not to attempt lung transplantation due to the risk of aspiration and Phosphodiesterase-V (PDE-V) transplant rejection. Inhibitors Sildenafil putting it all together Sildenafil was previously approved for the treatment of Pulmonary hypertension is not the only type of lung erectile dysfunction under the trade name of Viagra®. disease that can occur in patients with scleroderma. It is also approved for the treatment of PAH, under the Interstitial lung disease (ILD), also called pulmonary trade name of Revatio®. Sildenafil has been shown to fibrosis, is another serious complication. Please contact improve exercise capacity, pulmonary artery pressure, the Scleroderma Foundation for information on and functional class in patients with PAH. Potential side pulmonary fibrosis. effects include flushing, dyspepsia, visual changes, and It is important to note that patients can have significant nosebleeds. pulmonary involvement from their scleroderma Tadalafil before signs and symptoms appear. Therefore, it Tadalafil (Adcirca®) is approved as a once-daily oral is important to have routine screening for possible therapy for the treatment of PAH, and is indicated to pulmonary involvement, in particular pulmonary arterial improve exercise capacity in PAH patients. Side effects hypertension and interstitial lung disease. Funding for this brochure was provided by an unrestricted educational include headache, stomach upset, back pain, muscle Due to the complexity of the diagnosis and treatment grant from Actelion Pharmaceuticals USA, Inc. pain, stuffy or congested nose, flushing, pain in arms or of scleroderma lung disease, strong consideration legs, or vision change. should be given to referral of patients to physicians with expertise in scleroderma, interstitial lung disease, and Guanylate Cyclase Stimulators PH. This requires close collaboration between you, your Riociguat rheumatologist, pulmonologist, and cardiologist. Riociguat (Adempas®) is the first in a new class Please note that this brochure is provided for educational April 2014 of drugs to be approved for treatment of PAH, purposes only. It is not intended to substitute for including scleroderma patients with PAH, as well as A publication of informed medical advice. for treatment of chronic thromboembolic pulmonary Scleroderma Foundation 300 Rosewood Drive, Suite 105 hypertension. Drugs in this new class act to dilate The Scleroderma Foundation wishes to thank Kristin Highland, Danvers, MA 01923 blood vessels, thus reducing pulmonary vascular M.D., Richard Silver, M.D., and David Badesh, M.D., for resistance and improving PAH. Riociguat has been their input on this brochure. 800-722-HOPE (4673) www.scleroderma.org www.facebook.com/sclerodermaUS www.twitter.com/scleroderma