Diagnostik, Therapie und psychosoziale Aspekte bei late-onset Morbus Pompe

Zusammenfassung

Morbus Pompe ist eine schwerwiegende lysosomale Stoffwechselerkrankung, die sich von frühester Kindheit bis ins Erwachsenenalter klinisch manifestieren kann. Ihre Diagnose wird durch ein breites Symptomspektrum erschwert. Eine frühe Diagnose mittels Enzymaktivitätsbestimmung aus Trockenblut und humangenetischer Sicherung ist insbesondere seit Einführung der Enzymersatztherapie (in Deutschland 2006) entscheidend für das Behandlungsergebnis und die Lebensqualität der Patienten. Bei unklaren muskulären Erkrankungen ist daher auch ein M. Pompe in Erwägung zu ziehen. Dieser Artikel gibt einen Überblick über die Erkrankung und konzentriert sich auf die Diagnostik ihres spätmanifestierenden Typs, der sowohl im Kindes- und Jugendalter als auch im Erwachsenenalter auftreten kann. Die relevantesten Aspekte der interdisziplinären Versorgung Betroffener werden dargestellt. Darüber hinaus beleuchtet er die psychosozialen Belastungen bei Kindern mit M. Pompe und ihren Familien, welche von psychischen Störungen bis hin zu sozialem Rückzug reichen können und gibt Hinweise zum Umgang mit Eltern betroffener Kinder.

Abstract

Pompe disease is a lysosomal storage disorder, with onset between the first weeks after birth and adulthood, depending on its phenotype. It can affect multiple organ systems and presents itself with a wide variety of symptoms. Thus, recognizing Pompe disease is difficult. Especially since enzyme replacement therapy for Pompe disease was introduced (in Germany in 2006), early diagnosis by means of enzyme activity determination from dried blood spot analysis and genetic verification has become important for outcome and quality of life. When facing an obscure muscular disorder, it is crucial to consider Pompe disease. This article provides an overview about Pompe disease and focuses on the diagnosis of the late onset type. The most important aspects of interdiciplinary care for patients with Pompe disease are presented. Additionally, it contains a section focusing on psychosocial challenges for children with Pompe disease and their families, which may include mental disorders and social retreat, and gives advice on how to support parents of affected children.

Schlüsselwörter

Morbus Pompe - Glykogenspeicherkrankheit Typ II - lysosomale Stoffwechselerkrankung - seltene Erkrankung - LOPD

Key words

Pompedisease - glycogen storage disease type II - lysosomal storage disease - rare disease - LOPD

Publication History

Received: 24 May 2022

Accepted: 12 May 2023

Article published online:
12 July 2023

• Literatur

• 1 Lim JA, Li L, Kakhlon O, Myerowitz R, Raben N. Pompe disease: Shared and unshared features of lysosomal storage disorders. Autophagy 2015; 11: 385-402
• 2 Ünver O, Hacıfazlıoğlu NE, Karatoprak E, Güneş AS, Sağer G, Kutlubay B, Sözen G, Saltık S, Yılmaz K, Kara B, Türkdoğan D. The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study. Neuromuscul Disord 2016; 26: 796-800
• 3 Tarnopolsky M, Katzberg H, Petrof BJ, Sirrs S, Sarnat HB, Myers K, Dupré N, Dodig D, Genge A, Venance SL, Korngut L, Raiman J, Khan A. Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel. Can J Neurol Sci 2016; 43: 472-485
• 4 Byrne BJ, Kishnani PS, Case LE, Merlini L, Müller-Felber W, Prasad S, der Ploeg A. van. Pompe disease: Design, methodology, and early findings from the Pompe Registry. Mol Genet Metab 2011; 103: 1-11
• 5 Montagnese F, Barca E, Musumeci O, Mondello S, Migliorato A, Ciranni A, Rodolico C, De Filippi P, Danesino C, Toscano A. Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment. J Neurol 2015; 262: 968-978
• 6 Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, Kissel JT. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve 2012; 45: 319-333
• 7 Llerena Junior JC, Nascimento OJM, Oliveira ASB, Dourado Junior MET, Marrone CD, Siqueira HH, Sobreira CFR, Dias-Tosta E, Werneck LC. Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease. Arq Neuropsiquiatr 2016; 74: 166-176
• 8 Müller-Felber W, Horvath R, Gempel K, Podskarbi T, Shin Y, Pongratz D, Walter MC, Baethmann M, Schlotter-Weigel B, Lochmüller H, Schoser B. Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord 2007; 17: 698-706
• 9 Lee JH, Shin JH, Park HJ, Kim SZ, Jeon YM, Kim HK, Kim DS, Choi YC. Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population. Neuromuscul Disord 2017; 27: 550-556
• 10 Ausems MG, ten Berg K, Kroos MA, van Diggelen OP, Wevers RA, Poorthuis BJ, Niezen-Koning KE, van der Ploeg AT, Beemer FA, Reuser AJ, Sandkuijl LA, Wokke JH. Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequency. Community Genet 1999; 2: 91-96
• 11 Ausems MG, Verbiest J, Hermans MP, Kroos MA, Beemer FA, Wokke JH, Sandkuijl LA, Reuser AJ, van der Ploeg AT. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet 1999; 7: 713-716
• 12 Martiniuk F, Chen A, Mack A, Arvanitopoulos E, Chen Y, Rom WN, Codd WJ, Hanna B, Alcabes P, Raben N, Plotz P. Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am J Med Genet 1998; 79: 69-72
• 13 Chien Y-H, Chiang S-C, Zhang XK, Keutzer J, Lee N-C, Huang A-C, Chen C-A, Wu M-H, Huang P-H, Tsai F-J, Chen Y-T, Hwu W-L. Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Pediatrics 2008; 122: e39-e45
• 14 Chien Y-H, Lee N-C, Huang H-J, Thurberg BL, Tsai F-J, Hwu W-L. Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening. J Pediatr 2011; 158: 1023-1027.e1
• 15 Chiang SC, Hwu WL, Lee NC, Hsu LW, Chien YH. Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program. Mol Genet Metab 2012; 106: 281-286
• 16 Hagemans MLC, Winkel LPF, Van Doorn PA, Hop WJC, Loonen MCB, Reuser AJJ, Van der Ploeg AT. Clinical manifestation and natural course of late-onset Pompe’s disease in 54 Dutch patients. Brain 2005; 128: 671-677
• 17 Vanherpe P, Fieuws S, D’Hondt A, Bleyenheuft C, Demaerel P, De Bleecker J, Van Den Bergh P, Baets J, Remiche G, Verhoeven K, Delstanche S, Toussaint M, Buyse B, Van Damme P, Depuydt CE, Claeys KG. Late-onset Pompe disease (LOPD) in Belgium: Clinical characteristics and outcome measures. Orphanet J Rare Dis 2020; 15: 1-11
• 18 Chien YH, Hwu WL, Lee NC. Pompe disease: Early diagnosis and early treatment make a difference. Pediatr Neonatol 2013; 54: 219-227
• 19 Leslie N, Bailey L. Pompe Disease. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A (Hrsg.). . Seattle (WA). 2007
• 20 Güngör D, De Vries JM, Hop WCJ, Reuser AJJ, Van Doorn PA, Van Der Ploeg AT, Hagemans MLC. Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy. Orphanet J Rare Dis 2011; 6: 34
• 21 van Capelle CI, van der Meijden JC, van den Hout JMP, Jaeken J, Baethmann M, Voit T, Kroos MA, Derks TGJ, Rubio-Gozalbo ME, Willemsen MA, Lachmann RH, Mengel E, Michelakakis H, de Jongste JC, Reuser AJJ, van der Ploeg AT. Childhood Pompe disease: clinical spectrum and genotype in 31 patients. Orphanet J Rare Dis 2016; 11: 65
• 22 El-Gharbawy AH, Bhat G, Murillo JE, Thurberg BL, Kampmann C, Mengel KE, Kishnani PS. Expanding the clinical spectrum of late-onset Pompe disease: Dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered. Mol Genet Metab 2011; 103: 362-366
• 23 Sacconi S, Bocquet JD, Chanalet S, Tanant V, Salviati L, Desnuelle C. Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease. J Neurol 2010; 257: 1730-1733
• 24 Benz K, Hahn P, Hanisch M, Lücke K, Lücke T, Jackowski J. Systematic review of oral and craniofacial findings in patients with Fabry disease or Pompe disease. Br J Oral Maxillofac Surg 2019; 57: 831-838
• 25 Dubrovsky A, Corderi J, Lin M, Kishnani PS, Jones HN. Expanding the phenotype of late-onset Pompe disease: tongue weakness: a new clinical observation. Muscle Nerve 2011; 44: 897-901
• 26 Drążewski D, Grzymisławska M, Korybalska K, Czepulis N, Grzymisławski M, Witowski J, Surdacka A. Oral Health Status of Patients with Lysosomal Storage Diseases in Poland. Int J Environ Res Public Health 2017; 14
• 27 Ceyhan D, Gucyetmez Topal B. An 18-Month-Old Child with Infantile Pompe Disease: Oral Signs. Case Rep Dent 2017; 2017: 5685941
• 28 Papadimas GK, Terzis G, Papadopoulos C, Areovimata A, Spengos K, Kavouras S, Manta P. Bone density in patients with late onset pompe disease. Int J Endocrinol Metab 2012; 10: 599-603
• 29 Bernstein DL, Bialer MG, Mehta L, Desnick RJ. Pompe disease: Dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients. Mol Genet Metab 2010; 101: 130-133
• 30 Remiche G, Herbaut A-G, Ronchi D, Lamperti C, Magri F, Moggio M, Bresolin N, Comi GP. Incontinence in late-onset Pompe disease: an underdiagnosed treatable condition. Eur Neurol 2012; 68: 75-78
• 31 Oktenli C. Renal magnesium wasting, hypomagnesemic hypocalcemia, hypocalciuria and osteopenia in a patient with glycogenosis type II. Am J Nephrol 2000; 20: 412-417
• 32 Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, Cupler E, Deschauer M, Fumić K, Jackson M, Kishnani P, Lacerda L, Ledvinová J, Lugowska A, Lukacs Z, Maire I, Mandel H, Mengel E, Müller-Felber W, Piraud M, Reuser A, Rupar T, Sinigerska I, Szlago M, Verheijen F, van Diggelen OP, Wuyts B, Zakharova E, Keutzer J. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting. Mol Genet Metab 2008; 93: 275-281
• 33 Chamoles NA, Niizawa G, Blanco M, Gaggioli D, Casentini C. Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper. Clin Chim Acta 2004; 347: 97-102
• 34 Hirschhorn R, Reuser AJJ. Glycogen storage disease type II: Acid alpha-Glucosidase (Acid Maltase) Deficiency. Metab Mol basis Inherit Dis 2001; 3389-3420
• 35 ACMG Work Group on Management of Pompe Disease. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case L, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O’Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS. Pompe disease diagnosis and management guideline. Genet Med 2006; 8: 267-288
• 36 Hobson-Webb LD, DeArmey S, Kishnani PS. The clinical and electrodiagnostic characteristics of Pompe disease with post-enzyme replacement therapy findings. Clin Neurophysiol 2011; 122: 2312-2317
• 37 Winkel LPF, Hagemans MLC, Van Doorn PA, Loonen MCB, Hop WJC, Reuser AJJ, Van Der Ploeg AT. The natural course of non-classic Pompe’s disease; a review of 225 published cases. J Neurol 2005; 252: 875-884
• 38 Laforet P, Nicolino M, Eymard PB, Puech JP, Caillaud C, Poenaru L, Fardeau M. Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology 2000; 55: 1122-1128
• 39 Hagemans MLC, Stigter RL, Van Capelle CI. Van Der Beek NAME, Winkel LPF, Van Vliet L, Hop WCJ, Reuser AJJ, Beishuizen A, Van Der Ploeg AT. PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease. J Inherit Metab Dis 2010; 33: 133-139
• 40 Grigull L, Lechner W, Petri S, Kollewe K, Dengler R, Mehmecke S, Schumacher U, Lücke T, Schneider-Gold C, Khler C, Güttsches AK, Kortum X, Klawonn F. Diagnostic support for selected neuromuscular diseases using answerpattern recognition and data mining techniques: A proof of concept multicenter prospective trial. BMC Med Inform Decis Mak 2016; 16: 1-9
• 41 Manganelli F, Ruggiero L. Clinical features of Pompe disease. Acta Myol myopathies cardiomyopathies Off J Mediterr Soc Myol 2013; 32: 82-84
• 42 Johnson EM, Roberts M, Mozaffar T, Young P, Quartel A, Berger KI. Pulmonary function tests (maximum inspiratory pressure, maximum expiratory pressure, vital capacity, forced vital capacity) predict ventilator use in late-onset Pompe disease. Neuromuscul Disord 2016; 26: 136-145
• 43 Toscano A, Schoser B. Enzyme replacement therapy in late-onset Pompe disease: A systematic literature review. J Neurol 2013; 260: 951-959
• 44 Kishnani PS, Goldenberg PC, DeArmey SL, Heller J, Benjamin D, Young S, Bali D, Smith SA, Li JS, Mandel H, Koeberl D, Rosenberg A, Chen Y-T. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab 2010; 99: 26-33
• 45 Messinger YH, Mendelsohn NJ, Rhead W, Dimmock D, Hershkovitz E, Champion M, Jones SA, Olson R, White A, Wells C, Bali D, Case LE, Young SP, Rosenberg AS, Kishnani PS. Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease. Genet Med 2012; 14: 135-142
• 46 de Vries JM, van der Beek NAME, Hop WCJ, Karstens FPJ, Wokke JH, de Visser M, van Engelen BGM, Kuks JBM, van der Kooi AJ, Notermans NC, Faber CG, Verschuuren JJGM, Kruijshaar ME, Reuser AJJ, van Doorn PA, van der Ploeg AT. Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study. Orphanet J Rare Dis 2012; 7: 73
• 47 Orlikowski D, Pellegrini N, Prigent H, Laforêt P, Carlier R, Carlier P, Eymard B, Lofaso F, Annane D. Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease. Neuromuscul Disord 2011; 21: 477-482
• 48 Van der Ploeg AT, Barohn R, Carlson L, Charrow J, Clemens PR, Hopkin RJ, Kishnani PS, Laforêt P, Morgan C, Nations S, Pestronk A, Plotkin H, Rosenbloom BE, Sims KB, Tsao E. Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa. Mol Genet Metab 2012; 107: 456-461
• 49 Boentert M, Prigent H, Vardi K, Jones HN, Mellies U, Simonds AK, Wenninger S. Cort�s EB, Confalonieri M. Practical recommendations for diagnosis and management of respiratory muscle weakness in late-onset Pompe disease. Int J Mol Sci 2016; 17
• 50 Chien Y-H, Lee N-C, Huang P-H, Lee W-T, Thurberg BL, Hwu W-L. Early Pathologic Changes and Responses to Treatment in Patients With Later-Onset Pompe Disease. Pediatr Neurol 2012; 46: 168-171
• 51 Güngör D, Kruijshaar ME, Plug I, D’Agostino RB, Hagemans MLC, Van Doorn PA, Reuser AJJ, Van Der Ploeg AT. Impact of enzyme replacement therapy on survival in adults with Pompe disease: Results from a prospective international observational study. Orphanet J Rare Dis 2013; 8: 1
• 52 Schüller A, Kornblum C, Deschauer M, Vorgerd M, Schrank B, Mengel E, Lukacs Z, Gläser D, Young P, Plöckinger U, Schoser B. Diagnose und Therapie des Late-onset-Morbus-Pompe. Nervenarzt 2013; 84: 1467-1472
• 53 van der Ploeg AT, Kruijshaar ME, Toscano A, Laforêt P, Angelini C, Lachmann RH, Pascual Pascual SI, Roberts M, Rösler K, Stulnig T, van Doorn PA, Van den Bergh PYK, Vissing J, Schoser B, Bembi B, Broomfield A, Boentert M, Desnuelle C, Findling O, Hahn A, Díaz-Manera J, Hundsberger T, Kornblum C, Labarthé F, Laforet P, Mengel KE, Mongini T, Muller-Felber W, Parenti G, Pijnappel WP, Preisler N, Sacconi S, Talim B, Tardieu M. van der Beek NAME, Wenninger S. European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience. Eur J Neurol 2017; 24: 768-e31
• 54 European Medicines Agency, Committee for Medicinal Products for Human Use (CHMP). Assessment report nexviadyme International non-proprietary name avalglucosidase alpha 2019; 31: 1-36
• 55 Koeberl DD, Austin S, Case LE, Smith EC, Buckley AF, Young SP, Bali D, Kishnani PS. Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease. FASEB J 2014; 28: 2171-2176
• 56 Koeberl DD, Case LE, Smith EC, Walters C, Han S, Li Y, Chen W, Hornik CP, Huffman KM, Kraus WE, Thurberg BL, Corcoran DL, Bali D, Bursac N, Kishnani PS. Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease. Mol Ther 2018; 26: 2304-2314
• 57 Porto C, Ferrara MC, Meli M, Acampora E, Avolio V, Rosa M, Cobucci-Ponzano B, Colombo G, Moracci M, Andria G, Parenti G. Pharmacological enhancement of α-glucosidase by the allosteric chaperone n-acetylcysteine. Mol Ther 2012; 20: 2201-2211
• 58 Parenti G, Andria G, Valenzano KJ. Pharmacological Chaperone Therapy : Preclinical Development , Clinical Translation , and Prospects for the Treatment of Lysosomal Storage Disorders. 2015; 23: 1138-1148
• 59 Smith BK, Collins SW, Conlon TJ, Mah CS, Lawson LA, Martin AD, Fuller DD, Cleaver BD, Clément N, Phillips D, Islam S, Dobjia N, Byrne BJ. Phase I/II Trial of Adeno-Associated Virus–Mediated Alpha-Glucosidase Gene Therapy to the Diaphragm for Chronic Respiratory Failure in Pompe Disease: Initial Safety and Ventilatory Outcomes. Hum Gene Ther 2013; 24: 630-640
• 60 Smith BK, Martin AD, Lawson LA, Vernot V, Marcus J, Islam S, Shafi N, Collins SW, Byrne BJ. Inspiratory muscle conditioning exercise and diaphragm gene therapy in Pompe disease: clinical evidence of respiratory plasticity 2018; 287: 216-224
• 61 Bellotti AS, Andreoli L, Ronchi D, Bresolin N, Comi GP, Corti S. Molecular Approaches for the Treatment of Pompe Disease. Mol Neurobiol 2020; 57: 1259-1280
• 62 Blöß S, Klemann C, Rother AK, Mehmecke S, Schumacher U, Mücke U, Mücke M, Stieber C, Klawonn F, Kortum X, Lechner W, Grigull L. Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey. PLoS One 2017; 12: 1-12
• 63 Al Jasmi F, Al Jumah M, Alqarni F, Al-Sanna’a N, Al-Sharif F, Bohlega S, Cupler EJ, Fathalla W, Hamdan MA, Makhseed N, Nafissi S, Nilipour Y, Selim L, Shembesh N, Sunbul R, Tonekaboni SH. Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group. BMC Neurol 2015; 15: 205
• 64 Pelentsov LJ, Laws TA, Esterman AJ. The supportive care needs of parents caring for a child with a rare disease: A scoping review. Disabil Health J 2015; 8: 475-491
• 65 Brown A, Crowe L, Boneh A, Anderson V. Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders. JIMD Rep 2017; 31: 29-36
• 66 Anderson M, Elliott EJ, Zurynski YA. Australian families living with rare disease: Experiences of diagnosis, health services use and needs for psychosocial support. Orphanet J Rare Dis 2013; 8: 22
• 67 Immelt S. Psychological Adjustment in Young Children with Chronic Medical Conditions. J Pediatr Nurs Nurs Care Child Fam 2006; 21: 362-377
• 68 Pelentsov LJ, Fielder AL, Laws TA, Esterman AJ. The supportive care needs of parents with a child with a rare disease: Results of an online survey. BMC Fam Pract 2016; 17: 1-13