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

Keywords

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

Publikationsverlauf

Artikel online veröffentlicht:
13. Februar 2025

• Literatur

• 1 Lim JA, Li L, Kakhlon O. et al. Pompe disease: Shared and unshared features of lysosomal storage disorders. Autophagy 2015; 11: 385-402
• 2 Ünver O, Hacıfazlıoğlu NE, Karatoprak E. et al. 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. et al. 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. et al. 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. et al. 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. et al. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve 2012; 45: 319-333
• 7 Llerena Junior JC, Nascimento OJM, Oliveira ASB. et al. 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. et al. 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. et al. 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. et al. 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. et al. 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. et al. 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. et al. 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. et al. 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. et al. 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. et al. 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. et al. 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. et al. (Hrsg.). Seattle (WA): 2007
• 20 Güngör D, De Vries JM, Hop WCJ. et al. 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. et al. 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. et al. 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. et al. 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. et al. 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. et al. 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. et al. 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. et al. Bone density in patients with late onset pompe disease. Int J Endocrinol Metab 2012; 10: 599-603
• 29 Bernstein DL, Bialer MG, Mehta L. et al. 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. et al. 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. et al. 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. et al. 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 DiseaseKishnani PS. Steiner RD, Bali D. et al. 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. et al. 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. et al. 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. et al. 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. et al. 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. et al. 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. et al. 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. et al. 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. et al. 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. et al. Recombinant human acid alphaglucosidase (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. et al. 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. et al. 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. et al. 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. et al. 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. et al. Diagnose und Therapie des Late-onset-Morbus-Pompe. Nervenarzt 2013; 84: 1467-1472
• 53 van der Ploeg AT, Kruijshaar ME, Toscano A. et al. 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. et al. 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. et al. 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. et al. 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. et al. 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. et al. 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. et al. Molecular Approaches for the Treatment of Pompe Disease. Mol Neurobiol 2020; 57: 1259-1280
• 62 Blöß S, Klemann C, Rother AK. et al. 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. et al. 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. et al. 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. et al. 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