Morbus Pompe

Lehberger, J.; Roth, R.; Weingärtner, K.

doi:10.1007/s00101-012-1998-0

Cited by 5 publications

(2 citation statements)

References 6 publications

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“…The medical staff must carefully attend to a series of considerations when indicating surgery to patients with PD, because the increase risk of complications involving anesthesia 55 (B/C).…”

Section: Anesthesia/surgerymentioning

confidence: 99%

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Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease

Llerena

Nascimento

Oliveira

et al. 2015

Arq. Neuro-Psiquiatr.

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Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme®). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity. A task force of experienced clinicians outlined a protocol for diagnosis, monitoring, treatment, genetic counseling, and rehabilitation for PD patients. The study was conducted under the coordination of REBREPOM, the Brazilian Network for Studies of PD. The meeting of these experts took place in October 2013, at L’Hotel Port Bay in São Paulo, Brazil. In August 2014, the text was reassessed and updated. Given the rarity of PD and limited high-impact publications, experts submitted their views.

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Section: Anesthesia/surgerymentioning

confidence: 99%

“…Patients with neuromuscular diseases due to metabolic causes may have a higher risk of adverse events to general anesthetics, especially the combination of halothane and succinylcholine 55 . The following guidelines are recommended for surgery procedures in PDJ-A:…”

Section: Anesthesia/surgerymentioning

confidence: 99%

Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease

Llerena

Nascimento

Oliveira

et al. 2015

Arq. Neuro-Psiquiatr.

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Multiple, Successful Pregnancies in Pompe Disease

et al. 2015

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Pompe disease is an autosomal recessive lysosomal storage disease characterized in adult patients by slowly progressive limb-girdle muscle weakness and respiratory insufficiency. Data on pregnancy in women with Pompe disease, intrauterine development of the fetus and parturition are rare. Here we describe a twin pregnancy followed by a second pregnancy in a 38-year-old female patient with Pompe disease. We report the impact of pregnancy on muscle and respiratory functions as well as the neurological and endocrine systems and discuss the medical consequences for anaesthetic management at parturition.

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Perioperative management of children with glycogen storage disease type II—Pompe disease

Bosman

Hoeks

Candel

et al. 2018

Pediatric Anesthesia

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Summary Background Pompe disease is a rare metabolic disorder caused by a deficiency of the lysosomal enzyme acid α‐glucosidase. Glycogen accumulation damages skeletal, cardiac, and smooth muscles, causing a progressive and debilitating muscle weakness and cardiomyopathy. As life expectancy has much improved since the introduction of enzyme replacement therapy an increasing number of patients are referred for surgical procedures. Due to the potential cardiopulmonary complications, these patients form a high‐risk group for the anesthesiologist. Aims In this study, we investigated the incidence of perioperative complications in children with Pompe disease treated in our hospital since the introduction of enzyme replacement therapy. Methods Anesthetic and perioperative data of children with Pompe disease treated between 1999 and 2015 in the Erasmus MC—Sophia Children's Hospital, University Medical Centre, Rotterdam, The Netherlands, were collected, retrospectively. Results Of the 65 children with Pompe disease, 34 patients underwent in total 77, mostly low‐risk, surgical procedures. Twenty‐one children had the classic infantile form and 13 had a nonclassic presentation of Pompe disease. In 13 (16.8%) procedures, 1 or more perioperative complications occurred. Perioperative desaturation was the main complication (12.9%), followed by arrhythmia (3.8%) and heart failure requiring diuretic treatment (2.6%). One child died 2 days postoperatively, but this was considered unrelated to the procedure. Conclusion Despite the potentially high anesthetic risk for children with Pompe disease under enzyme replacement therapy, the incidence of perioperative complications in our study was relatively low. Our data suggest that with proper precautionary measures and a critical choice of timing of the operation, general anesthesia in children with Pompe disease could be relatively safe nowadays.

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Morbus Pompe

Cited by 5 publications

References 6 publications

Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease

Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease

Multiple, Successful Pregnancies in Pompe Disease

Perioperative management of children with glycogen storage disease type II—Pompe disease

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