Diretriz para o diagnóstico, tratamento e acompanhamento clínico de pacientes com doença de Pompe juvenil e do adulto

Llerena Junior, Juan Clinton; Nascimento, Osvaldo JM.; Oliveira, Acary Souza B.; Dourado Junior, Mario Emilio T.; Marrone, Carlo D.; Siqueira, Heloise Helena; Sobreira, Cláudia F. R.; Dias-Tosta, Elza; Werneck, Lineu Cesar

doi:10.1590/0004-282X20150194

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Views and Reviews • Arq. Neuro-Psiquiatr. 74 (02) • Fev 2016 • https://doi.org/10.1590/0004-282X20150194 copiar

Diretriz para o diagnóstico, tratamento e acompanhamento clínico de pacientes com doença de Pompe juvenil e do adulto

Autoria SCIMAGO INSTITUTIONS RANKINGS

RESUMO

A doença de Pompe (DP) é uma doença grave, potencialmente letal, devida ao depósito de glicogênio na fibra muscular e ativação de vias autofágicas. Tratamento promissor para a DP é a reposição enzimática com a enzima recombinante humana alfa-glicosidase ácida (rhAGA -Myozyme^®). A necessidade de organizar uma propedêutica diagnóstica, sistematizar o seguimento clínico e sedimentar as novas recomendações terapêuticas tornaram-se vitais à medida que o tratamento permite uma maior longevidade aos pacientes. Uma força-tarefa de clínicos experientes no manejo da DP foi constituída para elaborar um protocolo para o diagnóstico, acompanhamento clínico, tratamento, aconselhamento genético, entre outras considerações voltadas ao paciente adulto. O estudo foi realizado sob a coordenação da Rede Brasileira de Estudos da Doença de Pompe (REBREPOM). Diante da raridade da DP e escassez de trabalhos de alto impacto de evidência científica, os especialistas emitiram suas opiniões.

doença de Pompe, doença de depósito de glicogênio tipo II; alfa-glicosidade ácida; debilidade muscular; dispneia; gene GAA; GAA recombinante humana

Neuromuscular disorder	Disorder
Muscular dystrophies	Girdle muscular dystrophies
	Duchenne e Becker muscular dystrophies
	Miofibrilar myopathy
	Myotonic Distrophy type 2
Inflammatory myopathies	Polymyositis
Congenital myopathies ^b	Nemaline myopathy
	Central Core or Multiminicore myopathy
	Centronuclear myopathy
	Danon disease
	X-linked myopathy with na excesso f autophagy
Metabolics myopathies	Glycogen debranching enzyme deficiency (Glycogenosis Type IIIa ou IIIb – Cori or Forbe disease)
	Glycogen branching enzyme deficiency (Glycogenosis Type IV – Andersen Disease)
	McArdle syndrome
	Mitocondrial myopathies^c
Motor neuron disease	Spinal mucular atrophy Types 2 e 3
Neuromuscular junction disease	Miastenia gravis Congenital myastenic syndromes^c

Organ or system	Clinical features
Skeletal muscle	Weakness of the pelvic and shoulder girdles Myalgia Exercise intolerance and fatigue Axial muscle weakness: abdominal and lumbar paraspinal muscles Contractures and deformities (“idiopathic” rigid spine)
Other muscles (facial, oral)	Tongue weakness Macroglossia Eyelid ptosis Dysphonia Dysphagia Difficulty in chewing
Lung	Dyspnea on exertion Orthopnea Acute respiratory failure Central and obstructive sleep apnea Sleep disorder - morning headache
Other systems	Hepatomegaly Ectasia of the cerebral arteries with vascular aneurysm Wolf-Parkinson - White syndrome Postprandial pain in the elderly Chronic diarrhea Hyperlordosis and/or scoliosis
Outcomes	Adults with PD have a respiratory disturbance often before the muscle weakness Slow progression of motor weakness Disease progression with stability for long periods Patients with early respiratory insufficiency may have a worse prognosis

Asymptomatic patients without objective clinical signs
Patients should be examined for proximal muscle weakness and lung function (Pompe registry recommendations, www.registrynxt.com/).
ERT should be considered if:
Symptoms appear
Appearance of proximal muscle weakness and/or > 10% drop in sitting-supine forced vital capacity
Asymptomatic patients with objective clinical signs
ERT should be considered if:
Patient is asymptomatic with muscle weakness detectable by directed examination
Typical vacuolar muscle biopsy
> 10% drop in sitting-supine forced vital capacity
Symptomatic patients
Enzyme replacement therapy should be considered if:
> 10% drop in sitting-supine forced vital capacity; or increased muscular weakness; with or without ventilatory support
Patient has difficulty conducting daily routine tasks
Severe patients
If the patient is confined to a wheelchair and using continuous invasive ventilation:
ERT is recommended for 01 year, followed by evaluations to assess therapy effectiveness
After 01 year of ERT, the multidisciplinary team will review the treatment case-by-case, especially for patients requiring continuous invasive ventilation
ERT will be continued if there is stabilization or improvement of severe signs and symptoms
ERT duration
Annual reassessment to review the effectiveness of treatment
Monitoring
Patients receiving enzyme replacement therapy should have IgG antibody levels monitored every 03 months for up to 02 years, and then annually (www.registrynxt.com)

Code	Domain
b134	Sleep functions
b3100	Voice production
b445; s430	Respiratory muscle functions; structure of the respiratory tract
b455	Exercise tolerance functions
b510	Food intake functions
b525	Defection functions
b530	Weight maintenance functions
b730	Muscle strength functions
d230	Performing daily routines
d450	Walking
d460	Moving through different locations
d598	Self-care
d640	Performing household chores
e120	Products and technologies to facilitate mobility and/or transport the person indoors and outdoors

Include the patient in the International Pompe Registry (www.registrynxt.com/)
Physical examination and evaluations
Evaluation by a cardiologist and pulmonologist prior to physical therapy and aerobic exercise
Baseline 6-minute walk test (ATM Statement, 2002; www.registrynxt.com).
Annual densitometry (DEXA) (even for patients in wheelchairs)
PD patients with reduced bone density: assessment by specific tests and endocrinologist
Walking assistance equipment to reduce falls
Physical/occupational therapy
Physical therapy program including walking, treadmill, bicycle, hydrotherapy, swimming, muscle strengthening for neuromuscular diseases;
Avoid extreme exercise, excessive fatigue and immobility
Emphasis on aerobic exercises
Incorporate into daily functional activities
Instruct the patient to monitor heart rate and breathing during exercise
Daily exercise regime for the prevention of contractures
Managing contractures
Orthotic devices to prevent joint contractures with posture assessments while the patient is in the wheelchair and support for when he/she stands
Surgical intervention
Surgical intervention for scoliosis when the Cobb angle is between 30° and 40°
Vitamin and Mineral supplements
Vitamin D, calcium and bisphosphonates following the osteoporosis manual

Population (Year)	Incidence	Reference
Afro-Americans (2001)	1: 14,000	1
Dutch (1999)	1: 40,000 combined 1: 138,000 early onset 1: 57,000 adults	4
Americans (1998)	1: 40,000 combined	5
European Descendents (1998)	1:100,000 early onset 1: 60,000 adults	5
Australia (1999)	1: 145,000	6
Portugal (2004)	1: 600,000	7
Taiwan (2014)*	1:18.221 combined 1:52.538 early onset 1:27.866 late onset	8

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[1] Correspondence
: Osvaldo J M Nascimento MD, PhD, FAAN; Universidade Federal Fluminense, Departamento de Neurologia; Rua Siqueira Campos, 53/1204; 22031-171 Rio de Janeiro RJ, Brasil; E-mail:osvaldo_nascimento@hotmail.com