Approach to the Critical Patient

Immediate priorities

Life-threatening presentations

Monitoring and targets

Monitoring bundle

Escalation triggers

Immediate consults

Consultation triggers

History

Presenting symptoms

Core symptom complex

Disease onset and timeline

Age of onset and subtype clues

Associated symptoms and review of systems

Musculoskeletal

GI and nutrition

Neurologic

Risk factors and past history

Genetic risk

Past medical history

Family history and collateral

Family history assessment

Physical Exam

Vitals and general appearance

Stability snapshot

General appearance

Neuromuscular exam

Proximal muscle assessment

Deep tendon reflexes

Head lag and vertical suspension

Cardiovascular and respiratory exam

Cardiac exam

Respiratory exam

PITFALLS

Diagnostic pitfalls

Differential Diagnosis

Life-threatening mimics

Immediate threats requiring differentiation

Neuromuscular mimics

Myopathies

Anterior horn and neuromuscular junction

Respiratory mimics

Respiratory onset presentations

Laboratory Tests

Enzyme and confirmatory tests

GAA enzyme activity (first-line screening)

Anti-rhGAA antibody titers

Muscle and metabolic markers

Serum CK

Liver enzymes

Urinary glucotetrasaccharide (Hex4)

Cardiac and systemic markers

BNP or NT-proBNP

Arterial blood gas

Lactate

Diagnostic Tests

Scoring Systems

Functional outcome measures

Respiratory scoring

MRI

Muscle MRI

Brain MRI and MRA

Cardiac MRI

CT

Chest CT

Whole body CT (skeletal)

Contraindications and cautions

Ultrasound

Echocardiography

Diaphragm ultrasound

Abdominal ultrasound

Disposition

Inpatient admission criteria

Admission indications

ICU level care

ICU indications

Transfer and outpatient considerations

Transfer criteria

Discharge and follow-up

Treatment

Enzyme replacement therapy

First-line ERT: alglucosidase alfa (Lumizyme or Myozyme)

Next-generation ERT: avalglucosidase alfa (Nexviazyme)

Combination therapy: cipaglucosidase alfa plus miglustat (Pombiliti plus Opfolda)

Immunomodulation for CRIM-negative patients

CRIM-negative Pompe disease management

Respiratory management

Non-invasive ventilation

Mechanical ventilation

Airway clearance

Cardiac management in IOPD

LVOT obstruction avoidance

Arrhythmia management

Anesthesia precautions

Safe anesthetic agents

Agents to avoid

Supportive and adjunctive therapies

Nutritional management

Exercise therapy

Swallowing rehabilitation

Special Populations

Pregnancy

Pregnancy considerations in Pompe disease

Geriatric

Older adult features

Pediatrics

IOPD (infantile-onset)

LOPD in children and adolescents

Background

Epidemiology

Incidence and prevalence

Mortality and morbidity

Pathophysiology

Genetic and enzymatic basis

Cellular and organ effects

Therapeutic Considerations

ERT mechanism and limitations

Emerging and adjunctive therapies

Monitoring on ERT

Patient Discharge Instructions

copy discharge instructions

Pompe disease home care instructions

Warning signs to return to emergency department

Follow-up plan

References

Guidelines and key sources

Society and clinical guidelines

Key clinical trials

Coding and classification

SymptomDx is an educational tool for medical professionals. It does not replace clinical judgment. Verify all clinical data and drug dosages with authoritative sources.