Centro Hospitalar Lisboa Norte, E.P.E.



CHLN is a Central University Hospital integrated in Portuguese National Health System, gifted with all medical pediatric and adult specialties and sub-specialties recognized by the National Medical Council. CHLN is committed to provide highly specialized care to both pediatric and adult patients with Inherited Metabolic Diseases (IMD).
The CHLN provides direct care to 222.000 people, extending its expertise to include regional and national levels. With an average capacity of 1.078 beds, the CHLN treated 39.000 inpatients in 2015. At the outpatient clinic were carried 700.201 medical consultations, 78.443 days of hospital sessions (13.277 patients). 206.315 emergencies were carried out. It was performed in this last year, 7.458.861 procedures of diagnosis and therapy.
The institution had more than 6.000 employees. Healthcare professionals, roles and responsibilities, are fully clarified for each specific area of expertise.
CHLN is part of Lisbon Academic Medical Center, which also includes Lisbon Medical Faculty and Institute for Molecular Medicine. These consortium allows highly specialized investigation and teaching.
Nationally, CHLN are the largest center for the management and treatment of IMD, counting with over 4700 patients, and recognized as Reference Centre. CHLN is gifted with all the facilities, human resources, scientific knowledge and technical means to provide diagnosis, continuing care and treatment (either curative, symptomatic or palliative) of IMD pediatric and adult patients. CHLN-MD multidisciplinary team is composed by pediatric dedicated physicians, internal medicine physicians, nurses, dietitians, psychologists and social workers. Direct support of other associated medical specialties with proven experience in the managing of IMD patients is provided, allowing optimal and holistic care. CHLN facilities allows management of patients in outpatient, day care, admission and non-presential (by phone or e-mail) scenarios, with 24h/7 open access to both pediatric and adult emergency departments and 24h/7 on call MD pediatric and adult physicians. Global assistance 24/7 is assured by pediatric and adult emergency rooms (with continuous and prioritary support of all specialties including neonatology, intensive care, and access to specific techniques such as conventional and NO ventilation, hemodynamic support, dyalitic techniques and ECMO) supported by highly specialized and qualified specialties, pediatric and adult teams.
A transition program to help the patients affected by IMD from adolescenthood to adulthood care are also available.
A Translator Service are available to all patients translating all information in different languages and Braille, in response to the degree of literacy of patients and families.
Hospital pharmacy has technical experience and specific equipment for cofactors, toxic scavengers, enzymatic therapy and orphan drugs management.
Full rehabilitation service is available to outpatient, inpatient and home care basis. Regular rehabilitation programs are established by an independent accredited associated service.
CHLN-MD has an ambulatory care unit (UMAD) composed by clinicians, nurses, physiotherapists, social workers, among others, assuring home technical support, and care to patients and their families, reducing hospital visits need, monitoring and delivering therapy at home. Assessed by international teams under the HOPE program, it is seen as an important innovation in pediatric long-term care in Portugal.
CHLN has a palliative multidisciplinary care unit (EIHSCP): assuring care for patients and their families in an ambulatory, hospitalized, phone or home care regimen.

Metabolic clinicians are direction members of SPDM, SPP-SDM, SPMI-NDR, participating in consensus protocols for management of IMD promoted by these societies.

The CHLN National Reference Centre in Hereditary Metabolic Disorders focuses in all areas of is expertise namely:

  • Amino and organic acids-related disorders (AOA)
  • Carbohydrate, fatty-acid oxidation and ketone bodies disorders (C-FAO)
  • Lysosomal Storage Disorders (LSD)
  • Dyslipidemias, amog others.

CHLN is recognized for her expertise and differentiation in the prevention, diagnosis and treatment of IMD by the Health Ministry, as evidenced by the appointment as Portuguese IMD Reference Unit for all the South and Islands in 1984; as Treatment Center in this field in 2008; as National Diagnostic Coordinator Center for Treatment of Lysosomal Storage Diseases in 2005, as South Excellence Centre for Lysosomal Storage Diseases since 2013 and has National IMD Reference Centre since 2016, ensuring quality and safety indicators, which are regularly monitored.


  • Enzyme replacement therapy: EMA approved for Gaucher, Fabry, Pompe, Mucopolysaccharidoses (type I, II, IV, VI and VII), LAL deficiency
  • Substrate reduction therapy: EMA approved for Gaucher, Niemann Pick type C
  • Surgery for Neurological involvement (carpal tunnel decompression, cervical spine decompression, ENT surgery, lumbar spine decompression and stabilization, ventricular peritoneal shunts), Cardiothoracic surgery (heart, blood vessels and lungs), liver biopsy and surgery, corneal transplantation, dental surgery, among others
  • CHLN has recognized technical competency in kidney and medullar transplantations (pediatric and adult), establishing interinstitutional collaborations with other transplantation units
  • Concomitant treatments for: seizures, sleep and pain, heart, kidney, liver, skeleton, bowl, ENT, neuropsychiatric involvement, ophthalmology, ORL and lung
  • 4/7 access to emergency room and chemistry, imagiology and physiology priority studies, to adult and pediatric ICU; to emergency dietitian and pharmacy support (CHLN pharmacy has technical experience and specific equipments for cofactors, toxic scavengers, enzymatic therapy and orphan drugs management)
  • Conventional and NO ventilation, hemodinamic support, dyalitic techniques and ECMO, supported by highly specialized and qualified specialities, pediatric and adult teams
  • Biobank
  • Full rehabilitation service is available to outpatient, inpatient and home care basis.

Key resources:

  • CHLN has technical and scientific excellence capacity, allowing holistic multidisciplinary approach that gathers all the specialties (including neurology, cardiology, nephrology, obstetrics and genetics, intensive care, nuclear medicine, rehabilitation, among others), and health techniques (dietitians, psychologists, social assistants, …)
  • CHLN has established protocols with third party laboratories to provide additional support, such as the Center for Medical Genetics, the MetGen.iMed (Metabolism and Genetic Laboratory of the Farmacy Faculty) and the Newborn Screening, Metabolism and Genetic National Laboratory INSA, among others. These are all specialized in biochemical, enzymatic and molecular diagnosis of IMD with national and international accreditation. Genomed Lab integrated in Lisbon Academic Centre, has certified accreditation in molecular studies for IMD (specific and combined genetic panels)
  • Access to the highest imaging techniques as conventional radiology, contrasted radiography, ultrasounds, vascular flow assessment by doppler, nuclear magnetic resonance (MRI, MRS) with possibility of evaluation of the metabolic profile by spectroscopy, axial tomography (TC), angiography (diagnostic and therapeutic), angioCT, angioMRI, CPRM, biopsies and cytology guided by ultrasound or CT scan. The tests conducted in pediatric age rely on the support of the anesthesia team designated for that purpose in residence scheme
  • Access to other Specialized Diagnostics:
    echocardiography, neurophysiology (EEG, EMG, VEP, SEP, AEP, NCV, BERA) pneumology (bronchoscopy, respiratory evaluation that includes spirometry, pletismography, CO diffusion, ergometry, sleep studies (Polissonography 1,2,3); behavioural study and neuropsychiatry, ophtalmology, cardiology, gastroenterology (pH monitoring, endoscopy, colonoscopy, H2 expired, biopsies (liver percutaneous, colon, stomach, esophageal and/or transendoscopic), neonatology (transfontanellar ultrasound, amplitude-integrated electroencephalography, acoustic otoemissions and evocated potentials); nephrology, urology, PED audiology, swallowing study, among others
  • Access 24/7 to the diagnostic and therapeutic techniques available in the Intensive Care Unit: transthoracic echocardiogram, abdominal and chest ultrasound, bronchoscopy, continuous monitoring electroencephalographic, invasive monitoring of blood pressure, central venous pressure, invasive intracranial pressure monitoring, NIRS, transcranial doppler, invasive ventilation (including HFOV and NAVA) and non-invasive (including NIV – NAVA), airway management in mucopolysaccharidoses, central venous and arterial catheterization, hemodinamic support, chest tubes application, hypothermia, technical renal replacement (HD and Continuos Hemodiafiltration), plasmapheresis, ECMO (extracorporeal membrane oxygenation)
  • CHLN facilities allows management of patients in outpatient, day care, admission and non-presential (by phone or e-mail) scenarios, with 24h/7 open access to both pediatric and adults emergency departments and 24h/7 on call MD pediatric and adult physicians
  • CHLN provides Daycare treatment facilities, properly equipped with human and technology providers, assuring that patient treatment takes place in qualified specific clinical areas, easily accessible, clean, comfortable, quiet and secure
  • 24/7 access to emergency room and chemistry, imagiology and physiology priority studies; to adult and pediatric ICU; to emergency dietitian and pharmacy support. Access to specific diet and orphan drugs
  • Access to social care organization for insurance counselling and orphan drug treatment, and supportive devices (wheelchairs, etc.), Rare Disease Card, rehab organization.

Ana Gaspar

Centro Hospitalar Lisboa Norte, E.P.E. , Lisboa, Portugal