Centro Hospitalar Universitário de Lisboa Central

SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs

RC-IMD-CHULC provides services in the field of genetic, acute care, ambulatory, diagnosis, interventional therapeutic, rehabilitation, social work and palliative care.

Genetic Service

RC-IMD-CHULC has a Medical Genetics Department:

• Molecular diagnosis is offered to all patients with a clinical diagnosis of a metabolic disorder in order to clarify etiologic diagnosis and confirm the genetic diagnosis. Genetic testing is offered in collaboration with external certified laboratories all across the country. Sanger Sequencing is performed mainly for monogenic mendelian metabolic diseases while Next generation Sequencing (NGS) gene panels are performed for complex disorders with overlapping phenotype. Clinical exome is performed in complex cases without diagnosis through NGS panels or in cases of severe disorder meant for clinical management medical decisions. Copy number analysis is available through either microarray, MLPA or qPCR, depending on the gene and technique available.
• Genetic counselling is offered and available to all patients and families with a genetic disease, either suspected or confirmed. Cascade screening for at risk family members is available upon request. Reproductive options are offered to all couples and patients with a genetic confirmed disease and are available through Prenatal diagnosis (PND) or Preimplantation genetic diagnosis (PGD).
• PND is offered to couples with elevated risk of genetic disorders in offspring in collaboration with Prenatal Diagnosis Center of Dr Alfredo da Costa, Maternity, integrated in CHULC. PND is available either through chorionic villus sampling or through amniocentesis. In case of a severe disorder diagnosed in the fetus, depending on the will of the couple, termination of pregnancy is possible until 24 weeks of pregnancy.
• PGD is available to all couples with elevated risk of genetic disorders in offspring in collaboration with São João Hospital Center of NHS, localized in Oporto.

Acute Care

RC-IMD-CHULC is integrated in the Nacional Urgency and Emergency Network and has Emergency Service open 24 h/day for children and adults, providing all medical (Pediatrics, Internal Medicine, Cardiology, Neurology, Gastroenterology, Psychiatry, Hematology, Nephrology, Immunohemotherapy, Anesthesiology) and surgery specialities (Gynecology, Obstetrics, Orthopedics, Urology, Ophthalmology, Otorhinolaryngology, Neurosurgery Vascular, Cardiothoracic, Maxillofacial, Vertebro-medular, Plastic and General Surgeries).

• The CHULC has Intensive Care Units for neonatal, pediatric and adult patients supported by highly specialized and qualified pediatric and adult teams.
• The CHULC has 24-hour availability for urgent biochemical determinations and protocol access for urgent metabolic exams – amino acids, acylcarnitines, organic acids – enzymatic and genetic tests with specialized and accredited national laboratories, that ensures an answer in 8 to 24 hours.
• The CHULC has several diagnostic and therapeutic techniques, namely: transthoracic echocardiogram, abdominal and chest ultrasound, bronchoscopy, continuous monitoring electroencephalographic, invasive monitoring of blood pressure, central venous pressure, invasive intracranial pressure monitoring, transcranial doppler, invasive and non-invasive ventilation, central venous and arterial catheterization, hemodinamic support, chest tubes application, hypothermia, dialysis techniques (hemodyalisis and continuous hemodiafiltration), plasmapheresis, ECMO (extracorporeal membrane oxygenation).
• The Pharmacy Services of CHULC provides specific drugs for metabolic emergencies (cofactors, toxic scavengers, and orphan drugs) all around the clock.
• Guidelines concerning procedures for emergency/urgent metabolic situations are available in CHULC and patients are provided with a report with personalized information.

Ambulatory Services

The Outpatient Clinics of RC-IMD-CHULC have a multidisciplinary schedule in order for the patients to be observed in several specialties in the same day and preform metabolic control whenever necessary.

• The CHULC has a Day Care Unit, where patients with LSD receive intravenous treatments, namely enzyme replacement therapy.
• The CHULC has an ambulatory care unit (UMAD) composed by clinicians, nurses and physiotherapists, assuring home technical support, and care to patients and their families, reducing hospital visits need, monitoring and delivering therapy at home.

Diagnostic Services

RC-IMD-CHULC has a core multidisciplinary team of health professionals that includes paediatricians, internists, child neurologists, clinical genetics, pharmacists, nurses, psychologists, nutritionists, physical therapists and social workers. The extended multidisciplinary team includes specialized physicians of Cardiology, Neurology, Pneumology, Gastroenterology, Ophthalmology, Otorhinolaryngology, Surgery, Orthopedics, Neurosurgery, Physical Medicine and Rehabilitation, Dermatology, Psychiatry, Immunohemotherapy, Anesthesiology, Stomatology, Immunoallergology, Rheumatology, Endocrinology, Gynecology, Urology, Nephrology, Hematology.

• The CHULC provides laboratory tests performed by Immunohaematology and Clinical Pathology and has protocols with specialized metabolic diagnostic laboratories for screening of metabolites in blood/ urine / cerebrospinal fluid, enzyme activity assays and DNA analysis (with INSA, CGM, IBMC and FFUL).
• The CHULC has access to imaging techniques as conventional radiology, contrasted radiography, ultrasounds including echocardiogram and transfontanellar, vascular flow assessment by doppler, nuclear magnetic resonance (MRI, MRS) with spectroscopy, axial tomography (TC), angiography (diagnostic and therapeutic), angioCT, angioMRI, CPRM, biopsies and cytology guided by ultrasound or CT scan, scintigraphy and densitometry. The tests conducted in pediatric age rely on the support of the anesthesia team.
• The CHULC provides standard neurophysiological studies, continuous EEG monitoring, electroretinogram, visual evoked potentials, audiogram, tympanogram, auditory evoked potentials, continuous electrocardiographic monitoring, stress test, autonomic function.

Interventional Therapeutic Services

RC-IMD-CHULC provides the following Interventional Therapeutic Services:

• Individualized and specific nutritional treatment including low protein, low phenylalanine, low tyrosine, low leucine, low lysine, galactose-free, low fat, and ketogenic diet
• Cofactor supplementation (hydroxicobalamin, pyridoxin, riboflavin, thiamine, biotin, folic acid, tetrahydrobiopterin, carglumic acid, coenzyme Q10)
• Enzyme Replacement Therapy approved by EMA and INFARMED for Fabry disease, Gaucher disease, Pompe disease, Mucopolysaccharidoses (type I, II, IV and VI)
• Substrate Reduction Therapy for Gaucher disease and Niemann Pick type C
• All orphan drugs included in the emergency and/or maintenance treatment
• All dialysis techniques both in pediatric and adult care
• All surgical procedures, including neurosurgery (carpal tunnel decompression, cervical spine decompression, lumbar spine decompression and stabilization, ventricular peritoneal shunts), ophthalmology, otorhinolaryngology, orthopaedics, cardiothoracic surgery (heart, blood vessels and lungs)
• Interventional radiology for diagnosis and therapeutics procedures
• Pacemaker and implantable cardioverter defibrillator
• Liver, pancreatic, cardiac and pulmonary transplant (Institutional protocols for pediatric liver renal and hematopoietic transplant)
• Fiberoptic bronchoscopy and intubation
• Home non-invasive ventilatory support
• Audiological Rehabilitation.

Rehabilitation Services

RC-IMD-CHULC provides several Rehabilitation Services for children and adult, namely: physiotherapy, occupational therapy, speech therapy, respiratory kinesiotherapy, botulinum toxin for dystonia and spasticity, prescription of orthotic corsets, insoles, braces, splints, prosthesis, orthosis.

Social Care Services

RC-IMD-CHULC has Social Care Services that ensure support for patients from pediatric to adult age:

• Information about the social benefits to be requested
• Psychosocial intervention at individual, family and group level
• Articulation and referral to social resources in the local communities of reference; health education and information
• Mobilization, organization and coordination of entities relevant to the provision of health and social care
• Evaluation of the social support needs of the patients relevant to their full rehabilitation, promoting, in articulation with the competent entities, the necessary actions for its realization
• Participate with the discharge management teams, promoting the necessary contacts allowing the discharge of patients within the scope of the continuity of care process
• Evaluation of psychosocial factors that interfere with people’s health, with special attention to situations identified as risk and vulnerability, which preclude treatment rehabilitation
• Counselling and intervention in crisis situations for medical and/or social reasons
• Social advocacy in favour of the sick and family
• Promotion of social resources in articulation with local reference communities
• Collaborate in solving the problems of users/patients, as well as develop their full potential and enrich their lives, helping to prevent dysfunctions that may hinder their treatment and rehabilitation/cure with a view to their social reintegration
• Promote the right to self-determination and dignity
• Empower the patient and family to assume their responsibilities and participation in their own development in economic, social and cultural issues.

Palliative Care Services

RC-IMD-CHULC has a an Intrahospital Team of Palliative Care composed by physicians, nurses, social workers, psychologist and psychotherapist that ensures care for patients and their families in an ambulatory, hospitalized, phone or home care regimen. The Pediatric Palliative Care Support Team provides:

• Symptomatic control
• Help in decision making
• Communication with family and medical staff
• Care planning
• Coordination of hospital and community care (health center, continuing care team, school)
• Home support
• Psychosocial support for the family end of life care and mourning support

The CHULC is integrated in the National Network of Integrated Continuous Care.