PracticeUpdate Conference Series - SSIEM 2018

Critical Care of AdultsWithMPS Involves Diverse Considerations Diverse considerations need to be factored into coordinated care plans of adults with mucopolysaccharidosis. E veryadultwithmucopolysaccharidosis (MPS) requires consideration of his or her surgical and medical needs,

system involvement and only minimal somatic involvement; coarse hair, hirsutism, mild hepatosplenomegaly, and an enlarged head; occasionally, mild dysostosis multiplex and joint stiffness; eventually, by age 8–10 years, profound retardation with severely disturbed social behaviour. ƒ ƒ Morquio syndrome (MPS IV). Findings on examination in the severe form include orthopedic involvement (for example, spondyloepiphyseal dysplasia) as the primary finding; preservation of intelligence; genu valgum, short stature, spinal curvature, odontoid hypoplasia, ligamentous laxity, and atlantoaxial instability. The mild form exhibits much slower progression of skeletal dysplasia. ƒ ƒ Maroteaux-Lamy syndrome (MPS VI). Features are very similar to those of MPS IH. ƒ ƒ Sly syndrome (MPS VII). Features are similar to those of MPS IH. Nonemergency surgical care for specific MPS may include ventriculoperitoneal shunting for hydrocephalus; corneal transplantation for corneal clouding; valve replacement for cardiovascular disease; tracheostomy for obstructive airway disease; carpal tunnel release for orthopedic conditions; soft tissue procedures to release hip, knee, and ankle contractures; hip containment surgeries; corrective osteotomy for progressive valgus deformity at the knee; and posterior spinal fusion. Dr. Stepien concluded that these cases show the diverse considerations that need to be factored into coordinated care plans of adults with MPS. When adult care clinicians possess limited practical skills in managing patients with the disorder, expertise can be sought from more experienced pediatric teams. Standardized approaches, including input from pediatric and adult experts familiar with the surgical and medical needs of patients with MPS as well as individualized support, should be considered for every adult with the disorder.

MPS involves the defective activity of the lysosomal enzymes, which blocks degradation of mucopolysaccharides and leads to abnormal accumulation of heparan sulfate, dermatan sulfate, and keratan sulfate. Subclassifications are: ƒ ƒ Hurler syndrome (MPS IH). Findings on examination may include corneal clouding, hepatosplenomegaly, skeletal deformities (dysostosis multiplex), coarse facial features, large tongue, prominent forehead, joint stiffness, and short stature; upper airway obstruction, recurrent ear infections, noisy breathing, and persistent nasal discharge; hirsutism, hearing loss, hydrocephalus, and mental retardation.

including support from pediatric teams, results of a case report of nine patients show. K.M. Stepien, MD, of the Salford Royal National Health Services Trust in Salford, UK, presented a series of critical care cases to highlight challenges and practical solutions to optimize care of adult patients with MPS. A total of 9 cases (MPS I, II, IVa, and VI) in patients age 21–37 years were provided by four leading inherited metabolic disease centers in Europe. Critical care situations included surgical procedures (spinal decompression, cardiac valve or

" When adult care clinicians possess limited practical skills in managing patients with the disorder, expertise can be sought frommore experienced pediatric teams. "

corneal replacement, and tracheostomy), pregnancy, and a thrombus in a port- a-cath. Major surgical challenges included managing complex cardiac and respiratory dysfunction, and short stature, in the context of limited clinical expertise in MPS. These challenges were resolved involving pediatric and adult care specialists with expertise in the disorder, from external centers, when needed. Medical challenges included disrupted enzyme replacement therapy during pregnancy, which resulted in an increased risk of infection. Regular follow-up and antibiotics were used to address this disruption. A thrombus in a port-a-cath was resolved by inserting a Hickman line. Sterile methods and patient support were applied in the insertion. Management of MPS is evolving as patients increasingly survive to adulthood due to earlier diagnosis, treatment availability, and multidisciplinary care. MPS can lead to a range of critical clinical situations, however, in adult patients.

ƒ ƒ Hurler-Scheie syndrome (MPS I-H/S). Findings on examination may include milder features; normal intelligence and micrognathia; corneal clouding, joint stiffness, and heart disease. ƒ ƒ Scheie syndrome (MPS IS). Findings on examination may include aortic valve disease, corneal clouding, and joint stiffness; normal intelligence and stature. ƒ ƒ Hunter syndrome (MPS II). Findings on examination in the severe form include pebbly ivory skin lesions on the back, arms, and thighs; coarse facial features, skeletal deformities, and joint stiffness; retinal degeneration with clear cornea and hydrocephalus, mental retardation, and aggressive behavior. Findings in the mild form include similar features, but with much slower progression; normal intelligence and no hydrocephalus; hearing impairment and loss of hand function. ƒ ƒ Sanfilippo syndrome (MPS III). This most common mucopolysaccharidosis disorder may include findings on examination of severe central nervous

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SSIEM 2018 • PRACTICEUPDATE CONFERENCE SERIES