P0636 - Challenges of Transitioning From Pediatric to Adult Care in a Patient with Lipodystrophy Syndrome

Introduction:
Due to the advances in modern medicine, 90% of adolescents and young adults with special heath care needs (AYA-SHCN) survive into adulthood. The value of internal medicine-pediatrics (med-peds) training is exemplified during the transition of care (ToC) from pediatric to adult services of AYA-SHCN. This is demonstrated in the case of an 18-year-old woman with lipodystrophy syndrome (LDS) during her recent ToC experience.

Case Presentation:
At the age of eleven, this patient noticed an enlarging abdomen and wasting of her lower extremity bulk. Lipodystrophy was suspected based on her pattern of fat loss. Workup revealed transaminasemia and hypertriglyceridemia. A liver biopsy demonstrated non-alcoholic steatohepatitis (NASH). She was started on metreleptin for NASH in the setting of lipodystrophy. Despite improvement in the triglyceride level, metreleptin was discontinued due to her development of neutralizing antibodies against the synthetic hormone. Her course was complicated by autoimmune hepatitis, diabetes, persistent proteinuria, and chronic pancreatitis with pseudocyst formation requiring plasmapheresis for hypertriglyceridemia (Figure 1a,b). Chronic, non-terminal pain secondary to her pancreatitis led to chronic opioid use. Currently, she is on a trial of leptin receptor antagonist infusions with clinical improvement.

Discussion:
LDS is a rare group of disorders characterized by lack of subcutaneous fat. There is no definitive treatment for LDS. Complications include pancreatitis, renal impairment, steatohepatitis and diabetes. Thoughtful ToC for this patient was paramount given her LDS, co-morbidities, and numerous subspecialists. ToC is defined as a purposeful movement of AYA-SHCN from child-centered to adult-oriented health care. To optimize our patient’s transition process, the med-peds physicians; resident primary care physician (PCP) and attending, had a ToC meeting with the inpatient pediatric teams best acquainted with her case. The information from this meeting was helpful during the patient’s admission to the adult ward, which culminated with a warm hand off between her med-peds PCP and the inpatient resident. Med-peds providers, more than their internist counterparts, are comfortable with childhood-onset chronic medical conditions. The internal medicine training aids in chronic pain management given that opioid use is more common in the adult population. For example, only 0.8% of buprenorphine waivered clinicians identify as pediatricians. Compared to pediatric trainees, med-peds residents report more comfort in providing care to patients with chronic disease management. Considering the smaller number of med-peds graduates, improvement in ToC medicine must involve other specialist. Pediatricians can provide early education and assess for readiness via a transition readiness assessment questionnaire. Internists can assess self-management skills as patients gain more responsibility for their own medical care.

Conclusion:
LDS are rare and non-curative disorders that can manifest during adolescence. This case highlights the benefits of med-peds training during ToC while illustrating the need for best practices as the AYA-SCHN population grows.