Consensus recommendations on holistic care in hereditary ATTR amyloidosis: an international Delphi survey of patient advocates and multidisciplinary healthcare professionals.

BACKGROUND: Hereditary transthyretin-mediated amyloidosis is a rare, progressive and potentially life-limiting multisystem disease, affecting every aspect of a patient's life. OBJECTIVES: This online international Delphi survey aimed to evolve clinical-patient-led practical guidance, to inspire and encourage a holistic approach to care that is managed in specialist settings by multidisciplinary teams and supported by allied healthcare professionals (HCPs) and patient advocacy groups (PAGs). DESIGN: A 14-member joint patient advocate-HCP primary panel was convened including representation from PAGs and key clinical specialties (neurology, cardiology, internal medicine, physiotherapy, clinical psychology, dietetics and specialist nursing). Guidance evolved on the care provision needed to support seven core goals: early diagnosis and treatment; disease monitoring and organisation of care; maintenance of physical and mental health; family-centred care and caregiver support; patient-doctor dialogue; access to social support and social networking. PARTICIPANTS: From June to October 2022, 252 HCPs and 51 PAG representatives from 27 countries were invited to participate in a Delphi survey. Of the 122 respondents who answered at least one survey question, most were HCPs (100, 82%) from specialist centres; the remainder were PAG representatives (22, 18%). MAIN OUTCOME MEASURE: Both level of agreement and feasibility in practice of each recommendation was tested by two anonymised online Delphi voting rounds. RESULTS: Based on an a priori threshold for consensus of ≥75% agreement, the clinical-patient community endorsed all but one recommendation. However, only 17/49 (35%) recommendations were identified by most HCPs as a core part of routine care; the remainder (32/49 (65%)) were identified as part of core care by <50% of HCPs respondents, or as largely achievable by 30%-45% of HCPs. By comparison, PAGs recorded lower implementation levels. CONCLUSIONS: Further consideration is needed on how to evolve multidisciplinary services (supported by allied HCPs and PAGs) to address the complex needs of those affected by this disease.

Case Report of Tetrodotoxin Poisoning from Lagocephalus sceleratus in Lebanon.

The Indo-Pacific pufferfish Lagocephalus sceleratus is a tetrodotoxin-containing species believed to have entered the Mediterranean Sea through the Suez Canal. Tetrodotoxin (TTX) is primarily found in the liver, intestine, and ovaries of L. sceleratus. We report a case of a patient with TTX poisoning from L. sceleratus consumption in Lebanon. History of ingestion, clinical presentation, and exam findings were obtained during phone-based consultation with the patient and intensive care physician. A 46-year-old male presented to a hospital in Lebanon with perioral and extremity numbness as well as dizziness 1 h after ingestion of an L. sceleratus fish. He had caught and prepared the fish himself and had eaten a skinless piece of flesh. Over the following 6 h he also developed ataxia and generalized body numbness. His treatment included systemic hydrocortisone, antihistamine, activated charcoal, and fluids. He was admitted to the intensive care unit, where he developed self-limited, stable sinus bradycardia. He was discharged home on hospital day 5 with residual lightheadedness that improved over several days. This is one of the first reported cases of tetrodotoxin poisoning due to L. sceleratus in Lebanon. Public awareness regarding the toxicity of this species after any ingestion is essential to prevent toxicity and death.