Hereditary thyroxine protein amyloidosis (ATTRv) is one of the most common forms of systemic and ocular amyloidosis, characterized by autosomal dominant inheritance, incomplete penetrance, and diverse manifestations. ATTRv deposition leads to visual impairment and even irreversible visual loss, which has a negative impact on the quality of life of patients. The diagnostic rate of pathological examination and genetic testing in ATTRv patients is low, and the detection rate of systemic amyloid lesions is low. We need to increase our awareness of this disease and gain a deeper understanding of its systemic manifestations and corresponding examination methods; genetic testing is conducted on the proband's family to investigate the relationship between different gene mutations and eye manifestations. In the future, multidisciplinary consultations can be conducted to jointly diagnose and treat patients with ATTRv eye involvement, conducting large-scale and long-term follow-up studies on the early clinical characteristics, treatment plans, efficacy, possible complications, and early prevention, in order to improve clinical diagnosis rate, reduce misdiagnosis rate, and improve patient prognosis.
ObjectiveTo analyze the epidemiological and clinical characteristics of severe cases of coronavirus disease 2019 (COVID-19) in order to provide reference for clinical diagnosis and treatment.MethodThe epidemiological histories, clinical characteristics, laboratory examinations, chest images, and treatment outcomes of 20 confirmed cases of severe COVID-19 admitted to Public Health Clinical Center of Chengdu from January 16th to February 5th, 2020 were retrospectively analyzed.ResultsAmong the 20 patients with severe COVID-19, 12 were male and 8 were female. The age ranged from 34 to 84 years old, with an average of (57.4±16.5) years old. Thirteen patients (65.0%) had one or more co-existing diseases, such as hypertension (9 cases), diabetes (6 cases), and coronary atherosclerotic heart disease (4 cases). Eleven cases (55.0%) had a history of living or traveling in Wuhan, 4 cases (20.0%) had a history of living in non-Wuhan areas of Hubei Province, 3 cases (15.0%) had a history of contact with confirmed COVID-19 patients, while 2 cases had no above-mentioned epidemiological history, but had a history of traveling in non-epidemic areas. The main symptoms were fever (100.0%), cough (100.0%), shortness of breath (75.0%), and fatigue (65.0). Some patients developed into acute respiratory distress syndrome in 3-10 d after onset. The white blood cell count of the patients was normal or decreased, the hypersensitive C-reactive protein and serum amyloid protein significantly increased, while the CD4+ T lymphocyte count and CD56+ natural killer cell count significantly decreased. Sixteen patients (80.0%) were given transnasal hyperbaric oxygenation [among whom 6 patients (30.0%) were transferred to non-invasive ventilator after no improvement], 3 patients (15.0%) were given tracheal intubated ventilator, and 1 patient (5.0%) was treated by tracheal intubated ventilator combined with extracorporeal membrane oxygenation to support breathing. By April 8th, 2020, 3 patients died and the remaining 17 had been cured and discharged, with an average length of hospital stay of 21.4 d. The 3 death cases were all elderly with underlying diseases such as heart disease and pulmonary disease.ConclusionsSevere COVID-19 is associated with hypertension, diabetes, heart disease, and other basic diseases, and some patients develope acute respiratory distress syndrome. Respiratory support may help to improve prognosis.