Table 3 Which of the following rare diseases have been seen or first diagnosed?
From: Poor education and urgent information need for emergency physicians about rare diseases in China
Rare diseases | Which of the following rare diseases have you seen? (n = 539) | Which of the following rare diseases have you first diagnosed? (n = 140) | ||
|---|---|---|---|---|
Idiopathic pulmonary arterial hypertension | 219 | 40.63% | 42 | 30% |
Idiopathic pulmonary fibrosis | 248 | 46.01% | 41 | 29.29% |
IgG4-related disease | 79 | 14.66% | 16 | 11.43% |
Lymphangioleiomyomatosis | 45 | 8.35% | 4 | 2.86% |
Marfan syndrome | 265 | 49.17% | 54 | 38.57% |
Multiple sclerosis | 223 | 41.37% | 34 | 24.29% |
POMES syndrome | 76 | 14.10% | 12 | 8.57% |
Porphyria | 143 | 26.53% | 24 | 17.14% |
Albinism | 204 | 37.85% | 27 | 19.29% |
Atypical haemolytic uraemic syndrome | 49 | 9.09% | 9 | 6.43% |
Autoimmune encephalitis | 157 | 29.13% | 30 | 21.43% |
Castleman disease | 42 | 7.79% | 3 | 2.14% |
Congenital scoliosis | 125 | 23.19% | 19 | 13.57% |
Diamond-Blackfan anaemia | 38 | 7.05% | 3 | 2.14% |
Fanconi anaemia | 35 | 6.49% | 3 | 2.14% |
Gaucher disease | 42 | 7.79% | 3 | 2.14% |
Generalized myasthenia gravis | 218 | 40.45% | 48 | 34.29% |
Glycogen storage disease | 51 | 9.46% | 2 | 1.43% |
Haemophilia | 252 | 46.75% | 30 | 21.43% |
Hepatolenticular degeneration | 157 | 29.13% | 32 | 22.86% |
Pulmonary alveolar proteinosis | 71 | 13.17% | 16 | 11.43% |
Amyotrophic lateral sclerosis | 115 | 21.34% | – | – |
Congenital myasthenic syndrome | 63 | 11.69% | – | – |
Huntington disease | 59 | 10.95% | – | – |
Idiopathic cardiomyopathy | 61 | 11.32% | – | – |
Langerhans cell histiocytosis | 74 | 13.73% | – | – |
Systemic sclerosis | 173 | 32.10% | – | – |
Others | 10 | 1.86% | 13 | 9.29% |