Table 2.
Included cost-of-illness studies per disease
| Disease or group of diseases | Prevalence | Number of studies | References |
|---|---|---|---|
| Amyotrophic lateral sclerosis (ALS) | 1–9/100,000 | 8 | [11, 12, 19, 24, 34, 41, 48, 62] |
| Haemophilia | 1–9/100,000 | 7 | [21, 28, 44, 49, 51, 66, 69] |
| Duchenne muscular dystrophy | 1–9/100,000 | 5 | [34, 54, 55, 60, 61] |
| Cystic fibrosis | 1–9/100,000 | 4 | [30, 46, 63, 71] |
| Chronic inflammatory demyelinating polyradiculoneuropathy | 1–9/100,000 | 3 | [13, 42, 43] |
| Idiopathic pulmonary fibrosis | 1–5/10,000 | 2 | [68, 72] |
| Juvenile idiopathic arthritis (JIA) | 1–9/100,000 | 2 | [31, 45] |
| Prader-Willi syndrome | 1–9/100,000 | 2 | [37, 56] |
| Systemic sclerosis | 1–5/10,000 | 2 | [22, 38] |
| Tuberous sclerosis complex | 1–5/10,000 | 2 | [29, 58] |
| Achalasia (Idiopathic achalasia) | 1–9/100,000 | 1 | [47] |
| Acromegaly | 1–9/100,000 | 1 | [35] |
| Autosomal dominant polycystic kidney disease | 1–5/10,000 | 1 | [16] |
| Becker muscular dystrophy | 1–9/100,000 | 1 | [54] |
| Behçet’s syndrome | 1–9/100,000 | 1 | [59] |
| Common variable immunodeficiency | 1–9/100,000 | 1 | [53] |
| Congenital hyperinsulinism | 1–9/100,000 | 1 | [15] |
| Cushing disease | 1–9/100,000 | 1 | [33] |
| Dermatomyositis | 1–9/100,000 | 1 | [32] |
| Dravet syndrome | 1–9/100,000 | 1 | [64] |
| Epidermolysis bullosa | 1–9/100,000 | 1 | [10] |
| Fragile x syndrome | 1–5/10,000 | 1 | [70] |
| Frontotemporal degeneration | 1–5/10,000 | 1 | [18] |
| Guillain-Barré syndrome | 1–9/100,000 | 1 | [17] |
| Hereditary angioedema | 1–9/100,000 | 1 | [65] |
| Histiocytosis | 1–9/100,000 | 1 | [27] |
| Lysosomal acid lipase deficiency, Cholesteryl ester storage disease type | 1–9/100,000 | 1 | [20] |
| Mucopolysaccharidosis | Depends on the type* | 1 | [50] |
| Multifocal motor neuropathy | 1–9/100,000 | 1 | [42] |
| Multiple system atrophy | 1–9/100,000 | 1 | [67] |
| Myotonic dystrophy | 1–9/100,000 | 1 | [34] |
| Narcolepsy-cataplexy syndrome | 1–5/10,000 | 1 | [26] |
| Niemann-Pick disease type C | 1–9/100,000 | 1 | [25] |
| Paraproteinaemic demyelinating neuropathy | 1–9/100,000 | 1 | [42] |
| Pemphigus | Depends on the type ** | 1 | [23] |
| Phenylketonuria (PKU) | 1–5/10,000 | 1 | [14] |
| Primary childhood glaucoma and secondary childhood glaucoma | 1–9/100,000 | 1 | [36] |
| Progressive supranuclear palsy | 1–9/100,000 | 1 | [67] |
| Pulmonary arterial hypertension | 1–9/100,000 | 1 | [57] |
| Sarcoidosis | 1–5/10,000 | 1 | [52] |
| Spinal muscular atrophy | 1–9/100,000 | 1 | [39] |
| Spinocerebellar ataxias | 1–9/100,000 | 1 | [40] |
The sum is higher than 63 because 4 studies included more than one disease that fulfilled our inclusion criteria
*Type 1, Type 3, Type 6: 1–9/100,000; Type 2, Type 4: 1–5/10,000; Type 7: < 1 per million
**Superficial pemphigus: 1–9/100,000; pemphigus vulgaris: 1–5/10,000