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Table 2 Included cost-of-illness studies per disease

From: Cost-of-illness studies in rare diseases: a scoping review

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]

  1. The sum is higher than 63 because 4 studies included more than one disease that fulfilled our inclusion criteria
  2. *Type 1, Type 3, Type 6: 1–9/100,000; Type 2, Type 4: 1–5/10,000; Type 7: < 1 per million
  3. **Superficial pemphigus: 1–9/100,000; pemphigus vulgaris: 1–5/10,000