Acute interstitial pneumonia

General Information (adopted from Orphanet):

Synonyms, Signs: FIBROSING ALVEOLITIS, CRYPTOGENIC
INTERSTITIAL PNEUMONITIS, USUAL
FIBROCYSTIC PULMONARY DYSPLASIA
UIP HAMMAN-RICH DISEASE, INCLUDED
AIP
Acute interstitial pneumonitis
Hamman-Rich syndrome
Number of Symptoms 38
OrphanetNr: 79126
OMIM Id: 178500
ICD-10: J84.1
UMLs: C0085786
C1279945
MeSH:
MedDRA: 10066728
Snomed: 196125002
236302005

Prevalence, inheritance and age of onset:

Prevalence: 3.8 of 100 000
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Idiopathic interstitial pneumonia
 -Rare respiratory disease

Comment:

Acute interstitial pneumonia (AIP) is characterized by acute respiratory failure and rapid progression (PMID:24755111). There is no sex predominance and it affects patients of any age, with a mean age of 50 years. AIP is characterized by bilateral lung infiltrates. Digital clubbing, often seen in patients with acute exacerbation of IPF, is not a feature of AIP and is therefore a useful clinical finding to separate these two disease entities (PMID:23001802).

Symptom Information: Sort by abundance 

1
(HPO:0012378) Fatigue Frequent [IBIS] 23316404 IBIS 50 / 7739
2
(HPO:0000961) Cyanosis 24755111 IBIS 60 / 7739
3
(HPO:0001649) Tachycardia 24755111 IBIS 53 / 7739
4
(HPO:0005537) Decreased mean platelet volume 24410308 IBIS 7 / 7739
5
(HPO:0001882) Leukopenia 24410308 IBIS 51 / 7739
6
(HPO:0100598) Pulmonary edema 23316404 IBIS 17 / 7739
7
(HPO:0003073) Hypoalbuminemia 23199976 IBIS 40 / 7739
8
(HPO:0001945) Fever 24755111 IBIS 218 / 7739
9
(HPO:0011227) Elevated C-reactive protein level 23199976 IBIS 55 / 7739
10
(HPO:0002206) Pulmonary fibrosis 23316404 IBIS 51 / 7739
11
(HPO:0012415) Abnormal blood gas level 24755111, 23199976, 24410308 IBIS 9 / 7739
12
(HPO:0002111) Restrictive deficit on pulmonary function testing 24424167 IBIS 25 / 7739
13
(HPO:0002094) Dyspnea Very frequent [IBIS] 23199976 IBIS 132 / 7739
14
(HPO:0002110) Bronchiectasis Occasional [IBIS] 23316404 IBIS 73 / 7739
15
(HPO:0002113) Pulmonary infiltrates Frequent [IBIS] 24844883 IBIS 36 / 7739
16
(HPO:0002795) Functional respiratory abnormality 24755111 IBIS 13 / 7739
17
(HPO:0002093) Respiratory insufficiency Very frequent [IBIS] 11481059 IBIS 410 / 7739
18
(HPO:0006515) Interstitial pneumonitis 24844883 IBIS 13 / 7739
19
(HPO:0002207) Diffuse reticular or finely nodular infiltrations 24844883 IBIS 11 / 7739
20
(HPO:0006530) Interstitial pulmonary disease Very frequent [IBIS] 24424167 IBIS 26 / 7739
21
(HPO:0012418) Hypoxemia 24755111 IBIS 18 / 7739
22
(HPO:0012417) Hypocapnia 24410308 IBIS 1 / 7739
23
(HPO:0012416) Hypercapnia 23199976 IBIS 2 / 7739
24
(HPO:0007340) Lower limb muscle weakness 24410308 IBIS 61 / 7739
25
(HPO:0003546) Exercise intolerance 23316404 IBIS 62 / 7739
26
(HPO:0012764) Orthopnea 24410308 IBIS 9 / 7739
27
(MedDRA:10025482) Malaise 24755111 IBIS 4 / 7739
28
(MedDRA:10063560) Excessive granulation tissue 24755111 IBIS 1 / 7739
29
(OMIM) Pulmonary fibrosis with fibroblast foci on histology 23001802 IBIS 3 / 7739
30
(OMIM) Radiograph shows ground glass appearance 24844883 IBIS 7 / 7739
31
(MedDRA:10064780) Breath sounds abnormal 24755111 IBIS 3 / 7739
32
(MedDRA:10001889) Alveolitis 23199976 IBIS 3 / 7739
33
(MedDRA:10037833) Rales 23316404 IBIS 4 / 7739
34
(HPO:0002878) Respiratory failure Very frequent [IBIS] 23316404 IBIS 57 / 7739
35
(MedDRA:10060902) Diffuse alveolar damage Very frequent [IBIS] 24755111 IBIS 1 / 7739
36
(MedDRA:10025080) Lung consolidation 24424167 IBIS 5 / 7739
37
(MedDRA:10049821) Urinary sediment present 24410308 IBIS 1 / 7739
38
(HPO:0012735) Cough Frequent [IBIS] 24755111 IBIS 24 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Idiopathic pulmonary fibrosis is one of a family of idiopathic pneumonias sharing clinical features of shortness of breath, radiographically evident diffuse pulmonary infiltrates, and varying degrees in inflammation, fibrosis, or both on lung biopsy. In some cases, the ...
Clinical Description OMIM McKusick and Fisher (1958) described 3 cases. Donohue et al. (1959) reported a Canadian family with 8 cases in 4 generations, and Rezek and Talbert (1962) reported father and daughter.

Jacox et al. (1964) described a ...

Molecular genetics OMIM - Mutation in the SFTPA2 Gene

In a 4-generation family segregating autosomal dominant IPF with or without lung cancer mapping to chromosome 10, Wang et al. (2009) sequenced the candidate genes SFTPA1 (178630) and SFTPA2 (178642) ...

Population genetics OMIM Hunninghake et al. (2013) examined chest CT scans of 2,633 individuals enrolled in the Framingham Heart Study and found that 177 of them (7%) had interstitial lung abnormalities, and that 47 (27%) of those could be classified as ...
Diagnosis GeneReviews The diagnosis of an idiopathic interstitial pneumonia (IIP) is established by the presence of all of the following findings, based on criteria published as a consensus statement [American Thoracic Society 2000, Travis et al 2002] and approved by the American Thoracic Society, the American College of Chest Physicians, and the European Respiratory Society: ...
Clinical Description GeneReviews The clinical symptoms, radiographic changes, pulmonary function testing abnormalities, and histopathologic findings of familial pulmonary fibrosis (FPF) need further definition; little of this information is known for familial cases as compared to simplex cases (i.e., a single occurrence in a family). ...
Genotype-Phenotype Correlations GeneReviews No genotype-phenotype correlations are known. ...
Differential Diagnosis GeneReviews Idiopathic pulmonary fibrosis (IPF) is an incurable disease with a five-year survival of 30%-50% from the time of diagnosis [American Thoracic Society 2000]. Although progress has been made in understanding the molecular and cellular events involved in idiopathic pulmonary fibrosis, the exact pathogenesis has yet to be determined. The initiating stimulus is unknown in the majority of individuals, and only a subset of individuals (5%-20%) exposed to known fibrogenic agents actually develop PF. ...
Management GeneReviews To establish the extent of disease in an individual diagnosed with idiopathic interstitial pneumonia (IIP), the following evaluations are recommended:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....