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Extreme obesity with alveolar hypoventilation

MedGen UID:
18472
•Concept ID:
C0031880
•
Disease or Syndrome
Synonyms: Obesity Hypoventilation Syndrome; PICKWICKIAN SYNDROME
SNOMED CT: Pickwickian syndrome (190966007); Extreme obesity with alveolar hypoventilation (190966007)
 
Monarch Initiative: MONDO:0009763
OMIM®: 257500

Definition

Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately. [from MONDO]

Clinical features

From HPO
Obesity
MedGen UID:
18127
•Concept ID:
C0028754
•
Disease or Syndrome
Accumulation of substantial excess body fat.
See: Feature record | Search on this feature
Excessive daytime somnolence
MedGen UID:
1635612
•Concept ID:
C4551761
•
Sign or Symptom
A state of abnormally strong desire for sleep during the daytime.
See: Feature record | Search on this feature
Hypoventilation
MedGen UID:
469022
•Concept ID:
C3203358
•
Pathologic Function
A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).
See: Feature record | Search on this feature
Cyanosis
MedGen UID:
1189
•Concept ID:
C0010520
•
Sign or Symptom
Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVExtreme obesity with alveolar hypoventilation

Professional guidelines

PubMed

Evaluation and Management of Obesity Hypoventilation Syndrome. An Official American Thoracic Society Clinical Practice Guideline.
Mokhlesi B, Masa JF, Brozek JL, Gurubhagavatula I, Murphy PB, Piper AJ, Tulaimat A, Afshar M, Balachandran JS, Dweik RA, Grunstein RR, Hart N, Kaw R, Lorenzi-Filho G, Pamidi S, Patel BK, Patil SP, Pépin JL, Soghier I, Tamae Kakazu M, Teodorescu M
Am J Respir Crit Care Med 2019 Aug 1;200(3):e6-e24. doi: 10.1164/rccm.201905-1071ST. PMID: 31368798Free PMC Article
Chronic hypoventilation and its management.
Simonds AK
Eur Respir Rev 2013 Sep 1;22(129):325-32. doi: 10.1183/09059180.00003113. PMID: 23997060Free PMC Article
Central sleep apnea: Pathophysiology and treatment.
Eckert DJ, Jordan AS, Merchia P, Malhotra A
Chest 2007 Feb;131(2):595-607. doi: 10.1378/chest.06.2287. PMID: 17296668Free PMC Article

Curated

UK NICE Guideline NG202, Obstructive sleep apnoea/hypopnoea syndrome and obesity hypoventilation syndrome in over 16s, 2021

Recent clinical studies

Etiology

Unraveling the mystery: a Mendelian randomized exploration of gut microbiota and different types of obesity.
Liu S, Li F, Cai Y, Ren L, Sun L, Gang X, Wang G
Front Cell Infect Microbiol 2024;14:1352109. Epub 2024 Feb 5 doi: 10.3389/fcimb.2024.1352109. PMID: 38375360Free PMC Article

Diagnosis

Unraveling the mystery: a Mendelian randomized exploration of gut microbiota and different types of obesity.
Liu S, Li F, Cai Y, Ren L, Sun L, Gang X, Wang G
Front Cell Infect Microbiol 2024;14:1352109. Epub 2024 Feb 5 doi: 10.3389/fcimb.2024.1352109. PMID: 38375360Free PMC Article

Therapy

Unraveling the mystery: a Mendelian randomized exploration of gut microbiota and different types of obesity.
Liu S, Li F, Cai Y, Ren L, Sun L, Gang X, Wang G
Front Cell Infect Microbiol 2024;14:1352109. Epub 2024 Feb 5 doi: 10.3389/fcimb.2024.1352109. PMID: 38375360Free PMC Article

Clinical prediction guides

Unraveling the mystery: a Mendelian randomized exploration of gut microbiota and different types of obesity.
Liu S, Li F, Cai Y, Ren L, Sun L, Gang X, Wang G
Front Cell Infect Microbiol 2024;14:1352109. Epub 2024 Feb 5 doi: 10.3389/fcimb.2024.1352109. PMID: 38375360Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2021
      UK NICE Guideline NG202, Obstructive sleep apnoea/hypopnoea syndrome and obesity hypoventilation syndrome in over 16s, 2021

    Consumer resources

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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