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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.
Excessive daytime somnolence
MedGen UID:
1635612
Concept ID:
C4551761
Sign or Symptom
A state of abnormally strong desire for sleep during the daytime.
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).
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.

Term Hierarchy

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

Professional guidelines

PubMed

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
Simonds AK
Eur Respir Rev 2013 Sep 1;22(129):325-32. doi: 10.1183/09059180.00003113. PMID: 23997060Free PMC Article
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

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

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

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

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

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