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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.

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Excessive daytime somnolence

MedGen UID:: 1635612
•Concept ID:: C4551761
•: Sign or Symptom

A state of abnormally strong desire for sleep during the daytime.

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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).

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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.

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Abnormality of the integument
- Cyanosis
Abnormality of the nervous system
- Excessive daytime somnolence
Abnormality of the respiratory system
- Hypoventilation
Growth abnormality
- Obesity

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVExtreme obesity with alveolar hypoventilation

Phenotypic abnormality
- Abnormality of the respiratory system
  - Abnormal respiratory system physiology
    - Abnormal pattern of respiration
      - Hypoventilation
        Extreme 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: 31368798 Free PMC Article

Obesity and heart failure: epidemiology, pathophysiology, clinical manifestations, and management.

Alpert MA, Lavie CJ, Agrawal H, Aggarwal KB, Kumar SA
Transl Res 2014 Oct;164(4):345-56. Epub 2014 Apr 18 doi: 10.1016/j.trsl.2014.04.010. PMID: 24814682

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: 17296668 Free PMC Article

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Extreme obesity with alveolar hypoventilation

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Curated

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

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