Glucose-6-phosphate dehydrogenase deficiency physical examination: Difference between revisions

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{{Glucose-6-phosphate dehydrogenase deficiency}}
{{Glucose-6-phosphate dehydrogenase deficiency}}


{{CMG}}; {{AE}}{{MA}} [mailto:malihash@bidmc.harvard.edu] [mailto:malihash@bidmc.harvard.edu] [mailto:malihash@bidmc.harvard.edu] [mailto:malihash@bidmc.harvard.edu]
{{CMG}} {{shyam}}; {{AE}}{{MA}}  
 
==Overview==
==Overview==
Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
Patients with G6PD deficiency usually appear normal. Physical examination of patients with G6PD deficiency is usually remarkable for jaundice in hemolysis and [[abdominal tenderness]] in the right upper abdominal quadrant because of hyperbilirubinemia.
 
OR
 
Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
 
OR
 
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].


==Physical Examination==
==Physical Examination==
Physical examination of patients with [disease name] is usually normal.
Physical examination of patients with G6PD deficiency is usually normal.
 
OR
 
Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
 
OR
 
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
 
OR
 
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].


===Appearance of the Patient===
===Appearance of the Patient===
*Patients with [disease name] usually appear [general appearance].  
*Patients with G6PD deficiency usually appear normal.  


===Vital Signs===
===Vital Signs===


*High-grade / low-grade fever
*[[Tachycardia]] in acute hemolysis
*[[Hypothermia]] / hyperthermia may be present
*[[Tachypnea]] due to anemia
*[[Tachycardia]] with regular pulse or (ir)regularly irregular pulse
*[[Bradycardia]] with regular pulse or (ir)regularly irregular pulse
*Tachypnea / bradypnea
*Kussmal respirations may be present in _____ (advanced disease state)
*Weak/bounding pulse / pulsus alternans / paradoxical pulse / asymmetric pulse
*High/low blood pressure with normal pulse pressure / [[wide pulse pressure]] / [[narrow pulse pressure]]


===Skin===
===Skin===
* Skin examination of patients with [disease name] is usually normal.
OR
*[[Cyanosis]]
*[[Jaundice]]<ref name="pmid29298156">{{cite journal |vauthors=Luzzatto L, Arese P |title=Favism and Glucose-6-Phosphate Dehydrogenase Deficiency |journal=N. Engl. J. Med. |volume=378 |issue=1 |pages=60–71 |date=January 2018 |pmid=29298156 |doi= |url=}}</ref>
* [[Pallor]]
* Bruises
<gallery widths="150px">
UploadedImage-01.jpg | Description {{dermref}}
UploadedImage-02.jpg | Description {{dermref}}


</gallery>
*Jaundice in hemolysis  <ref name="pmid29298156">{{cite journal |vauthors=Luzzatto L, Arese P |title=Favism and Glucose-6-Phosphate Dehydrogenase Deficiency |journal=N. Engl. J. Med. |volume=378 |issue=1 |pages=60–71 |date=January 2018 |pmid=29298156 |doi= |url=}}</ref>
*Pallor


===HEENT===
===HEENT===
* HEENT examination of patients with [disease name] is usually normal.
* HEENT examination of patients with G6PD deficiency is usually normal
OR
* Abnormalities of the head/hair may include ___
* Evidence of trauma
* Icteric sclera
* [[Nystagmus]]
* Extra-ocular movements may be abnormal
*Pupils non-reactive to light / non-reactive to accommodation / non-reactive to neither light nor accommodation
*Ophthalmoscopic exam may be abnormal with findings of ___
* Hearing acuity may be reduced
*[[Weber test]] may be abnormal (Note: A positive Weber test is considered a normal finding / A negative Weber test is considered an abnormal finding. To avoid confusion, you may write "abnormal Weber test".)
*[[Rinne test]] may be positive (Note: A positive Rinne test is considered a normal finding / A negative Rinne test is considered an abnormal finding. To avoid confusion, you may write "abnormal Rinne test".)
* [[Exudate]] from the ear canal
* Tenderness upon palpation of the ear pinnae/tragus (anterior to ear canal)
*Inflamed nares / congested nares
* [[Purulent]] exudate from the nares
* Facial tenderness
* Erythematous throat with/without tonsillar swelling, exudates, and/or petechiae
 
===Neck===
===Neck===
* Neck examination of patients with [disease name] is usually normal.
* Neck examination of patients with G6PD deficiency is usually normal
OR
*[[Jugular venous distension]]
*[[Carotid bruits]] may be auscultated unilaterally/bilaterally using the bell/diaphragm of the otoscope
*[[Lymphadenopathy]] (describe location, size, tenderness, mobility, and symmetry)
*[[Thyromegaly]] / thyroid nodules
*[[Hepatojugular reflux]]
 
===Lungs===
===Lungs===
* Pulmonary examination of patients with [disease name] is usually normal.
* Pulmonary examination of patients with G6PD deficiency is usually normal
OR
* Asymmetric chest expansion OR decreased chest expansion
*Lungs are hyporesonant OR hyperresonant
*Fine/coarse [[crackles]] upon auscultation of the lung bases/apices unilaterally/bilaterally
*Rhonchi
*Vesicular breath sounds OR distant breath sounds
*Expiratory wheezing OR inspiratory wheezing with normal OR delayed expiratory phase
*[[Wheezing]] may be present
*[[Egophony]] present/absent
*[[Bronchophony]] present/absent
*Normal/reduced [[tactile fremitus]]
 
===Heart===
===Heart===
* Cardiovascular examination of patients with [disease name] is usually normal.
* Cardiovascular examination of patients with G6PD deficiency is usually normal
OR
*Chest tenderness upon palpation
*PMI within 2 cm of the sternum  (PMI) / Displaced point of maximal impulse (PMI) suggestive of ____
*[[Heave]] / [[thrill]]
*[[Friction rub]]
*[[Heart sounds#First heart tone S1, the "lub"(components M1 and T1)|S1]]
*[[Heart sounds#Second heart tone S2 the "dub"(components A2 and P2)|S2]]
*[[Heart sounds#Third heart sound S3|S3]]
*[[Heart sounds#Fourth heart sound S4|S4]]
*[[Heart sounds#Summation Gallop|Gallops]]
*A high/low grade early/late [[systolic murmur]] / [[diastolic murmur]] best heard at the base/apex/(specific valve region) may be heard using the bell/diaphgram of the stethoscope
 
===Abdomen===
===Abdomen===
* Abdominal examination of patients with [disease name] is usually normal.
OR
*[[Abdominal distention]]  
*[[Abdominal distention]]  
*[[Abdominal tenderness]] in the right/left upper/lower abdominal quadrant  
*[[Abdominal tenderness]] in the right upper abdominal quadrant because of hyperbilirubinemia and cholelithiasis<ref name="pmid23801924">{{cite journal |vauthors=Arese P, Gallo V, Pantaleo A, Turrini F |title=Life and Death of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficient Erythrocytes - Role of Redox Stress and Band 3 Modifications |journal=Transfus Med Hemother |volume=39 |issue=5 |pages=328–34 |date=October 2012 |pmid=23801924 |pmc=3678266 |doi=10.1159/000343123 |url=}}</ref>
*[[Rebound tenderness]] (positive Blumberg sign)
*Splenomegaly maybe in severe hemolysis
*A palpable abdominal mass in the right/left upper/lower abdominal quadrant
*Guarding may be present
*[[Hepatomegaly]] / [[splenomegaly]] / [[hepatosplenomegaly]]
*Additional findings, such as obturator test, psoas test, McBurney point test, Murphy test
 
===Back===
* Back examination of patients with [disease name] is usually normal.
OR
*Point tenderness over __ vertebrae (e.g. L3-L4)
*Sacral edema
*Costovertebral angle tenderness bilaterally/unilaterally
*Buffalo hump
 
===Genitourinary===
===Genitourinary===
* Dark urine
* Dark urine
 
* Genitourinary examination of patients with G6PD deficiency is usually normal
* Genitourinary examination of patients with [disease name] is usually normal.
OR
*A pelvic/adnexal mass may be palpated
*Inflamed mucosa
*Clear/(color), foul-smelling/odorless penile/vaginal discharge
 
===Neuromuscular===
===Neuromuscular===
* Neuromuscular examination of patients with [disease name] is usually normal.
* Neuromuscular examination of patients with G6PD deficiency is usually normal
OR
*Patient is usually oriented to persons, place, and time
* Altered mental status
* Glasgow coma scale is ___ / 15
* Clonus may be present
* Hyperreflexia / hyporeflexia / areflexia
* Positive (abnormal) Babinski / plantar reflex unilaterally/bilaterally
* Muscle rigidity
* Proximal/distal muscle weakness unilaterally/bilaterally
* ____ (finding) suggestive of cranial nerve ___ (roman numerical) deficit (e.g. Dilated pupils suggestive of CN III deficit)
*Unilateral/bilateral upper/lower extremity weakness
*Unilateral/bilateral sensory loss in the upper/lower extremity
*Positive straight leg raise test
*Abnormal gait (describe gait: e.g. ataxic (cerebellar) gait / steppage gait / waddling gait / choeiform gait / Parkinsonian gait / sensory gait)
*Positive/negative Trendelenburg sign
*Unilateral/bilateral tremor (describe tremor, e.g. at rest, pill-rolling)
*Normal finger-to-nose test / Dysmetria
*Absent/present dysdiadochokinesia (palm tapping test)
 
===Extremities===
===Extremities===
* Extremities examination of patients with [disease name] is usually normal.
* Extremities examination of patients with G6PD deficiency is usually normal
OR
*[[Clubbing]]
*[[Cyanosis]]
*Pitting/non-pitting [[edema]] of the upper/lower extremities
*Muscle atrophy
*Fasciculations in the upper/lower extremity
 
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
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{{WS}}
{{WS}}
[[Category: (name of the system)]]
[[Category: (name of the system)]]
{{CMG}}; '''Associate Editor(s)-In-Chief:''' [[Priyamvada Singh|Priyamvada Singh, M.D.]] [mailto:psingh13579@gmail.com]
Please help WikiDoc by adding content here.  It's easy!  Click  [[Help:How to Edit a Page|here]]  to learn about editing.
==Overview==
'''Glucose-6-phosphate dehydrogenase (G6PD) deficiency''' is an [[Sex-linked|X-linked recessive]] [[hereditary disease]] featuring abnormally low levels of the [[G6PD]] enzyme, which plays an important role in [[red blood cell]] function. Individuals with the disease may exhibit non-immune [[hemolytic anemia]] in response to a number of causes. It is closely linked to '''[[favism]]''', a disorder characterized by a hemolytic reaction to consumption of [[Vicia faba|broad bean]]s, with a name derived from the [[Italian language|Italian]] name of the broad bean (''fava''). Sometimes the name, [[favism]], is alternatively used to refer to the enzyme
deficiency as a whole.
==References==
{{reflist|2}}
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Latest revision as of 23:24, 19 December 2018

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]; Associate Editor(s)-in-Chief: Mahda Alihashemi M.D. [3]

Overview

Patients with G6PD deficiency usually appear normal. Physical examination of patients with G6PD deficiency is usually remarkable for jaundice in hemolysis and abdominal tenderness in the right upper abdominal quadrant because of hyperbilirubinemia.

Physical Examination

Physical examination of patients with G6PD deficiency is usually normal.

Appearance of the Patient

  • Patients with G6PD deficiency usually appear normal.

Vital Signs

Skin

  • Jaundice in hemolysis [1]
  • Pallor

HEENT

  • HEENT examination of patients with G6PD deficiency is usually normal

Neck

  • Neck examination of patients with G6PD deficiency is usually normal

Lungs

  • Pulmonary examination of patients with G6PD deficiency is usually normal

Heart

  • Cardiovascular examination of patients with G6PD deficiency is usually normal

Abdomen

Genitourinary

  • Dark urine
  • Genitourinary examination of patients with G6PD deficiency is usually normal

Neuromuscular

  • Neuromuscular examination of patients with G6PD deficiency is usually normal

Extremities

  • Extremities examination of patients with G6PD deficiency is usually normal

References

  1. ↑ Luzzatto L, Arese P (January 2018). "Favism and Glucose-6-Phosphate Dehydrogenase Deficiency". N. Engl. J. Med. 378 (1): 60–71. PMID 29298156.
  2. ↑ Arese P, Gallo V, Pantaleo A, Turrini F (October 2012). "Life and Death of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficient Erythrocytes - Role of Redox Stress and Band 3 Modifications". Transfus Med Hemother. 39 (5): 328–34. doi:10.1159/000343123. PMC 3678266. PMID 23801924.

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