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}}; {{AE}}{{MA}} [mailto:malihash@bidmc.harvard.edu] [mailto:malihash@bidmc.harvard.edu] [mailto:malihash@bidmc.harvard.edu] [mailto:malihash@bidmc.harvard.edu] [mailto:malihash@bidmc.harvard.edu] | ||
==Overview== | ==Overview== | ||
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*High-grade / low-grade fever | *High-grade / low-grade fever | ||
*[[Hypothermia]] / hyperthermia may be present | *[[Hypothermia]] / hyperthermia may be present | ||
*[[Tachycardia]] | *[[Tachycardia]] in acute hemolysis | ||
*[[Bradycardia]] with regular pulse or (ir)regularly irregular pulse | *[[Bradycardia]] with regular pulse or (ir)regularly irregular pulse | ||
*Tachypnea / bradypnea | *Tachypnea / bradypnea | ||
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===Skin=== | ===Skin=== | ||
* | * | ||
*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]] | * [[Pallor]] | ||
===HEENT=== | ===HEENT=== | ||
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===Abdomen=== | ===Abdomen=== | ||
*[[Abdominal distention]] | *[[Abdominal distention]] | ||
*[[Abdominal tenderness]] in the right | *[[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> | ||
*Splenomegaly maybe in severe hemolysis | |||
* | |||
* | * | ||
* | |||
* | |||
* Back examination of patients with [disease name] is usually normal. | * Back examination of patients with [disease name] is usually normal. | ||
OR | OR | ||
Revision as of 18:11, 24 August 2018
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Glucose-6-phosphate dehydrogenase deficiency Microchapters |
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Differentiating Glucose-6-phosphate dehydrogenase deficiency from other Diseases |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mahda Alihashemi M.D. [2] [3] [4] [5] [6] [7]
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].
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 of patients with [disease name] 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
- Patients with [disease name] usually appear [general appearance].
Vital Signs
- High-grade / low-grade fever
- Hypothermia / hyperthermia may be present
- Tachycardia in acute hemolysis
- 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
HEENT
- HEENT examination of patients with [disease name] 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 examination of patients with [disease name] 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
- Pulmonary examination of patients with [disease name] 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
- Cardiovascular examination of patients with [disease name] 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
- S1
- S2
- S3
- S4
- 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
- Abdominal distention
- Abdominal tenderness in the right upper abdominal quadrant because of hyperbilirubinemia and cholelithiasis[2]
- Splenomegaly maybe in severe hemolysis
- 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
- Dark urine
- 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 examination of patients with [disease name] 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 examination of patients with [disease name] is usually normal.
OR
- Clubbing
- Cyanosis
- Pitting/non-pitting edema of the upper/lower extremities
- Muscle atrophy
- Fasciculations in the upper/lower extremity
References
- ↑ Luzzatto L, Arese P (January 2018). "Favism and Glucose-6-Phosphate Dehydrogenase Deficiency". N. Engl. J. Med. 378 (1): 60–71. PMID 29298156.
- ↑ 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.
Template:WH Template:WS Editor-In-Chief: C. Michael Gibson, M.S., M.D. [8]; Associate Editor(s)-In-Chief: Priyamvada Singh, M.D. [9]
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Overview
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an 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 broad beans, with a name derived from the Italian name of the broad bean (fava). Sometimes the name, favism, is alternatively used to refer to the enzyme deficiency as a whole.