Hereditary spherocytosis physical examination: Difference between revisions

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{{Hereditary spherocytosis}}
{{Hereditary spherocytosis}}
{{CMG}} {{AE}}
{{CMG}} {{shyam}} {{AE}}


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==Overview==
==Overview==
The majority of affected individuals have mild or moderate hemolysis or hemolytic anemia and a known family history, making diagnosis and treatment relatively straightforward.<ref name="pmid15287938">{{cite journal| author=Bolton-Maggs PH, Stevens RF, Dodd NJ, Lamont G, Tittensor P, King MJ et al.| title=Guidelines for the diagnosis and management of hereditary spherocytosis. | journal=Br J Haematol | year= 2004 | volume= 126 | issue= 4 | pages= 455-74 | pmid=15287938 | doi=10.1111/j.1365-2141.2004.05052.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15287938  }}</ref>Individuals with significant severe hemolysis may develop additional complications such as jaundice/hyperbilirubinemia, folate deficiency, or splenomegaly.
The [[physical examination]] findings in [[hereditary spherocytosis]] include; [[Sclera|scleral]] [[icterus]], [[jaundice]], [[splenomegaly]]. [[Right upper quadrant abdominal pain resident survival guide|Right upper quadrant abdominal pain]] may be elicited if [[gallbladder]] [[disease]] is present.


==Physical Examination==
==Physical Examination==
* [[Splenomegaly]] is the rule in [[Hereditary spherocytosis|HS]]. Palpable [[Spleen|spleens]] have been detected in more than 75% of affected subjects. The [[liver]] is normal in size and function.
* The [[physical examination]] findings in [[hereditary spherocytosis]] include:<ref name="PerrottaGallagher2008">{{cite journal|last1=Perrotta|first1=Silverio|last2=Gallagher|first2=Patrick G|last3=Mohandas|first3=Narla|title=Hereditary spherocytosis|journal=The Lancet|volume=372|issue=9647|year=2008|pages=1411–1426|issn=01406736|doi=10.1016/S0140-6736(08)61588-3}}</ref>
 
** [[Sclera|scleral]] [[icterus]]
* Other important clues are [[jaundice]] and upper right abdominal pain indicative of [[gallbladder disease]]. This is especially important if the patient has a family history of [[Gallbladder disease|gallbladder disease.]]  
** [[jaundice]]
* Any patient who presents with profound and sudden [[anemia]] and [[reticulocytopenia]] with the aforementioned physical findings also should have [[Hereditary spherocytosis|HS]] in the differential diagnosis.
** [[splenomegaly]]
 
* [[Palpation|Palpable]] [[Spleen|spleens]] have been detected in more than 75% of affected subjects. The [[liver]] is normal in size and [[Function (biology)|function]].
== Physical Examination[edit | edit source] ==
* Another important clue is [[Right upper quadrant abdominal pain resident survival guide|right upper quadrant abdominal pain]] indicative of [[gallbladder disease]]. This is especially important if the [[patient]] has a [[family history]] of [[Gallbladder disease|gallbladder disease.]]  
* Congenital malformations are the most common presenting features of FA.
* Any [[patient]] who presents with profound and sudden [[anemia]] and [[reticulocytopenia]] with the aforementioned [[Physical examination|physical findings]] also should have [[Hereditary spherocytosis|hereditary spherocytosis]] in the [[differential diagnosis]].<ref name="pmid15287938">{{cite journal| author=Bolton-Maggs PH, Stevens RF, Dodd NJ, Lamont G, Tittensor P, King MJ et al.| title=Guidelines for the diagnosis and management of hereditary spherocytosis. | journal=Br J Haematol | year= 2004 | volume= 126 | issue= 4 | pages= 455-74 | pmid=15287938 | doi=10.1111/j.1365-2141.2004.05052.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15287938  }}</ref>
 
=== Appearance of the Patient[edit | edit source] ===
* Patients with FA usually present with hypo/hyperpigmentation, café-au-lait spots, short staure and thumb or other radial abnormalities.
 
=== Vital Signs[edit | edit source] ===
* Usually normal sometime patients present with fever due to superimposed infection.
 
=== Skin[edit | edit source] ===
* Skin abnormalities in Fanconi anemia can include generalized hyperpigmentation on the trunk, neck, and intertriginous areas, the aforementioned café au lait spots, and hypopigmented areas. Delicate features can also be characteristic of patients.
 
=== HEENT[edit | edit source] ===
* Head and face - Microcephaly, hydrocephalus, micrognathia, peculiar face, bird face, flat head, frontal bossing, scaphocephaly, sloped forehead, choanal atresia.
* Eyes - Small, strabismus, epicanthal folds, hypertelorism, ptosis, slanted, cataracts, astigmatism, blindness, epiphora, nystagmus, proptosis, small iris
* Ears - Deaf (usually conductive), abnormal shape, atresia, dysplasia, low-set, large, small, infections, abnormal middle ear, absent drum, dimples, rotated, canal stenosis
 
=== Neck[edit | edit source] ===
* Neck - Sprengel abnormality, short, low hairline, webbed
 
=== Lungs[edit | edit source] ===
* No significant chest findings present usually.
 
=== Heart[edit | edit source] ===
* No significant CVS findings present usually.
 
=== Abdomen[edit | edit source] ===
GI system - High-arch palate, atresia (eg, esophagus, duodenum, jejunum), imperforate anus, tracheoesophageal fistula, Meckel diverticulum, umbilical hernia, hypoplastic uvula, abnormal biliary ducts, megacolon, abdominal diastasis, Budd-Chiari syndrome
 
'''BACK'''
 
Neck - Sprengel abnormality, short, low hairline, webbed.
 
Spine - Spina bifida (thoracic, lumbar, cervical, occult sacral), scoliosis, abnormal ribs, sacrococcygeal sinus, Klippel-Feil syndrome, vertebral anomalies, extra vertebrae.
 
=== Genitourinary[edit | edit source] ===
* Gonads may display the following abnormalities:
* Males - Hypogenitalia, undescended testes, hypospadias, abnormal or absent testis, atrophic testes, azoospermia, phimosis, abnormal urethra, micropenis, delayed development
* Females - Hypogenitalia; bicornuate uterus; aplasia of uterus and vagina; atresia of uterus, vagina, or ovary/ovaries
 
=== Neuromuscular[edit | edit source] ===
Neuromuscular findings are non significant.
 
=== Extremities[edit | edit source] ===
'''Upper limb abnormalities''' can include the following features:
* Thumbs - Absent or hypoplastic, supernumerary, bifid, rudimentary, short, low set, attached by a thread, triphalangeal, tubular, stiff, hyperextensible
* Radii - Absent or hypoplastic (only with abnormal thumbs [ie, terminal defects]), absent or weak pulse
* Hands - Clinodactyly, hypoplastic thenar eminence, 6 fingers, absent first metacarpal, enlarged abnormal fingers, short fingers
* Ulnae - Dysplastic
 
==== '''Lower limb Abnormalities''' can include the following features:[edit | edit source] ====
* Feet - Toe syndactyly, abnormal toes, flat feet, short toes, clubfoot, 6 toes
* Legs - Congenital hip dislocation, Perthes disease, coxa vara, abnormal femur, thigh osteoma, abnormal legs.
*


==References==
==References==

Latest revision as of 02:21, 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:


Overview

The physical examination findings in hereditary spherocytosis include; scleral icterus, jaundice, splenomegaly. Right upper quadrant abdominal pain may be elicited if gallbladder disease is present.

Physical Examination

References

  1. Perrotta, Silverio; Gallagher, Patrick G; Mohandas, Narla (2008). "Hereditary spherocytosis". The Lancet. 372 (9647): 1411–1426. doi:10.1016/S0140-6736(08)61588-3. ISSN 0140-6736.
  2. Bolton-Maggs PH, Stevens RF, Dodd NJ, Lamont G, Tittensor P, King MJ; et al. (2004). "Guidelines for the diagnosis and management of hereditary spherocytosis". Br J Haematol. 126 (4): 455–74. doi:10.1111/j.1365-2141.2004.05052.x. PMID 15287938.

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