Familial amyloidosis physical examination: Difference between revisions
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{{Familial amyloidosis}} | {{Familial amyloidosis}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{F.K}}{{Fs}} | ||
== Overview == | == Overview == | ||
[[Physical examination]] of [[Patient|patients]] with familial amyloidosis is usually remarkable for [[hypertension]], [[tachycardia]], waxy thickening, [[easy bruising]], [[purpura]], [[macroglossia]], [[parotid gland]] and [[submandibular gland]] enlargement, [[edema]], [[numbness]], [[hepatomegaly]] and [[paresthesia]]. | |||
==Physical Examination== | ==Physical Examination== | ||
[[Physical examination]] of patients | [[Physical examination]] of [[Patient|patients]] with familial amyloidosis is usually remarkable for [[hypertension]], [[tachycardia]], waxy thickening, [[easy bruising]], [[purpura]], [[macroglossia]], [[parotid gland]] and [[submandibular gland]] enlargement, [[edema]], [[numbness]], [[hepatomegaly]] and [[paresthesia]].<ref name="pmid267192344">{{cite journal |vauthors=Wechalekar AD, Gillmore JD, Hawkins PN |title=Systemic amyloidosis |journal=Lancet |volume=387 |issue=10038 |pages=2641–2654 |date=June 2016 |pmid=26719234 |doi=10.1016/S0140-6736(15)01274-X |url=}}</ref><ref name="pmid14660909">{{cite journal |vauthors=Pribitkin E, Friedman O, O'Hara B, Cunnane MF, Levi D, Rosen M, Keane WM, Sataloff RT |title=Amyloidosis of the upper aerodigestive tract |journal=Laryngoscope |volume=113 |issue=12 |pages=2095–101 |date=December 2003 |pmid=14660909 |doi=10.1097/00005537-200312000-00007 |url=}}</ref><ref name="pmid23239211">{{cite journal |vauthors=Shin SC, Robinson-Papp J |title=Amyloid neuropathies |journal=Mt. Sinai J. Med. |volume=79 |issue=6 |pages=733–48 |date=2012 |pmid=23239211 |pmc=3531896 |doi=10.1002/msj.21352 |url=}}</ref><ref name="pmid8599154">{{cite journal |vauthors=Sandgren O |title=Ocular amyloidosis, with special reference to the hereditary forms with vitreous involvement |journal=Surv Ophthalmol |volume=40 |issue=3 |pages=173–96 |date=1995 |pmid=8599154 |doi=10.1016/s0039-6257(95)80025-5 |url=}}</ref><br /> | ||
===Appearance of the Patient=== | ===Appearance of the Patient=== | ||
*Patients with amyloidosis usually appear normal. | *Patients with familial amyloidosis usually appear normal. | ||
===Vital signs=== | ===Vital signs=== | ||
* [[Hypertension]] | * [[Hypertension]] | ||
| Line 16: | Line 16: | ||
===Skin=== | ===Skin=== | ||
*Waxy thickening | *Waxy thickening | ||
*Easy bruising (ecchymoses) | *Easy [[bruising]] (ecchymoses) | ||
*Subcutaneous [[nodules]] or [[plaques]] | *Subcutaneous [[nodules]] or [[plaques]] | ||
*[[Purpura]] | *[[Purpura]] | ||
* [[Petechiae]] | * [[Petechiae]] | ||
*[[Edema]] | *[[Edema]] | ||
*Diffuse or patchy [[alopecia]] | *Diffuse or patchy [[alopecia]] | ||
*Nail dystrophy | *Nail dystrophy | ||
*Brittle nails | *[[Brittle nails]] | ||
===HEENT=== | ===HEENT=== | ||
*[[Macroglossia]] | |||
*[[Parotid gland]] enlargement | * Vitreous opacities is a charactristic finding in ATTR familial amyloidosis. | ||
*[[Submandibular gland]] enlargement | * [[Macroglossia]] | ||
*Peri-orbital [[purpura]] | * [[Parotid gland]] enlargement | ||
* [[Submandibular gland]] enlargement | |||
* Peri-orbital [[purpura]] | |||
* Raised [[intraocular pressure]] may be seen. | * Raised [[intraocular pressure]] may be seen. | ||
*Visual and hearing loss may be seen. | * Visual and hearing loss may be seen. | ||
<gallery> | <gallery> | ||
| Line 54: | Line 54: | ||
===Neck=== | ===Neck=== | ||
* Neck examination of patients with amyloidosis is usually normal. | * Neck examination of patients with familial amyloidosis is usually normal. | ||
===Lungs=== | ===Lungs=== | ||
| Line 68: | Line 68: | ||
===Back=== | ===Back=== | ||
* Back examination of patients with amyloidosis is usually normal. | * Back examination of patients with familial amyloidosis is usually normal. | ||
===Genitourinary=== | ===Genitourinary=== | ||
*[[Genitourinary]] examination of patients with amyloidosis is usually normal. | *[[Genitourinary]] examination of patients with familial amyloidosis is usually normal. | ||
===Neuromuscular=== | ===Neuromuscular=== | ||
| Line 84: | Line 84: | ||
* [[Raynaud phenomenon]] | * [[Raynaud phenomenon]] | ||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Latest revision as of 18:12, 25 November 2019
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Familial amyloidosis Microchapters |
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Familial amyloidosis physical examination On the Web |
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Risk calculators and risk factors for Familial amyloidosis physical examination |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Farima Kahe M.D. [2]Fahimeh Shojaei, M.D.
Overview
Physical examination of patients with familial amyloidosis is usually remarkable for hypertension, tachycardia, waxy thickening, easy bruising, purpura, macroglossia, parotid gland and submandibular gland enlargement, edema, numbness, hepatomegaly and paresthesia.
Physical Examination
Physical examination of patients with familial amyloidosis is usually remarkable for hypertension, tachycardia, waxy thickening, easy bruising, purpura, macroglossia, parotid gland and submandibular gland enlargement, edema, numbness, hepatomegaly and paresthesia.[1][2][3][4]
Appearance of the Patient
- Patients with familial amyloidosis usually appear normal.
Vital signs
Skin
- Waxy thickening
- Easy bruising (ecchymoses)
- Subcutaneous nodules or plaques
- Purpura
- Petechiae
- Edema
- Diffuse or patchy alopecia
- Nail dystrophy
- Brittle nails
HEENT
- Vitreous opacities is a charactristic finding in ATTR familial amyloidosis.
- Macroglossia
- Parotid gland enlargement
- Submandibular gland enlargement
- Peri-orbital purpura
- Raised intraocular pressure may be seen.
- Visual and hearing loss may be seen.
Neck
- Neck examination of patients with familial amyloidosis is usually normal.
Lungs
Heart
Abdomen
Back
- Back examination of patients with familial amyloidosis is usually normal.
Genitourinary
- Genitourinary examination of patients with familial amyloidosis is usually normal.
Neuromuscular
- Numbness
- Paresthesia
- Pain
Extremities
- Edema
- Carpal tunnel syndrome
- Numbness of the fingers and toes
- Raynaud phenomenon
References
- ↑ Wechalekar AD, Gillmore JD, Hawkins PN (June 2016). "Systemic amyloidosis". Lancet. 387 (10038): 2641–2654. doi:10.1016/S0140-6736(15)01274-X. PMID 26719234.
- ↑ Pribitkin E, Friedman O, O'Hara B, Cunnane MF, Levi D, Rosen M, Keane WM, Sataloff RT (December 2003). "Amyloidosis of the upper aerodigestive tract". Laryngoscope. 113 (12): 2095–101. doi:10.1097/00005537-200312000-00007. PMID 14660909.
- ↑ Shin SC, Robinson-Papp J (2012). "Amyloid neuropathies". Mt. Sinai J. Med. 79 (6): 733–48. doi:10.1002/msj.21352. PMC 3531896. PMID 23239211.
- ↑ Sandgren O (1995). "Ocular amyloidosis, with special reference to the hereditary forms with vitreous involvement". Surv Ophthalmol. 40 (3): 173–96. doi:10.1016/s0039-6257(95)80025-5. PMID 8599154.