Familial amyloidosis physical examination: Difference between revisions
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== Overview == | == Overview == | ||
Common findings in amyloidosis include waxy thickening, [[easy bruising]], [[purpura]], macroglossia, [[parotid gland]] and [[submandibular gland]] enlargement, [[edema]], [[numbness]] and [[paresthesia]]. | Common findings in familial amyloidosis include waxy thickening, [[easy bruising]], [[purpura]], macroglossia, [[parotid gland]] and [[submandibular gland]] enlargement, [[edema]], [[numbness]] and [[paresthesia]]. | ||
==Physical Examination== | ==Physical Examination== | ||
[[Physical examination]] of patients | [[Physical examination]] of patients with familial amyloidosis is usually remarkable for waxy thickening, [[easy bruising]], [[purpura]], [[macroglossia]], [[parotid gland]] and [[submandibular gland]] enlargement, [[edema]], [[numbness]] 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><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]] | ||
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===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]] | ||
===Nodular Amyloidosis=== | ===Nodular Amyloidosis=== | ||
<gallery widths="130px"> | <gallery widths="130px"> | ||
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===Neck=== | ===Neck=== | ||
* Neck examination of patients with amyloidosis is usually normal. | * Neck examination of patients with familial amyloidosis is usually normal. | ||
===Lungs=== | ===Lungs=== | ||
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===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=== |
Revision as of 17:23, 30 October 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Farima Kahe M.D. [2]
Overview
Common findings in familial amyloidosis include waxy thickening, easy bruising, purpura, macroglossia, parotid gland and submandibular gland enlargement, edema, numbness and paresthesia.
Physical Examination
Physical examination of patients with familial amyloidosis is usually remarkable for waxy thickening, easy bruising, purpura, macroglossia, parotid gland and submandibular gland enlargement, edema, numbness and paresthesia.[1][2][3]
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
Nodular Amyloidosis
-
Nodular Amyloidosis
Adapted from Dermatology Atlas -
Nodular Amyloidosis
Adapted from Dermatology Atlas -
Nodular Amyloidosis
Adapted from Dermatology Atlas -
Nodular Amyloidosis
Adapted from Dermatology Atlas
HEENT
- 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
Macular Amyloidosis
-
Macular Amyloidosis
Adapted from Dermatology Atlas -
Macular Amyloidosis
Adapted from Dermatology Atlas -
Macular Amyloidosis
Adapted from Dermatology Atlas -
Macular Amyloidosis
Adapted from Dermatology Atlas -
Macular Amyloidosis
Adapted from Dermatology Atlas
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.