Autoimmune polyendocrine syndrome physical examination
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Akshun Kalia M.B.B.S.[2]
Overview
The physical examination findings in autoimmune polyendocrine syndrome (APS) may include hypotension, bradycardia, tetany, dry skin, coarse hair, and muscle weakness depending upon the sub-type and the organ affected such as adrenals, thyroid or pancreatic islet cells. Patients of APS usually appear fatigued and dehydrated.
Physical Examination
- The physical examination in autoimmune polyendocrine syndrome is variable and depends upon the sub-type and the organ involved.
- APS can involve multiple organs and the most common conditions associated with APS such as Addison's disease, type 1 diabetes mellitus and hypoparathyroidism are described below.
Addisons's disease
The patient may be dehydrated and lethargic.[1]
Vitals
Skin
- Hyperpigmented skin and mucous membranes - darkening (hyperpigmentation) of the skin, including areas not exposed to the sun; characteristic sites are skin creases (e.g. of the hands), nipples, and the inside of the cheek (buccal mucosa), old scars may also darken.
- Vitiligo may be present.
- Absence of axillary and pubic hair in females as a result of loss of adrenal androgens.
- Pallor may be present.
Neck
- Goiter may be present.
Extremities
Neurologic
Type 1 diabetes mellitus
Physical examination of type 1 DM include:[2][3][4][5]
| Examination findings | Classic new onset | Diabetic ketoacidosis |
|---|---|---|
| Appearance of patient | Patient is usually well appearing | Patients are ill appearing, may be confused or in state of coma |
| Vital signs | Pulse rate- Normal
Temperature- Normal Blood pressure- Normal Respiratory rate- Normal Oxygen saturation- Normal Blood glucose level- Elevated |
Pulse rate- Tachycardia with regular rhythm, weak volume
Temperature- Normal or elevated or hypothermia Blood pressure- Low blood pressure
Oxygen saturation- usually normal but some cases may have low oxygen saturation Blood glucose level- markedly elevated |
| Skin | Skin examination is usually normal, but in some cases may reveal dry skin | Poor skin turgor because of dehydration |
| HEENT | HEENT examination is usually normal, in some cases eye examination may reveal opacity of lens (cataract) | Dry mucous membrane, eyes may appear sunken because of dehydration |
| Neck | Neck examination is normal | Neck examination is normal |
| Lungs | Lung examination is normal | Lung examination is usually normal, but in some cases lung examination may reveal underlying triggering causes of diabetic ketoacidosis eg: pneumonia |
| Heart | Heart examination is normal (S1 + S2 + 0) | Heart examination is usually normal (S1 + S2 + 0) |
| Abdomen | Abdominal examination is normal | Abdominal tenderness may be elicited |
| Back | Back examination is normal | Back examination is usually normal |
| Genitourinary | Genitourinary examination is usually normal | Genitourinary examination is usually normal |
| Extremities | Examination of extremities is usually normal, some cases may elicit finding of decreased sensation in the extremities | Examination of extremities is usually normal |
| Neuromuscular | Neuromuscular examination is usually normal | Neuromuscular examination is usually normal |
Hypoparthyroidism
- Physical examination of patients with hypoparathyroidism is usually due to hypocalcemia.[6][7]
- The presence of tetany on physical examination is diagnostic of hypocalcemia which is commonly caused by hypoparathyroidism.[8]
- The presence of Chvostek's sign and Trousseau's sign on physical examination is highly suggestive of hypocalcemia which is commonly caused by hypoparathyroidism.[9]
Appearance of the Patient:
- Patients with hypoparathyroidism usually have neuromuscular irritability and may appear dysphoric.
Vital Signs:
Skin:
Careful examination of skin around neck should be done for a possible surgical scar.
Common signs present are:
HEENT:
Some patients may have:
- Subcapsular cataracts
- Papilledema[10]
Lungs:
Some patients may have:
Heart:
Some patients may have:
- Palpitation
- Signs of congestive heart failure such as fluid overload (S3 gallop)[11]
- Signs of cardiomyopathy[12]
Abdomen:
Some patients may have:
Neuromuscular:
Most common presentation is due to neuromuscular irritability. It present as:
- Tetany
- Chvostek's sign: Facial twitching, especially around the mouth. It is elicited by tapping the cheek (2 cm anterior to the earlobe below the zygomatic process) over the path of the facial nerve. Ipsilateral twitching of the upper lip is considered as positive sign.
- Trousseau's sign: Painful carpal spasm. It is elicited by inflating a blood pressure cuff around the arm to a pressure 20 mm Hg above obliteration of the radial pulse for 3-5 minutes.
- Tingling, burning, and/or numbness in the fingertips, toes and lips
- Muscle weakness
Some patients may have extrapyramidal signs (due to calcification of basal ganglia):[13]
Psychiatric:
Some patients may have psychiatric manifestations:[14][15]
Extremities:
Some patients may have:
References
- ↑ Sarkar SB, Sarkar S, Ghosh S, Bandyopadhyay S (2012). "Addison's disease". Contemp Clin Dent. 3 (4): 484–6. doi:10.4103/0976-237X.107450. PMC 3636818. PMID 23633816.
- ↑ http://www.aafp.org/afp/2005/0501/p1705.pdf
- ↑ Type 1 Diabetes mellitus "Dennis Kasper, Anthony Fauci, Stephen Hauser, Dan Longo, J. Larry Jameson, Joseph Loscalzo"Harrison's Principles of Internal Medicine, 19e Accessed on December 27th,2016
- ↑ http://spectrum.diabetesjournals.org/content/15/1/28
- ↑ "ADA".
- ↑ Abate EG, Clarke BL (2016). "Review of Hypoparathyroidism". Front Endocrinol (Lausanne). 7: 172. doi:10.3389/fendo.2016.00172. PMC 5237638. PMID 28138323.
- ↑ Cooper MS, Gittoes NJ (2008). "Diagnosis and management of hypocalcaemia". BMJ. 336 (7656): 1298–302. doi:10.1136/bmj.39582.589433.BE. PMC 2413335. PMID 18535072.
- ↑ Schafer, AL; Shoback, DM. De Groot, LJ; Chrousos, G; Dungan, K; et al., eds. Hypocalcemia: Diagnosis and Treatment. [Updated 2016 Jan 3]. Endotext [Internet].: South Dartmouth (MA): MDText.com, Inc.; 2000-.
- ↑ Shoback D (2008). "Clinical practice. Hypoparathyroidism". N. Engl. J. Med. 359 (4): 391–403. doi:10.1056/NEJMcp0803050. PMID 18650515.
- ↑ Sheldon RS, Becker WJ, Hanley DA, Culver RL (1987). "Hypoparathyroidism and pseudotumor cerebri: an infrequent clinical association". Can J Neurol Sci. 14 (4): 622–5. PMID 3690435.
- ↑ Levine SN, Rheams CN (1985). "Hypocalcemic heart failure". Am. J. Med. 78 (6 Pt 1): 1033–5. PMID 4014262.
- ↑ Kudoh C, Tanaka S, Marusaki S, Takahashi N, Miyazaki Y, Yoshioka N, Hayashi M, Shimamoto K, Kikuchi K, Iimura O (1992). "Hypocalcemic cardiomyopathy in a patient with idiopathic hypoparathyroidism". Intern. Med. 31 (4): 561–8. PMID 1633370.
- ↑ Basak RC (2009). "A case report of Basal Ganglia calcification - a rare finding of hypoparathyroidism". Oman Med J. 24 (3): 220–2. doi:10.5001/omj.2009.44. PMC 3251182. PMID 22224190.
- ↑ Arlt W, Fremerey C, Callies F, Reincke M, Schneider P, Timmermann W, Allolio B (2002). "Well-being, mood and calcium homeostasis in patients with hypoparathyroidism receiving standard treatment with calcium and vitamin D". Eur. J. Endocrinol. 146 (2): 215–22. PMID 11834431.
- ↑ Lin KF, Chen KH, Huang WL (2015). "Organic anxiety in a woman with breast cancer receiving denosumab". Gen Hosp Psychiatry. 37 (2): 192.e7–8. doi:10.1016/j.genhosppsych.2015.01.007. PMID 25772947.