Autoimmune polyendocrine syndrome physical examination

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Akshun Kalia M.B.B.S.[2]

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.

• 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.

The patient may be dehydrated and lethargic.^[1]

Vitals

• Low blood pressure
• Orthostatic hypotension
• Fever

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

• Weakness

Neurologic

• Confusion may be present
• Seizures may be present.

Physical examination of type 1 DM include:^[2][3][4][5]

• 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:

• Bradycardia

Skin:

Careful examination of skin around neck should be done for a possible surgical scar.

Common signs present are:

• Dry skin
• Coarse hair

HEENT:

Some patients may have:

• Subcapsular cataracts
• Papilledema^[10]

Lungs:

Some patients may have:

• Dyspnea
• Wheezing

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:

• Dysphagia

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]

• Parkinsonism
• Choreoathetosis
• Dystonia
• Oculogyric crisis
• Hemiballismus

Psychiatric:

Some patients may have psychiatric manifestations:^[14][15]

• Anxiety
• Depression
• Irritability
• Psychosis
• Anxiety

Extremities:

Some patients may have:

• Edema due to cardiac dysfunction

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