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Addison's disease

Addison's disease (also known as chronic adrenal insufficiency, or hypocortisolism) is a rare endocrine disorder, first described by British physician Thomas Addison. more...

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It is estimated that it affects about 1 to 2 in 100,000 people.

It occurs when the adrenal glands, seated above the kidneys, fail to produce enough of the hormone cortisol and, sometimes, the hormone aldosterone.

Addison's disease refers specifically to primary adrenal insufficiency, in which the adrenal glands themselves malfunction; secondary adrenal insufficiency occurs when the pituitary gland does not produce enough adrenocorticotropic hormone (ACTH) to adequately stimulate the adrenal glands.

Signs and symptoms

Early signs

Addison's disease progresses slowly, and symptoms may not present or be noticed until some stressful illness or situation occurs. Common symptoms are:

  • chronic fatigue that gradually worsens
  • muscle weakness
  • loss of appetite
  • weight loss
  • nausea/vomiting
  • diarrhea
  • low blood pressure that falls further when standing (orthostatic hypotension)
  • areas of hyperpigmentation (darkened skin), known as melasma suprarenale.
  • irritability
  • depression
  • craving for salt and salty foods
  • hypoglycemia (worse in children)
  • for women, menstrual periods that become irregular or cease
  • tetany (particularly after drinking milk) due to phosphate excess
  • numbness of the extremities, sometimes with paralysis, due to potassium excess

Addisonian crisis

An illness or accident can aggravate the adrenal problems and cause an Addisonian crisis in which the symptoms include:

  • brown coating on tongue and teeth due to iron loss hemolysis
  • sudden penetrating pain in the legs, lower back or abdomen
  • severe vomiting and diarrhea, resulting in dehydration
  • low blood pressure
  • loss of consciousness
  • hypoglycemia

Untreated, an Addisonian crisis can be fatal. It is a medical emergency.

Diagnosis

In suspected cases of Addison's disease, one needs to demonstrate that adrenal hormone levels are low after appropriate stimulation with synthetic pituitary hormone.

Once demonstrated, the cause of adrenal failure needs to be elucidated. The most common cause is autoimmune, and can be tested for with an assay for 21-hydroxylase antibodies. If there are no antibodies present, infectious or genetic causes should be sought. This may include imaging of the adrenal glands, tests for tuberculosis or HIV infection, and searching for metastatic cancer.

Pathophysiology

Eighty to ninety percent of cases of Addison's disease are said to be due to autoantibodies directed against adrenal cells containing 21-hydroxylase, an enzyme involved in the production of cortisol and aldosterone.

Read more at Wikipedia.org


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NEW ONSET ADDISON'S DISEASE IN A 31 YEAR-OLD VETERINARIAN WITH LEPTOSPIROSIS EXPOSURE
From Medicine and Health Rhode Island, 12/1/04 by Freeman, Andrew M

A 31 year-old white woman veterinarian presented with a chief complaint of "I think I have leptospirosis" obtained via an occupational exposure. She had worked with a leptospirosis-infected animal about 11 months prior to admission, and thought that she had contracted the illness either then, or from a newly infected animal. She had a recent visit to the emergency department 12 days prior to admission for nausea and vomiting and what was thought to be a UTI with concomitant intravascular volume depletion and hypotension. Systolic blood pressure was 80mmHg. During that visit, she received IV ciprofloxacin and 4L of normal saline. The patient felt better and returned to work the next day, but started to have malaise, vomiting, and dizziness. She left work early, returned home, and called her physician, who advised to her to go the hospital. On further questioning, she reported a 6-12 month history of being thirsty, having intermittent episodes of hypoglycemia (for which her blood sugar was checked at her workplace), decreased libido (attributed to the stress of finishing her veterinary residency), preference for salty foods, having concentrated urine, and markedly increasing skin pigmentation (with only minimal sun exposure). She reported no sick contacts, recent travel, nor recent immunizations, and had no changes in her daily routine. On exam she was found to be in mild distress, nauseated, and had a non-bilious, non-bloody episode of emesis. Her blood pressure was SOrnmHg systolic, and she responded only transiently to fluid resuscitation. Her skin showed bronze pigmentation with extensive freckling and her buccal mucosa and gingiva had patches of dark pigment. The patient underwent a high-dose ACTH-stimulation test and was found to have a minimal cortisol response (no level exceeding 2.5ug/dL). A work up for leptospirosis was negative and a diagnosis of primary adrenal insufficiency was made. After receiving hydrocortisone and fludricortisone, her blood pressures stabilized and her symptoms resolved. She was discharged with endocrinology follow-up care.

Addison's disease affects approximately 8,800 people per million in the US. Unrecognized adrenal insufficiency can lead to shock and even death in times of physiologic stress. We present a case of previously undiagnosed primary adrenal insufficiency in a patient with concern for a diagnosis of leptispirosis, a febrile infections disease usually of the tropics. Leptospirosis can cause both renal and hepatic dysfunction as well as hypovolemia, nausea, vomiting, muscle aches and others, some of which may mimic adrenal insufficiency.

ANDREW M. FREEMAN, MD, AND JAMES SULLIVAN, MD

RHODE ISLAND AND THE MIRIAM HOSPITAL/BROWN UNIVERSITY SCHOOL OF MEDICINE

Copyright Rhode Island Medical Society Dec 2004
Provided by ProQuest Information and Learning Company. All rights Reserved

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