Addison's disease differential diagnosis
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Aditya Ganti M.B.B.S. [2]
Overview
Addison's disease must be differentiated from other diseases that cause hypotension, skin pigmentation, and abdominal pain such as myopathies, celiac disease, Peutz-Jeghers syndrome ,anorexia nervosa, syndrome of inappropriate anti-diuretic hormone (SIADH), neurofibromatosis, porphyria cutanea tarda, salt-depletion nephritis and bronchogenic carcinoma.
Differentiating Addison's disease from other Diseases
Addison's disease (primary adrenal insufficiency) must be first differentiated from secondary and tertiary adrenal insufficiency as all the three of them present with similar symptoms due to cortisol and mineralocorticoid hormone deficiencies.
- Serum ACTH level can help distinguish primary from secondary/tertiary adrenal insufficiency
Type of
Adrenal insufficiency |
Skin Pigmentation | ACTH | Normal ACTH |
---|---|---|---|
Addison disease | + | >60 ng/mL | 5-30 ng/mL |
Secondary /
tertiary adrenal insufficiency |
- | <5 ng/mL |
Addison's disease must be differentiated from other diseases that cause hypotension, skin pigmentation, and abdominal pain such as myopathies, celiac disease, Peutz-Jeghers syndrome ,anorexia nervosa, syndrome of inappropriate anti-diuretic hormone (SIADH), neurofibromatosis, porphyria cutanea tarda, salt-depletion nephritis and bronchogenic carcinoma.[1][2][3][4][5]
Disease | Differentiating symptoms | Differentiating laboratory findings | Gold standard test | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Hypotension | Abdominal pain | Anorexia/
weight loss |
Muscle weakness | Hypoglycemia | Skin pigmentation | Other symptoms | Hyponatremia | Cortisol levels | Other labs | ||
Addison's disease | + | + | + | + | + | + | - | Low | ACTH stimulation test | ||
Myopathies
hereditary myopathies) |
- | - | - | + | - | Heliotrope rash and
Gottron's sign |
- | Normal | - | Muscle biopsy | |
Celiac disease | - | + | + | - | - | Dermatitis herpetiformis |
|
- | Normal | - | Abnormal small bowel biopsy |
Syndrome of inappropriate anti-diuretic hormone | - | - | - | - | - | - | - | + | Normal |
|
Water deprivation test |
Neurofibromatosis | - | - | + | + | - | Axillary- and inguinal-area freckling |
|
- | - | - | Biopsy of skin tissue |
Peutz-Jeghers syndrome | + | + |
|
- | Normal | Colonic imaging showing the small intestinal polyps | |||||
Porphyria cutanea tarda | - | + | - | - | - | Blisters on sun-exposed sites |
|
- | Normal or elevated | High level of porphyrins in the urine | |
Salt-depletion nephritis | + | Flank pain | - | - | - | - | + | Elevated | <15:1 BUN:CR | ||
Bronchogenic carcinoma | - | - | + | - | - | + | - | Elevated | Increased ACTH and | Cytological or histological evidence of lung cancer in sputum, pleural fluid, or tissue | |
Anorexia nervosa | + | - | + | + | + | - |
|
- | Elevated | - | Psychiatric condition |
References
- ↑ Selva-O'Callaghan A, Labrador-Horrillo M, Gallardo E, Herruzo A, Grau-Junyent JM, Vilardell-Tarres M (2006). "Muscle inflammation, autoimmune Addison's disease and sarcoidosis in a patient with dysferlin deficiency". Neuromuscul. Disord. 16 (3): 208–9. doi:10.1016/j.nmd.2006.01.005. PMID 16483775.
- ↑ Kumar V, Rajadhyaksha M, Wortsman J (2001). "Celiac disease-associated autoimmune endocrinopathies". Clin. Diagn. Lab. Immunol. 8 (4): 678–85. doi:10.1128/CDLI.8.4.678-685.2001. PMC 96126. PMID 11427410.
- ↑ Adams R, Hinkebein MK, McQuillen M, Sutherland S, El Asyouty S, Lippmann S (1998). "Prompt differentiation of Addison's disease from anorexia nervosa during weight loss and vomiting". South. Med. J. 91 (2): 208–11. PMID 9496878.
- ↑ Lever EG, Stansfeld SA (1983). "Addison's disease, psychosis, and the syndrome of inappropriate secretion of antidiuretic hormone". Br J Psychiatry. 143: 406–10. PMID 6414566.
- ↑ BELL R, PATTEE CJ (1956). "Addison's disease associated with neurofibromatosis". Can Med Assoc J. 75 (5): 415–7. PMC 1823303. PMID 13356214.