eMedicine Specialties > Endocrinology > Metabolic Disorders

Beriberi (Thiamine Deficiency): Differential Diagnoses & Workup

Author: Dieu-Thu Nguyen-Khoa, MD, Assistant Professor, University of California Los Angeles Residency Program; Physician Specialist, Valley Care-Olive View Medical Center
Coauthor(s): Dennis W Cope, MD, FACP, Emeritus Professor of Clinical Medicine, University of California Los Angeles School of Medicine; Chief, Department of Internal Medicine, Olive View-University of California Los Angeles Medical Center; Ginette V Busschots, MD, Staff Physician, Assistant Professor, University of Michigan, Department of Emergency Medicine, Foote Hospital; Phyllis A Vallee, MD, Associate Program Director, Department of Emergency Medicine, Henry Ford Hospital
Contributor Information and Disclosures

Updated: Sep 9, 2009

Differential Diagnoses

Alcoholic Fatty Liver
Diabetic Ketoacidosis
Alcoholic Hepatitis
Encephalopathy, Hepatic
Alcoholic Ketoacidosis
Encephalopathy, Hypertensive
Alcoholism
Encephalopathy, Uremic
Anemia
Enterobacter Infections
Anorexia Nervosa
Enteroviruses
California Encephalitis
Folic Acid Deficiency
Campylobacter Infections
Goiter
Cardiogenic Shock
Goiter, Diffuse Toxic
Cardiomyopathy, Alcoholic
Hyperthyroidism
Cardiomyopathy, Cocaine
Ileus
Cardiomyopathy, Diabetic Heart Disease
Irritable Bowel Syndrome
Cardiomyopathy, Dilated
Metabolic Acidosis
Cardiomyopathy, Hypertrophic
Myocarditis
Cardiomyopathy, Peripartum
Nerve Entrapment Syndromes
Cardiomyopathy, Restrictive
Polymyositis
Cholera
Schizophreniform Disorder
Cirrhosis
Scurvy
Delirium
Sudden Cardiac Death
Delirium Tremens
Thyroiditis, Subacute
Delusional Disorder
Trigeminal Neuralgia
Dementia Due to HIV Disease
Vascular Dementia
Depression
Viral Arthritis
Dermatomyositis
Wernicke-Korsakoff Syndrome

Other Problems to Be Considered

  • Alcoholic cirrhosis
  • Hepatic failure
  • Hyperthyroidism and/or thyrotoxicosis
    • When examining a patient with high-output cardiac failure, thyrotoxicosis is an important differential diagnosis to consider and treat, although no definite clinical correlation has been found between thiamine and thyroid disease. Only animal studies suggest any benefit in administering thiamine to treat patients with thyrotoxicosis.
    • If thyrotoxicosis is suspected, the treatment must be directed at protecting the heart from the thyroid storm, as opposed to supporting the cardiac output while increasing the thiamine level. However, because no damage is expected from administering supplemental thiamine to patients with thyrotoxicosis, the use of thiamine in the treatment of these patients is innocuous and may be helpful.
    • In laboratory studies, thiamine appears to inhibit the formation of monoiodotyrosine (MIT) and diiodotyrosine (DIT). No clinical correlation has been reported.

Workup

Laboratory Studies

  • For practical reasons, replacing thiamine as an initial test may be most feasible. If the patient responds to treatment, it is safe to assume that a measure of thiamine deficiency was responsible for the condition. Thiamine is not toxic in high levels, which means that this route carries little risk. In addition, time is saved in treating the patient and money is saved in testing.
  • If laboratory confirmation is needed, measure blood thiamine, pyruvate, alpha-ketoglutarate, lactate, and glyoxylate levels. Also, measure urinary excretion of thiamine and its metabolites. The scarcity of any of these chemicals strongly suggests thiamine deficiency.23
  • In conjunction with whole blood or erythrocyte transketolase activity preloading and postloading, a thiamine loading test is the best indicator of thiamine deficiency. An increase of more than 15% in enzyme activity is a definitive marker of deficiency. However, this test is expensive and time consuming; it is performed only for criterion-standard proof of deficiency.
  • Measure urinary methylglyoxal.
  • Measure serum thyroid-stimulating hormone (TSH) to rule out thyrotoxicosis-induced high-output heart failure, if applicable.
  • An increase in troponin I has been found in heart failure due to thiamine deficiency.24   Thiamine is an important enzymatic cofactor in several energy pathways. Its deficiency disrupts cellular processes and leads to myocardial death. Thiamine is also an important factor in the cellular production of glutathione, an antioxidant that myocardial cells need to counteract free radicals. In the absence of glutathione, these cells would die prematurely.

More on Beriberi (Thiamine Deficiency)

Overview: Beriberi (Thiamine Deficiency)
Differential Diagnoses & Workup: Beriberi (Thiamine Deficiency)
Treatment & Medication: Beriberi (Thiamine Deficiency)
Follow-up: Beriberi (Thiamine Deficiency)
References
Further Reading
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References

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  2. Cole PD, Kamen BA. "Beriberi" interesting!. J Pediatr Hematol Oncol. Dec 2003;25(12):924-6. [Medline].

  3. Isselbacher KJ, Braunwald E, Wilson JD. Harrison's Principles of Internal Medicine. 13th ed. New York, NY: McGraw-Hill; 1994:474-475.

  4. McCormick DB. Shils ME, Young VR, eds. Modern Nutrition in Health and Disease. Philadelphia, Pa: Lea and Febiger; 1988:355-61.

  5. Rosen P, Barkin R. Emergency Medicine: Concepts and Clinical Practice. 4th ed. St. Louis, Mo: Mosby Year Book; 1998:2138-40.

  6. Thiamine. Monograph. Altern Med Rev. Feb 2003;8(1):59-62. [Medline].

  7. Karuppagounder SS, Xu H, Pechman D, et al. Translocation of amyloid precursor protein C-terminal fragment(s) to the nucleus precedes neuronal death due to thiamine deficiency-induced mild impairment of oxidative metabolism. Neurochem Res. Mar 4 2008;[Medline].

  8. Indraccolo U, Gentile G, Pomili G, et al. Thiamine deficiency and beriberi features in a patient with hyperemesis gravidarum. Nutrition. Sep 2005;21(9):967-8. [Medline].

  9. Zuccoli G, Gallucci M, Capellades J, et al. Wernicke encephalopathy: MR findings at clinical presentation in twenty-six alcoholic and nonalcoholic patients. AJNR Am J Neuroradiol. Aug 2007;28(7):1328-31. [Medline].

  10. Hazell AS. Astrocytes are a major target in thiamine deficiency and Wernicke's encephalopathy. Neurochem Int. Jul-Aug 2009;55(1-3):129-35. [Medline].

  11. Zuccoli G, Pipitone N. Neuroimaging findings in acute Wernicke's encephalopathy: review of the literature. AJR Am J Roentgenol. Feb 2009;192(2):501-8. [Medline].

  12. Weise Prinzo Z, de Benoist B. Meeting the challenges of micronutrient deficiencies in emergency-affected populations. Proc Nutr Soc. May 2002;61(2):251-7. [Medline].

  13. Masumoto K, Esumi G, Teshiba R, et al. Need for thiamine in peripheral parenteral nutrition after abdominal surgery in children. JPEN J Parenter Enteral Nutr. Jul-Aug 2009;33(4):417-22. [Medline].

  14. Rao SN, Mani S, Madap K, et al. High prevalence of infantile encephalitic beriberi with overlapping features of Leigh's disease. J Trop Pediatr. May 8 2008;[Medline].

  15. Fattal-Valevski A, Azouri-Fattal I, Greenstein YJ, et al. Delayed language development due to infantile thiamine deficiency. Dev Med Child Neurol. Aug 2009;51(8):629-34. [Medline].

  16. Shenoy VV, Patil PV, Nagar VS, et al. Congestive cardiac failure and anemia in a 15-year-old boy. J Postgrad Med. Jul-Sep 2005;51(3):225-7. [Medline].

  17. Angstadt JD, Bodziner RA. Peripheral polyneuropathy from thiamine deficiency following laparoscopic Roux-en-Y gastric bypass. Obes Surg. Jun-Jul 2005;15(6):890-2. [Medline].

  18. Koike H, Iijima M, Mori K, et al. Postgastrectomy polyneuropathy with thiamine deficiency is identical to beriberi neuropathy. Nutrition. Nov-Dec 2004;20(11-12):961-6. [Medline].

  19. Aasheim ET, Bjorkman S, Sovik TT, et al. Vitamin status after bariatric surgery: a randomized study of gastric bypass and duodenal switch. Am J Clin Nutr. Jul 2009;90(1):15-22. [Medline].

  20. Braverman LE, Utiger RD. Werner and Ingbar's The Thyroid: A Fundamental and Clinical Text. 7th ed. Baltimore, Md: Lippincott Williams & Wilkins; 1996:694, 864.

  21. Sica DA. Loop diuretic therapy, thiamine balance, and heart failure. Congest Heart Fail. Jul-Aug 2007;13(4):244-7. [Medline].

  22. Hanninen SA, Darling PB, Sole MJ, et al. The prevalence of thiamin deficiency in hospitalized patients with congestive heart failure. J Am Coll Cardiol. Jan 17 2006;47(2):354-61. [Medline].

  23. Lu J, Frank EL. Rapid HPLC measurement of thiamine and its phosphate esters in whole blood. Clin Chem. May 2008;54(5):901-6. [Medline].

  24. Tran HA. Increased troponin I in "wet" beriberi. J Clin Pathol. May 2006;59(5):555. [Medline].

  25. National Academy of Sciences. Dietary Guidance: Dietary Reference Intake Reports. USDA National Agricultural Library. Available at http://fnic.nal.usda.gov/nal_display/index.php?info_center=4&tax_level=3&tax_subject=256&topic_id=1342&level3_id=5141.

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Further Reading

Related eMedicine topic:
 Alcohol-Related Psychosis
Beriberi [Pediatrics: General Medicine]
Cardiomyopathy, Alcoholic
Wernicke Encephalopathy
Wernicke-Korsakoff Syndrome

Clinical guidelines:
American Association of Clinical Endocrinologists, The Obesity Society, and American Society for Metabolic & Bariatric Surgery medical guidelines for clinical practice for the perioperative nutritional, metabolic, and nonsurgical support of the bariatric surgery patient. American Association of Clinical Endocrinologists - Medical Specialty Society
American Society for Metabolic and Bariatric Surgery - Professional Association
The Obesity Society - Disease Specific Society.  2008 Jul-Aug.  83 pages.  NGC:006716

Expert panel on weight loss surgery. Massachusetts Department of Public Health - State/Local Government Agency [U.S.].  2004 Aug 4 (revised 2007 Dec 12).  106 pages.  NGC:006638

Clinical trials:
The Prevalence of Thiamin Deficiency in Ambulatory Patients With Heart Failure

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Keywords

beriberi, thiamine, thiamin, vitamin B, vitamin B1, vitamin B-1, thiamine deficiency, Wernicke's encephalopathy, Wernicke encephalopathy, Korsakoff syndrome, Korsakoff’s syndrome, vitamin B1 deficiency, vitamin B-1 deficiency, thiamin deficiency, wet beriberi, dry beriberi, Shoshin beriberi, acute fulminant cardiovascular beriberi, thiamine pyrophosphate, thiamin pyrophosphate

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Contributor Information and Disclosures

Author

Dieu-Thu Nguyen-Khoa, MD, Assistant Professor, University of California Los Angeles Residency Program; Physician Specialist, Valley Care-Olive View Medical Center
Dieu-Thu Nguyen-Khoa, MD is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians, and American Medical Association
Disclosure: Nothing to disclose.

Coauthor(s)

Dennis W Cope, MD, FACP, Emeritus Professor of Clinical Medicine, University of California Los Angeles School of Medicine; Chief, Department of Internal Medicine, Olive View-University of California Los Angeles Medical Center
Dennis W Cope, MD, FACP is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians, and Society of General Internal Medicine
Disclosure: Nothing to disclose.

Ginette V Busschots, MD, Staff Physician, Assistant Professor, University of Michigan, Department of Emergency Medicine, Foote Hospital
Disclosure: Nothing to disclose.

Phyllis A Vallee, MD, Associate Program Director, Department of Emergency Medicine, Henry Ford Hospital
Phyllis A Vallee, MD is a member of the following medical societies: American Academy of Emergency Medicine, American Medical Association, and Michigan State Medical Society
Disclosure: Nothing to disclose.

Medical Editor

Stanley Wallach, MD, Executive Director, American College of Nutrition; Clinical Professor, Department of Medicine, New York University School of Medicine
Stanley Wallach, MD is a member of the following medical societies: American Society for Bone and Mineral Research, American Society for Clinical Investigation, American Society for Clinical Nutrition, American Society for Nutritional Sciences, Association of American Physicians, and Endocrine Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

Don S Schalch, MD, Professor Emeritus, Department of Internal Medicine, Division of Endocrinology, University of Wisconsin Hospitals and Clinics
Don S Schalch, MD is a member of the following medical societies: American Diabetes Association, American Federation for Medical Research, Central Society for Clinical Research, and Endocrine Society
Disclosure: Nothing to disclose.

CME Editor

Mark Cooper, MBBS, PhD, FRACP, Head, Diabetes & Metabolism Division, Baker Heart Research Institute, Professor of Medicine, Monash University
Disclosure: Nothing to disclose.

Chief Editor

George T Griffing, MD, Professor of Medicine, St Louis University School of Medicine
George T Griffing, MD is a member of the following medical societies: American Association for the Advancement of Science, American College of Medical Practice Executives, American College of Physician Executives, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical Research, Endocrine Society, International Society for Clinical Densitometry, and Southern Society for Clinical Investigation
Disclosure: Nothing to disclose.

 
 
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