Pellagra Biochemistry Case Study
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A 50-year-old woman presented with painful, purplish skin lesions on her ankles, feet, hands and forearms. Her symptoms did not improve with antibiotics or steroids. Further examination found she had a poor diet, took laxatives and was underweight. Diagnosis of pellagra, a niacin or tryptophan deficiency, was made based on a Casal's necklace rash. Supplementation with niacin resulted in significant improvement. Pellagra is caused by not getting enough niacin from food or alcoholism interfering with its metabolism, and can lead to organ damage if untreated.
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0.3 % MCHC 31.7 g/dL
BASO 0.5 % RDW 13.2 %
PLT <10 K/μL
Questions:
1. What is abnormal about her CBC?
2. What procedures can be done regarding the abnormal result?
Answers:
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2. To determine the cause of thrombocytopenia:
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Pellagra Biochemistry Case Study
- 2. SYMPTOMS OF INCOMING PATIENT • 50-year-old woman, anxious • Purplish blotches of swollen skin on ankles and dorsa of the feet, very sensitive and painful to touch (Figure A) • Skin flaking on swollen skin around the hands and forearms, with surrounding discoloration (Figure B) • Sun exposure was very aggravating to the condition • Dedicated smoker and drinker (half a bottle of gin a day, equivalent to ~10 alcoholic drinks)
- 3. FURTHER EXAMINATION INTO PATIENT CONDITION • Sister was found to have undifferentiated connective tissue disease along with a positive antinuclear antibody level • Taking herbal diuretic tablet, used ibuprofen/paracetamol for headaches • Oral antibiotics and high-dose oral prednisolone was ineffective • No signs of chronic liver disease, arterial insufficiency, or sensory deficit
- 4. POTENTIAL DIAGNOSES INITIALLY GIVEN • Infection • Pseudoporphyria (photosensitivity to sunlight/UV radiation) • Phototoxic reaction caused by herbal diuretic or ibuprofen • Bullous oupus (autoantibody-mediated subepidermal blistering disease) • Porphyria cutanea tarda (blood pigment hemoglobin is metabolized)
- 7. INTERPRETATION OF LAB TESTS • Not any of the diagnoses that were initially proposed were maintained • Mild elevation of urinary & fecal porphyrins consistent with liver dysfunction rather than porphyia • Direct immunofluorescence for immunoglobulin and complement proteins were negative • Everything outside of normal parameters returned to normal following two weeks of managment
- 8. FURTHER INVESTIGATION • Oral cephalexin and tapering prednisolone ineffective • History of poor nutritional intake, docusate sodium tablets for laxative effect, intermittent diarrhea • Patient underweight (17 kg/m^2) • Scaly hyperpigmented collarette on chest resembled a Casal necklace (Figure C) • This prompted a clinical diagnosis of vitamin B3 deficiency • Administering oral nicotinamide 50 mg twice daily resulted in very significant improvement
- 9. PELLAGRA • Cellular deficiency of niacin (Vitamin B3), or its amino acid tryptophan • Niacin (nicotinic acid) is essential for carbohydrate, fat, protein/alcohol metabolism, detoxification of drugs, cell signaling and DNA repair • Signs of deficiency starts as gastrointestinal and neurological symptoms which if untreated can progress to death due to organ failure. Visible signs of swelling, bruising, or flaking can appear due to sun exposure, heat, friction, and pressure. • Locations of physically-affected areas include face, neck, chest, arms, and legs
- 10. LEVELS OF PELLAGRA • Primary Pellagra: dietary deficiency of tryptophan/niacin • Secondary Pellagra: issues that interfere with absorption/metabolism or tryptophan and niacin • Diseases: • Anorexia nervosa • Chronic alcoholism • Carcinoid syndrome • HIV • Medications • Azathioprine • 5-flurouracil • 6-mercaptopurine • Phenobarbitone Niacin
- 11. NIACIN AND TRYPTOPHAN • Niacin protects the heart by lowering levels of LDL cholesterol and preventing accumulation of plaque in the arteries • A deficiency of niacin leads to the digestive system and brain not functioning properly • Niacin directly inhibits the acetyl CoA and diacylglycerol acyltransferase 2 in the liver, thereby reducing the formation of TG and apo B, both LDL cholesterol molecules • Without niacin, more LDL cholesterol is secreted, which increases the stress on the heart
- 12. REAL-WORLD APPLICATION • Common in 1700s, but rare in the currently-developed world • Highest location for diagnosis of pellagra in Spain, where annual incidence was roughly 0.5 cases per 100,000 of the population • Never has been a published diagnosis of pellagra in Australia • Most common risk factors are alcoholism and poor diet, but diagnosis can be delayed due to the infrequency of the disease
- 13. NIACIN-RICH FOODS AND BENEFITS • Turkey • Chicken Breast • Peanuts • Mushrooms • Liver • Tuna • Green Peas • Grass-fed Beef • Sunflower Seeds • Avocado • Benefits • Healthier Skin • Higher HDL, lower LDL (lower likelihood of cardiovascular disease) • Relief from arthritic pain
- 14. REFERENCES • Axe, Josh. Top 10 Vitamin B3 Niacin Foods - DrAxe.com. Retrieved December 11, 2016, from https://draxe.com/top-10-vitamin-b3-niacin-foods/ • Ishii N, Nishihara Y. Pellagra among chronic alcoholics: clinical and pathological study of 20 necropsy cases. J Neurol Neurosurg Psychiatry 1981; 44: 209-215. • Koh, Y. (2008). The effects of niacin and a single bout of exercise on blood lipid and lipoprotein profiles in postmenopausal women. TX: ProQuest. • Piqué-Duran E, Pérez-Cejudo JA, Cameselle D, et al. [Pellagra: a clinical, histopathological, and epidemiological study of 7 cases] [Spanish]. Actas Dermosifiliogr 2012; 103: 51-58. • Thornton, A. M., & Drummond, C. J. (2014, August). An unexpected case of pellagra. Retrieved December 11, 2016, from https://www.mja.com.au/journal/2014/200/9/unexpected-case-pellagra • What Is Niacin and Why Is It Important? / Nutrition / Vitamins and Minerals. (n.d.). Retrieved December 11, 2016, from http://www.fitday.com/fitness-articles/nutrition/vitamins-minerals/what-is-niacin-and-why-is-it- important.html