PELLAGRA CASE STUDY

ALEC STAIGERBIOC 460

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)

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

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)

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

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

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

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

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

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

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

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