Lotharius Kathryn C, Ferguson Gabrielle S, Camargo Sebastian, Luck George, Perumareddi Parvathi
College of Medicine, Florida Atlantic University Charles E. Schmidt College of Medicine, Boca Raton, USA.
Internal Medicine, Memorial Healthcare System, Pembroke Pines, USA.
Cureus. 2025 Aug 25;17(8):e90935. doi: 10.7759/cureus.90935. eCollection 2025 Aug.
Pellagra is a disease of niacin (vitamin B3) deficiency and is classically characterized by the triad of diarrhea, dermatitis, and dementia, and has the potential to cause death. Pellagra can be caused by either insufficient dietary intake or dysfunctional utilization of niacin. Because niacin can be found in nearly every food group (meat, dairy, vegetables, grains, etc.), deficiency is rarely seen in resource-rich countries where food scarcity is less prevalent. In this case, a 50-year-old woman presented to the emergency department with abdominal pain, watery diarrhea, altered mental status, altered taste, and a scaly rash on her upper extremities and perioral region. Her medical history was notable for alcohol use disorder, obesity previously treated with a gastric bypass, and chronic pancreatitis managed by a prior Whipple procedure. On examination, she was alert and oriented, with notable glossitis, cheilitis, excoriated rashes on the flexor surfaces of her hands, and 2+ pitting edema in both her upper and lower extremities. Laboratory findings were significant for megaloblastic anemia with a hemoglobin of 10.6 g/dL, hypoalbuminemia of 2.4 g/dL, transaminitis with alanine aminotransferase (ALT) of 60 units/L, and aspartate aminotransferase (AST) of 105 units/L, and deficiencies in niacin and vitamin D at less than 20 ng/mL and 12 ng/mL, respectively. Given her clinical presentation, laboratory findings, and significant surgical and medical history, the patient was diagnosed with pellagra. Treatment was initiated with electrolyte and vitamin supplementation as well as furosemide to address the anasarca. The patient initially showed improvement with vitamin supplementation, and the edema in her upper extremities began to decrease. However, the patient developed acute changes in mental status, and a stroke alert was enacted. Although MRI and CT imaging revealed no acute intracranial abnormalities, elevated lactic acid levels (5.2 mmol/L) raised suspicion for seizure activity. She became encephalopathic and obtunded and was subsequently transferred to the ICU for further evaluation and management. Despite appropriate interventions, she continued to decompensate in the setting of hospital-acquired bacteremia and septic shock. She ultimately passed away one month later. Although pellagra is a rare disease in the United States, it should be considered in patients presenting with the multi-system findings as seen in our patient. Bariatric and Whipple surgery patients are at particular risk for nutrient deficiencies, especially when compounded by alcohol use. It is crucial to educate patients who undergo bariatric or Whipple surgery on the importance of adhering to nutritional supplementation and limiting alcohol use, as these patients have the ideal conditions required for the development of pellagra. Niacin supplementation is the standard for treatment, and early intervention is key to preventing further complications and death.
糙皮病是一种烟酸(维生素B3)缺乏症,典型症状为腹泻、皮炎和痴呆三联征,并有致死风险。糙皮病可由膳食中烟酸摄入不足或烟酸利用功能障碍引起。由于几乎每种食物组(肉类、奶制品、蔬菜、谷物等)中都能找到烟酸,在食物短缺不那么普遍的资源丰富国家,糙皮病很少见。在本病例中,一名50岁女性因腹痛、水样腹泻、精神状态改变、味觉改变以及上肢和口周区域出现鳞屑性皮疹而就诊于急诊科。她有酒精使用障碍病史,曾因肥胖接受胃旁路手术治疗,之前因慢性胰腺炎接受过惠普尔手术。检查时,她意识清醒且定向力正常,有明显的舌炎、唇炎,手部屈侧有抓破的皮疹,上下肢均有2+凹陷性水肿。实验室检查结果显示,巨幼细胞贫血显著,血红蛋白为10.6 g/dL,低白蛋白血症为2.4 g/dL,转氨酶升高,丙氨酸转氨酶(ALT)为60单位/L,天冬氨酸转氨酶(AST)为105单位/L,烟酸和维生素D缺乏,分别低于20 ng/mL和12 ng/mL。鉴于她的临床表现、实验室检查结果以及显著的手术和病史,该患者被诊断为糙皮病。治疗开始时给予电解质和维生素补充剂以及呋塞米以治疗全身性水肿。患者最初通过补充维生素有所改善,上肢水肿开始减轻。然而,患者出现精神状态急性变化,于是启动了卒中警报。尽管MRI和CT成像未显示急性颅内异常,但乳酸水平水平升高(5.2 mmol/L)升高引发了对癫痫活动的怀疑。她出现脑病并变得迟钝,随后被转至重症监护病房进行进一步评估和管理。尽管采取了适当的干预措施,但在医院获得性菌血症和感染性休克的情况下,她的病情仍继续恶化。她最终在一个月后去世。尽管糙皮病在美国是一种罕见疾病,但对于出现如我们患者所见多系统表现的患者应予以考虑。减肥手术和惠普尔手术患者尤其有营养缺乏的风险,尤其是在合并酒精使用的情况下。对接受减肥手术或惠普尔手术的患者进行营养补充重要性和限制酒精使用的教育至关重要,因为这些患者具备发生糙皮病所需的理想条件。补充烟酸是治疗的标准方法,早期干预是预防进一步并发症和死亡的关键。