A 32-year-old woman comes to the office to follow up abnormal liver function tests. She is experiencing mild fatigue but has no abdominal symptoms. The patient's other medical problems include gastroesophageal reflux disease, vitiligo, hypothyroidism, and iron deficiency anemia attributed to heavy menses. The patient takes iron supplements, levothyroxine, and a daily multivitamin. She has no family history of liver problems. She does not smoke and drinks alcohol socially.
BMI is 22.5 kg/m². Examination shows a 5-cm area of skin depigmentation on the right arm. The thyroid gland is not enlarged and there is no nodularity. The lungs are clear to auscultation. No hepatosplenomegaly is noted. Peripheral pulses are 2+ bilaterally throughout.
Laboratory results are as follows:
Viral hepatitis serologies are negative.
Which of the following is the most likely diagnosis?

Question

A 32-year-old woman comes to the office to follow up abnormal liver function tests. She is experiencing mild fatigue but has no abdominal symptoms. The patient's other medical problems include gastroesophageal reflux disease, vitiligo, hypothyroidism, and iron deficiency anemia attributed to heavy menses. The patient takes iron supplements, levothyroxine, and a daily multivitamin. She has no family history of liver problems. She does not smoke and drinks alcohol socially.
BMI is 22.5 kg/m². Examination shows a 5-cm area of skin depigmentation on the right arm. The thyroid gland is not enlarged and there is no nodularity. The lungs are clear to auscultation. No hepatosplenomegaly is noted. Peripheral pulses are 2+ bilaterally throughout.
Laboratory results are as follows:

Viral hepatitis serologies are negative.
Which of the following is the most likely diagnosis?

Quizplus · Accepted Answer

11ec193a_980a_1d6a_853d_e1e7ed65bf10_MD0002_00 This patient with mild aminotransferase elevations in the setting of autoimmune disease (vitiligo, hypothyroidism) and iron deficiency anemia likely has celiac disease. Celiac disease is a chronic malabsorptive disorder of the small intestine caused by immune-mediated hypersensitivity to gluten and is frequently associated with other autoimmune diseases (eg, type 1 diabetes mellitus, hypothyroidism). The initial evaluation should include serologic testing for IgA anti-tissue transglutaminase and IgA endomysial antibody; small bowel enteroscopy with biopsy can confirm the diagnosis. Celiac disease classically presents with gastrointestinal (eg, diarrhea, abdominal pain) and malabsorptive (eg, weight loss; deficiencies of iron, folate, or vitamin B₁₂) symptoms. However, extraintestinal symptoms may include osteoporosis, arthritis, neurologic symptoms, infertility, and elevated aminotransferases, which can occur with minimal or no intestinal symptoms. Therefore, celiac disease should be considered in any patient with an autoimmune history who develops unexplained iron deficiency anemia or any of the recognized extraintestinal manifestations. ₁₂ (Choice B) Hereditary hemochromatosis causes elevations in aminotransferases but is unlikely in a premenopausal woman due to the regular iron loss that occurs with menses. The presence of microcytic anemia despite iron supplementation virtually rules out this diagnosis. (Choice C) Lymphocytic colitis is due to lymphocyte accumulation in the colonic epithelium and connective tissue and usually presents with chronic, nonbloody diarrhea. However, it usually does not cause elevated transaminases. (Choice D) Chronic alcoholic liver injury is characterized by elevations in aspartate aminotransferase (AST) greater than alanine aminotransferase (ALT), typically with a ratio of >2:1 (this patient has ALT>AST). In addition, chronic alcohol intake usually causes a macrocytic rather than microcytic anemia. (Choice E) Primary biliary cholangitis usually presents with fatigue, pruritus, and elevated alkaline phosphatase (but relatively normal transaminase levels). This patient's normal alkaline phosphatase and absence of pruritus make this less likely. Educational objective: Celiac disease may present with extraintestinal manifestations in the absence of classic intestinal symptoms. It should be considered in any patient with an autoimmune history who develops unexplained iron deficiency anemia or any of the recognized extraintestinal manifestations. __________ References: Celiac disease: risk assessment, diagnosis, and monitoring. (http://www.ncbi.nlm.nih.gov/pubmed/18803427) Clinical practice: coeliac disease. (http://www.ncbi.nlm.nih.gov/pubmed/22422192)

A 32-Year-Old Woman Comes to the Office to Follow Up