Case Presentation
A 33 year old Ethiopian woman presented to the emergency department
after referral from her dentist for “looking pale.” She reported a
2-month history of exertional dyspnea and fatigue. She denied chest
pain, shortness of breath at rest, palpitations or orthopnea. There was
no history of abnormal bleeding or bruising, heavy menses, melena or
hematochezia. The patient denied cough, fever, abdominal pain, diarrhea
or urinary complaints. She denied any rashes or weight loss.
The patient was employed as a housemaid. She had no past medical or
surgical history and no previous hospitalizations. There was no family
history of chronic or autoimmune diseases. She denied taking any
prescription or over the counter medication. She denied alcohol or
illicit drug use and was a non-smoker. The patient also denied sick
contacts or recent travel.
On initial examination, she appeared pale but otherwise healthy. Her
body mass index was 20.5. She was afebrile with a temperature of 37 °C,
blood pressure 124/74 without orthostatic changes, heart rate of 88 bpm,
and oxygen saturation of 100% on room air. Neck examination revealed a
non-tender diffuse goiter, no lymphadenopathy, and jugular venous
pressure was not elevated. Cardiovascular examination revealed a grade
3/6 pan systolic murmur, maximum at the apex with radiation to the
axilla. Chest exam was clear on auscultation, with no peripheral edema.
Abdomen was soft, non-tender with no organomegaly. Joint examination was
unremarkable. There were no mucosal ulcers or skin rashes.
Initial labs revealed a microcytic anemia with hemoglobin of 32 g/dL
(117-155 g/dL), MCV 49.7 fL (81-100 fL), MCH 11.1 pg (27-34 pg), with
WBC count 5.5x10^9/L (4.5-11x10^9/L), and platelets 394x 10^9/L
(140-400 x 10^9/L). Liver and kidney function tests were normal. Iron
studies revealed iron level 1.4 mmol/L (5.8-34.5 mmol/L), transferrin
3.7 g/L (2-3.6 g/L), transferrin saturation 0.02 (0.07-0.42), and
ferritin 6 mcg/L (15-150 mcg/L). Vitamin B 12 level was 272pmol/L (128
– 648 pmol/L), and folate level was 22.4 nmol/L (10.9 – 84.5 nmol/L).
Hemolysis panel was unremarkable with an LDH of 162 IU/L (135-214 IU/L)
and haptoglobin of 0.64 g/L (0.3-2 g/L).
ECG showed sinus rhythm with left bundle branch block. Serial troponin
levels were normal. An echocardiography was performed, which showed a
severely dilated left ventricle and severely reduced left ventricular
systolic function, with left ventricular ejection fraction of 15-20%.
There was severe global hypokinesis of the left ventricle and grade II
left ventricle diastolic dysfunction. Doppler samples suggested elevated
left ventricular filling pressure. There was mild to moderate mitral
regurgitation. Pulmonary artery systolic pressure was normal at 30 - 35
mmHg. A small pericardial effusion was noted.
The patient was admitted to the general medical ward for severe
symptomatic iron deficiency anemia. She received 4 units of
cross-matched red blood cells. Her hemoglobin subsequently increased to
96 g/L. Further work up showed anti-gliadin IgA 379.6 cu (normal
<19.9 cu), anti gliadin IgG 708.4 cu (normal < 19.9
cu), anti tissue transglutaminase IgA 3671.9 cu (normal < 19.9
cu), anti-tissue transglutaminase IgG 2356.4 cu (normal < 19.9
cu). She underwent an upper endoscopy, which revealed normal mucosa. A
duodenal biopsy showed total villous atrophy, crypt hyperplasia and
intraepithelial lymphocytosis consistent with celiac disease. No
granulomas were seen. The dietician was consulted and the patient was
started on a gluten free diet.
CT cardiac coronaries was performed and revealed a dilated left
ventricle and left atrium, absent coronary calcification with no
evidence of coronary anomaly or atheromatous disease. Cardiac MRI showed
dilated cardiomyopathy with severely dilated left ventricle, severely
reduced left ventricular ejection fraction of 26%, increased indexed LV
mass and mid septal wall enhancement with small pericardial effusion.
The patient was started on a medication regimen that was financially
feasible, which included valsartan, bisoprolol, Ivarbadine and
spironolactone.
To work up the goiter, thyroid function tests were done and showed TSH
22.4 milli (0.27-4.2 milli) and T4 7pmol/L (12-22 pmol/L), with elevated
thyroid autoantibodies TPO Ab 44 IU/ml (normal <34 IU/ml),
Thyroglobulin Ab 1816 IU/ml (normal <115 IU/ml). Other
autoimmune work up was performed and showed low C3 0.77 g/L (0.9-1.8
g/L), normal C4, elevated rheumatoid factor of 64 IU/ml (normal
<14 IU/ml). Antinuclear antibody and double stranded DNA were
negative. Ultrasound of the thyroid revealed diffuse thyromegaly with
increased vascularity. The patient was started on levothyroxine
supplementation.
On discharge, the patient was doing well with no symptoms of heart
failure. Her hemoglobin remained stable after transfusion. The patient
was educated about celiac disease and the importance of a strict gluten
free diet and scheduled for outpatient follow up.