A young woman has been suffering from shortness of breath on exertion and fatigue for 2 months. Various tests make doctors suspect an intolerance reaction – with extremely serious consequences.
A 33-year-old woman presents to the emergency department in Abu Dhabi. She is pale and reports 2 months of exertional dyspnea and fatigue. On admission, she is afebrile, her blood pressure is 124/74 mmHg, her pulse is 88 beats per minute, and her oxygen saturation is 100%. With auscultation, doctors already make the first discovery, because they hear a 3/6 systolic heart murmur with a maximum punctum at the apex and radiation to the axilla. However, further physical examination is unremarkable.
Severe and symptomatic
The first laboratory tests revealed microcytic anemia with a hemoglobin value of 32 g/l. In addition, the values of iron and ferritin and transferrin saturation of the woman are reduced. The patient was immediately admitted to the hospital for severe and primarily symptomatic iron deficiency anemia. She receives 4 units of red cell concentrate, which raises her Hb level to 96 g/L.
But how did this severe anemia come about? Further laboratory tests show elevated levels of gliadin and tissue transglutaminase, IgA and IgG antibodies, leading the doctor to suspect celiac disease. This suspected diagnosis could then be confirmed using a duodenal biopsy as part of an esophago-gastro-duodenoscopy.
An unusual expression
But one question remains open: How should a heart murmur be interpreted? ECG shows sinus rhythm with left bundle branch block, but serial troponin values are unremarkable. The doctors then perform an echocardiography, during which they find a severely dilated left ventricle and severely limited left ventricular systolic function with a left ventricular ejection fraction of 15-20%. Furthermore, there is severe global hypokinesis of the left ventricle and diastolic dysfunction II. degrees. Doppler examinations also show increased left ventricular filling pressure and mild to moderate mitral regurgitation. This will be confirmed by CT and MRI, so doctors diagnose dilated cardiomyopathy – probably an extraintestinal manifestation of celiac disease. The young woman was then started on therapy with valsartan, bisoprolol, ivabradine and spironolactone and was informed about the importance of a strict gluten-free diet.
Source of text and images: Elnour et al. / Clinical case studies