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June 2017, Volume 39, No. 2
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Case Report
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A young man with a diarrhoea and ankle swellingThomas MC Dao 陶敏之 HK Pract 2017;39:53-56 Summary As general practitioners, we frequently encounter young patients presenting with symptoms of gastroenteritis. In an unusual case, a young man having diarrhoea also reported to have ankle oedema which could not be explained by the diagnosis of gastroenteritis alone. Clinicians should be alert to such atypical presentation and to look for other potential serious conditions. The final diagnosis of this patient was idiopathic dilated cardiomyopathy. 摘要 普通科醫生經常遇到腸胃炎徵狀的年輕病人。在此病例，病人同時申訴雙腳水腫。雙腳水腫並非腸胃炎的慣常病徵。故此，醫生應加以警覺，需考慮其他可能較嚴 重疾病的鑒別診斷。此案例的最終診斷為原發性擴張型心肌病。
Mr Chan, a 37-year-old patient with past history of allergic rhinitis, came in with a 1-week history of abdominal distension. He was a non-smoker and nondrinker. He had no known drug allergy. He described his problem as central abdominal discomfort, colicky in nature with distension. He reported having some loose stool around twice a day in the recent one week. He also noticed that his lower limbs were slightly swollen at the same time. He had consulted a doctor a few days earlier and was diagnosed as suffering from “food intolerance”. He consulted another doctor this time because of the persistent symptoms after medication from the first doctor. He did not report any fever, coryzal symptoms, vomiting, blood or mucus in stool. There was no yellowish discoloration of skin, tea-coloured urine or clay-coloured stool. He did not have chest pain, shortness of breath or urinary symptoms. He also did not reveal any recent travel history nor have any sickness contacts. There was no change in his usual diet. He did not report any intake of seafood or unprocessed food. On physical examination, his blood pressure (BP) was 90/65 mmHg, his pulse (P) was 100/min and regular. His body mass index was 23kg/m2. He was afebrile. There was no pallor, jaundice or dyspnoea at rest. Pitting oedema was noted symmetrically over bilateral lower limbs up to mid-shin. Heart sounds were normal with no murmur. Respiratory examinations were unremarkable. Abdominal examination revealed a nondistended abdomen with a 3cm hepatomegaly below his costal margin. The liver was not tender on palpation and its surface was smooth. There was no splenomegaly. Based on the finding of hepatomegaly and ankle oedema, the initial diagnostic impression was underlying liver disease. Other differential diagnoses included gastroenteritis with septic signs or cardiac causes. Blood tests including complete blood count, liver and renal function tests were arranged that morning after consultation. He was also advised to have an urgent ultrasound scan of his abdomen. Initial blood tests showed normal levels of haemoglobin, white cell count, renal function and amylase. Borderline thrombocytopenia was noted (platelet count = 138 x 109 /L). Liver function test revealed indirect hyperbilirubinaemia (total bilirubin = 64 umol/L, direct bilirubin = 5 umol/L), mildly elevated ALT level at 62 U/L and normal AFP level. He returned with the urgent ultrasound report a few hours later. There were features suggestive of suspected cholecystitis and cholangitis with ascites. He was then referred to the Emergency Department. In the Emergency Department, his vital signs were stable with mild tachycardia (BP = 126/91 mmHg, P = 103/min, SaO2 100% in room air). Initial chest X-ray revealed cardiomegaly (cardiothoracic ratio = 19.1cm: 31.4cm, i.e. 0.61) with prominent pulmonary vessels and slight blunting of right costophrenic angle. Electrocardiogram (Figures 2 & 3) was done showing sinus tachycardia with a ventricular rate of 108 beats per minute. One premature ventricular complex was noted. Poor 'R' wave progression was also observed. Left atrial enlargement (as suggestive by morphology of p wave) and left ventricular hypertrophy was noted (based on Cornell’s voltage criteria). Medical admission was arranged for suspected congestive heart failure. 
Upon admission, echocardiogram was arranged which revealed dilated left and right ventricles. Ejection fraction was only 14%. There was no definite regional wall motion abnormality (RWMA). No major valvular lesion was found except for mild mitral regurgitation and trivial tricuspid regurgitation. There was no septal defect noted. Interim diagnosis of dilated cardiomyopathy (DCMP) was made. Further microbiological investigations were done to delineate a possible infective cause of DCMP. Computed tomography coronary angiogram did not reveal any underlying ischemic heart disease. He was then transferred to a tertiary cardiac unit for further management. Endomyocardial biopsy showed nonspecific changes (negative for amyloidosis). The final diagnosis of this case is idiopathic DCMP. As his ejection fraction was only around 10-15% on serial echocardiogram, he was then put on the list for heart transplant. As for his isolated indirect hyperbilirubinaemia, no causes of haemolysis were found. The presumptive diagnosis was Gilbert syndrome. Dilated Cardiomyopathy The term "dilated cardiomyopathy" usually refers to patients with non-ischaemic cause of cardiomyopathy in the literature.1 It consists of a group of heterogeneous myocardial disorders characterised by ventricular dilation and depressed myocardial contractility without abnormal loading conditions (e.g. hypertension, valvular disease).2 The estimated prevalence is around 36 cases per 100,000 population in United States of America3 and around 17 per 100,000 in Japan4. It is more common in males. Familial dilated cardiomyopathy accounts for around 20-48% of cases. Screening of family members and genetic testing are recommended in the American Heart Association guideline.2 Other causes of DCMP include alcohol or drug toxicity, autoimmune diseases, peripartum state, endocrinopathies, etc. The usual presentation of DCMP is heart failure. DCMP could be associated with some cardiac rhythm disturbances such as heart blocks or supraventricular tachycardia. Some patients will suffer from sudden cardiac death due to arrhythmias. The mainstay of treatment for DCMP is medical therapy. Treatment is directed at congestive heart failure. Usual treatment regime includes the use of angiotensin converting enzyme inhibitor and betablockers. Loop diuretics will be used in treatment of decompensated heart failure. Cardiac resynchronisation therapy can be used in advanced heart failure patients. Left ventricular assist devices such as intra-aortic balloon pump (IABP) could be used as a bridge to more definitive treatments. The risk of ventricular arrhythmia is increased in patients with DCMP. Implantable cardioverter defibrillator is indicated in such patients. Surgical procedures can also be done for reducing left ventricular size, such as the Batista procedure. The ultimate treatment for DCMP, however, is heart transplant. The average number of heart transplant in Hong Kong was only 10.4 cases per year (pooled average from 2007- 2015). There were 36 patients awaiting heart transplant as of 31/12/2015. The overall 5-year survival rate after heart transplant is 72.4%, and the mean survival was 14.8 years.5 The overall survival rate is 79% at 5 years and 63% at 10 years in patients with idiopathic dilated cardiomyopathy.6 More public education is needed to raise the organ donation rate. Thomas MC Dao, MBBS (HK), FRACGP, FHKCFP, MSc in Diagnostic Ultrasonography (CUHK)
Resident Department of Family Medicine & Primary Health Care, Kowloon West Cluster, Hospital Authority Correspondence to: Dr Thomas MC Dao, G/F, Ha Kwai Chung General Outpatient Clinic, 77 Lai Cho Road, Kwai Chung, N.T., Hong Kong SAR, China. Email: thomasmcdao@hotmail.com References
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