Unusual presentation of a man with recurrent chylous ascites

Background

Chylous ascites itself is a rare form of ascites with a distinct characteristic milky appearance and a triglyceride level of >2.26 mmol/L. Variable incidence has been reported ranging from 1 in 20 000 to 1 in 187 000 admissions in tertiary hospitals.1 It is often due to the rupture of lymphatics secondary to trauma or iatrogenic postoperatively.2 In Western countries, more than 75% of cases of non-traumatic chylous ascites are secondary to malignancy and cirrhosis, whereas infectious causes like tuberculosis and filariasis are common in developing countries.3 Significant mortality of 40%–70% is often attributed to the underlying aetiology, predominantly malignancies and trauma.4 Chylous ascites as a consequence of primary lymphatic anomalies is extremely rare in adult population and is often due to acquired abnormalities in lymphatic circulation.5 We present an interesting case of yellow nail syndrome (YNS) with primary lymphatic anomaly causing refractory chylous ascites.

Case presentation

A 77-year-old man was referred to the hepatology clinic by his general practitioner, with a 4-month history of increasing breathlessness, abdominal pain and distension, and peripheral oedema. He reported a change in his bowel habit with loose watery stool, urgency and nocturnal symptoms. There was no report of blood or mucus in the stool. He also complained of a chronic cough that was more pronounced in the morning.

His medical history was unremarkable without previous hospitalisation or surgery. He was a non-smoker and there was no history of significant alcohol consumption. He did not have any metabolic risk factors. There was no significant family history, or history of travel or exposure to animals or pets. He was a retired surveyor and lived independently with his wife.

General physical examination showed him to be comfortable at rest with a resting heart rate of 74 beats/min and a blood pressure of 136/78 mm Hg. He was noted to have thickened nail folds with yellowish discolouration of the nails (figure 1). He was also found to have bilateral peripheral oedema to mid-shins. There were no peripheral stigmata of liver disease such as palmar erythema, Dupuytren’s contracture, pallor, jaundice, spider naevi or gynaecomastia. There was no evidence of generalised lymphadenopathy. His abdomen was distended with shifting dullness suggestive of ascites; however, there was no evidence of hepatosplenomegaly. The cardiovascular and respiratory examinations were unremarkable. In particular, there was no suggestion of pleural effusion.

Figure 1

Scleronychia. Image showing thickened nail folds with yellowish discolouration of the nails suggestive of yellow nail syndrome.

Differential diagnosis

This patient was a challenging case to reach a final diagnosis. There is an extensive list of differential diagnosis in patients presenting with ascites. However, there are only a few causes of chylous ascites most common being trauma, postsurgical or malignancy. The congenital and acquired primary lymphatic anomalies are among the rare causes of chylous ascites.5

A thorough clinical history had ruled out some of the most common causes of chylous ascites such as trauma and surgical postoperative cause.

When the patient presented to us, given his age, we had to consider malignancy as the forefront cause of his presentation. He was extensively investigated with upper GI endoscopy, CT colonoscopy, MRI small bowel and CT chest, abdomen and pelvis to access this, with all the investigations being negative. Furthermore, there were no other features such as weight loss or indeed suggestion of clinical deterioration during a long follow-up period prior to reaching diagnosis.

Due to diagnostic uncertainty, he was extensively investigated for all possible causes of ascites. With a negative non-invasive liver screen, absence of radiological or histological features of fibrosis/cirrhosis, we were confident to rule out liver-related causes for the presentation. Normal echocardiogram ruled out cardiac causes and the ascitic fluid analysis, along with absence of clinical or biochemical evidence of infection, infective causes like tuberculosis was also ruled out.

Rheumatological causes were considered as a possible differential but lack of associated features and a negative autoantibodies screen ruled this out.

The patient was followed up in the hepatology clinic and also reviewed in ear, nose and throat (ENT) and respiratory clinic, and subsequently, a diagnosis of yellow nail syndrome (YNS) was established with clinical features of thickened yellow nails, peripheral lymphoedema, rhinosinusitis, pulmonary manifestations such as pleural effusion, and recurrent chylous ascites.

Treatment

YNS is a multisystem disorder with diverse clinical manifestation and the mainstay of treatment is predominantly symptomatic management with dietary modification and drainage of the ascites and pleural effusion as required.

Outcome and follow-up

Four years since initial presentation, the patient remains relatively well but attends every 6–8 weekly for interventional radiology-guided paracentesis. Peritoneovenous shunt (LeeVeen) was suggested but he decided against it. He is advised certain dietary modification with a diet low in long chain fatty acids, high in medium chain triglycerides and high in protein. He has also recently developed chylous hydrothorax and had aspiration of the pleural fluid under the respiratory team.