Unusual presentation of a man with recurrent chylous ascites
- Alka N Joshi ,
- Talal Valliani and
- Robert Przemioslo
- Gastroenterology and Hepatology, North Bristol NHS Trust, Bristol, UK
- Correspondence to Dr Talal Valliani; talal.valliani@nbt.nhs.uk
Abstract
We describe an interesting case of a 77-year-old man presenting with refractory chylous ascites of unknown aetiology. After extensive diagnostic workup, unifying diagnosis of an intriguing condition of yellow nail syndrome was reached. This case is unusual as it describes a rare cause of chylous ascites in this age group. Despite refractory ascites and the need for recurrent paracentesis, this patient has a good prognosis with no significant impact on overall mortality.
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.
Scleronychia. Image showing thickened nail folds with yellowish discolouration of the nails suggestive of yellow nail syndrome.
Investigations
His routine full blood count, renal, liver biochemistry and coagulation screen were within normal limits (table 1). A chest X-ray suggested an elevated left hemidiaphragm with small bilateral pleural effusions. He underwent a series of gastrointestinal (GI) and liver investigations which included hepatitis screen, HIV status, autoimmune screen, transferrin saturation, ceruloplasmin and alpha-1 antitrypsin levels, all of which were within normal limits. His urine albumin:creatinine ratio was <0.5 with a normal brain natriuretic peptide of 112 ng/L.
Baseline investigations
| Investigation | Result | Unit | Normal range |
| Haemoglobin | 157 | g/L | 130–170 |
| White cell count | 5.22 | 109/L | 4.0–11.0 |
| Platelets | 204 | 109/L | 150–450 |
| C reactive protein | 4 | mg/L | <6.0 |
| Total bilirubin | 6 | μmol/L | <21 |
| ALT | 37 | U/L | 10–60 |
| ALP | 119 | U/L | 30–130 |
| Albumin | 35 | g/L | 35–50 |
| Total protein | 71 | g/L | 60–80 |
| Adj calcium | 2.47 | mmol/L | 2.20–2.60 |
| LDH | 416 | U/L | 240–480 |
| Glucose | 3.7 | mmol/L | 3–7.8 |
| Prothrombin time | 11.6 | s | 9.5–13.0 |
| INR | 1.1 | ratio | |
| APTT | 27.2 | s | 21–33 |
| Fibrinogen | 3.7 | g/L | 1.8–4.0 |
| Sodium | 140 | mmol/L | 133–146 |
| Potassium | 5.3 | mmol/L | 3.5–5.3 |
| Creatinine | 84 | μmol/L | 60–110 |
| eGFR | 77 | ml/min/1.73 m*2 | |
| HbA1C | 35 | mmol/mol | |
| Anti-nuclear antibody | Negative | ||
| Anti-smooth muscle abs | Negative | ||
| Anti-parietal abs | Negative | ||
| Anti-mitochondrial abs | Negative | ||
| Anti-LKM abs | Negative | ||
| Rheumatoid factor | <20 | iu/mL | |
| ANCA | Negative | ||
| Serum immunofixation | No paraprotein | ||
| IgG | 11.5 | g/L | 6–16 |
| IgA | 2.01 | g/L | 0.8–4 |
| IgM | 0.76 | g/L | 0.5–2 |
| Serum folate | 4.4 | μg/L | 4.4–20 |
| Serum ferritin | 759 | μg/L | 33–490 |
| Vitamin B12 | 354 | pg/mL | 180–900 |
| Transferrin saturation | 38% | ||
| A-1- Antitrypsin | 1.9 | g/L | 1.2–2.0 |
| Hepatitis B surface antigen | Negative | ||
| Hepatitis C antibody | Negative | ||
| HIV 1 and 2 antibodies and p24 antigen | Negative |
-
ALP, alkaline phosphatase; ALT, Alanine transaminase; ANCA, antineutrophil cytoplasmic antibodies; APTT, activated partial thromboplastin time; eGFR, estimated glomerular filtration rate; HbA1c, haemoglobin A1c; INR, International normalised ratio; LDH, lactate dehydrogenase.
Ultrasound of the abdomen confirmed gross ascites throughout the abdomen and pelvis.
Liver architecture appeared normal, with no evidence of splenic enlargement. No masses identified within the upper abdomen or pelvis.
The patient underwent paracentesis and analysis of ascitic fluid revealed a ‘milky’ fluid, with an albumin count of 40 g/L (serum albumin 30 g/L), white cell count 0.546×109/L, 70% polymorphs, 30% lymphocytes and cytology analysis revealed this to be predominantly lymphocytic CD3 positive T cells with no evidence of malignancy. The triglyceride concentration was 6.28 mmol/L with a normal amylase level. Microbiology screen to look for infection was undertaken and this was negative and Mycobacterium tuberculosis was ruled out.
To establish the underlying cause of chylous ascites, other investigations were undertaken. Transthoracic echocardiogram demonstrated normal size left ventricles with overall good left ventricular (LV) systolic function, without significant valve disease. Pulmonary artery pressure was not elevated and estimated to be about 32 mm Hg.
Upper GI endoscopy was normal and excluded GI malignancy and evidence of portal hypertension. CT scan of chest abdomen and pelvis, which was undertaken few months after the initial presentation, showed bilateral pleural effusions, but no evidence of malignancy (figure 2). MRI small bowel study was also normal. Faecal calprotectin levels and rigid sigmoidoscopy were undertaken and these were normal. CT colonoscopy showed mild uncomplicated diverticular disease with no signs of cancer or significant polyp.
Multimodality imaging of a patient with yellow nail syndrome. Axial and cross-sectional imaging with contrast CT showing a moderate size pleural effusion (panels A and B, red arrows) and a large amount of ascitic fluid (panels A and C, white arrows). The MRI scan did not show evidence of small bowel malignancy (panel D). Lymphoscintigram undertaken to assess evidence of lymphatic anomalies was negative (panel E).
A liver biopsy was undertaken which showed mild zone 3 sinusoidal dilatation and mild non-specific portal hepatitis with no evidence of fibrosis or obstructive portal venopathy. The pathologist concluded that these changes were very mild and insufficient to explain occurrence of significant ascites. A hepatic venogram to look for evidence of stenosis or web in the hepatic circulation was undertaken and this was negative. A nuclear medicine lymphoscintigram of lower limbs and groin was undertaken and this was normal without convincing evidence of lymphatic hypoplasia in the lower limbs. CT of sinuses demonstrated circumferential mucosal thickening of the right maxillary antrum in keeping with rhinosinusitis.
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.
Discussion
YNS is rare with an estimated prevalence of <1/1 000 000 and is characterised by triad of scleronychia (thickened yellow nails), peripheral primary lymphoedema and pulmonary manifestations and is often associated with chylous ascites.6 It was first described by Samman and White in 1964 who presented a series of 13 patient with yellow nails and lymphoedema and attributed it to lymphatic dysfunction.7 Later, it was recognised to be associated with pleural effusion and other pulmonary manifestations (bronchiectasis, rhinosinusitis) and sparsity of the lymphatics draining the pleural space was suggested to be responsible.8 9 Intestinal lymphangiectasia leading to the development of recurrent chylous ascites in relation to YNS was first reported in 1985.10
The underlying cause and pathophysiology of YNS is unclear; however, we know that it is an acquired syndrome of abnormalities in lymphatic flow and often affects adults over the age of 50.11 The clinical manifestations may appear separately and sequentially, making the diagnosis of YNS often challenging6 and is made when two of the three clinical symptoms described above are present. However, it is really challenging to reach the diagnosis of YNS without the characteristic nail changes. Lung involvement is usually seen in 56%–71% of patients and lymphoedema is present in 29%–80% of the reported series.12 Limb lymphoscintigraphy can be used to demonstrate lymphatic involvement, although this is only positive in severe lymphoedema.
Given the diversity of clinical manifestations, management of YNS is challenging. Dietary manipulation by replacing long chain triglycerides with medium chain triglycerides has been suggested in order to decrease the formation of chylous ascites. This reduces the load on the abnormal lymphatic system due to the difference in their absorption pathway; medium chain triglycerides are absorbed directly into the portal venous system, whereas long chain triglycerides are absorbed into the lacteals.13
Octreotide can be considered when dietary modification fails as it is less invasive compared with surgical intervensions. It has been thought to inhibit lymph fluid excretion by reducing intestinal lipid absorption and lowering the triglyceride concentration through somatostatin receptors found in the lymphatic vessels and has been shown to be beneficial in pleural effusions or chylous ascites and lymphoedema.14 15 Peritoneovenous shunts are reserved as last resort due to low median patency period, and requirement for frequent replacements burdens an increased risk for complications.16
In conclusion, YNS is a rare and poorly recognised condition as illustrated by the diagnostic approach we undertook and further research is required for understanding and managing the condition.
Learning points
-
Yellow nail syndrome (YNS) is a rare condition defined by the presence of two of the following: (1) hard, yellow and dystrophic nails; (2) lymphoedema; and (3) pulmonary manifestations.
-
YNS can be associated with chylous ascites, but it is paramount to exclude other common conditions of chylous ascites such as trauma, postsurgical and malignancy.
-
The clinical manifestations of YNS may appear separately and sequentially, making the diagnosis of YNS often challenging.
-
Management of YNS is often conservative, managing symptoms by pleural aspiration, paracentesis along with dietary modification to include a diet low in long chain fatty acids and high in medium chain triglycerides and high protein.
Footnotes
-
Contributors ANJ wrote the first and revised versions of the manuscript. RP conceived the idea and revised the manuscript. RP was the responsible consultant looking after the patient.
-
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
-
Competing interests None declared.
-
Patient consent for publication Obtained.
-
Provenance and peer review Not commissioned; externally peer reviewed.
- © BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.
References
Use of this content is subject to our disclaimer