Overview 

Fatigue, weakness, spleen enlargement and vomiting blood are all serious symptoms experienced by individuals affected with a chronic condition called Banti’s syndrome; a rare disease which describes a group of conditions that eventually lead to the same presentation. In this article, we are going to discover how Banti’s syndrome manifests and outline its clinical features.

Historical background

Banti’s syndrome was first described by the Italian professor Guido Banti in 1882. However, over time the term has been used less frequently as the underlying disorders have become better understood leading to the adoption of alternative names like non-cirrhotic portal fibrosis, idiopathic portal hypertension, hypersplenism and hepatoportal sclerosis.^1,6,7,8

Understanding Banti’s syndrome

It is a rare condition that affects both persons assigned male at birth (AMAB) and persons assigned female at birth (AFAB) equally and is more prevalent in some Asian countries like Japan and India compared to western countries. Doctors usually reach the diagnosis of Banti’s syndrome after excluding all the other potential causes that can explain the patient’s symptoms.² ​

There are numerous factors which contribute to the development of Banti syndrome. The main feature of Banti’s syndrome is a disturbance of the venous blood drainage of the liver and the spleen, which often happens due to a liver disease leading to elevated pressure within them. This causes the spleen to enlarge and results in portal hypertension (elevated pressure within the venous system which receives blood from the digestive organs to deliver it to the liver).²​ ​

The spleen is an organ responsible for filtering the blood by eliminating dead blood cells and microbes. It is considered a part of the immune system as it regulates immune cell function. When it becomes enlarged it leads to a condition known as splenomegaly.

Early symptoms

Banti's syndrome is a progressive condition in which the features develop gradually over time, starting as nonspecific symptoms that are similar to many other conditions. These include: 

• Fatigue: It is one of the most prominent and early features. The individual may feel tired all the time no matter how much sleep or rest they have. It can result from anaemia or from the disease process itself
• Weakness: Another commonly encountered feature is generalised body weakness which leads to limitation of daily activities. Anaemia may be the cause of this symptom
• Abdominal discomfort: People with Banti’s syndrome often feel dull pain in their tummy which starts as mild to moderate discomfort confined to the upper left side of the abdomen not associated with food intake or change in bowel movement; however, it can lead to early satiety and usually worsens with time. This discomfort results from the enlargement of the spleen and its effect on the surrounding organs³​​ 

Progressive symptoms

As the disease progresses over time, symptoms become more severe and specifically related to the spleen. They include: 

Splenomegaly

Splenomegaly refers to the abnormal overgrowth of the spleen that is a symptom of many different conditions. It manifests as: 

• Abdominal aches: Abdominal pain has now become more noticeable and severe; besides being felt in the upper left abdominal quadrant, it can also radiate to the left shoulder
• Palpable spleen: In normal situations, the spleen cannot be felt during an abdominal examination. While in cases of splenic enlargement doctors can easily detect it with their hands. With mild enlargement, the tip of the spleen can be just palpated below the ribs while in more advanced cases it can grow diagonally to reach the lower right side of the tummy leading to generalised abdominal swelling³​

Anaemia

Spleen enlargement leads to the well-known condition, hypersplenism which is a kind of splenic over-reaction that results in out-of-proportion destruction of all types of blood cells. Anaemia results from the reduced count of red blood cells (RBCs) and haemoglobin, therefore; the body doesn't have enough cells to deliver oxygen. It presents with the following symptoms: 

• Pallor: People with anaemia have pale skin from the decreased number of RBCs 
• Shortness of breath: Breathlessness, especially on exertion, is a common feature in anaemia as the body struggles to deliver oxygen to the tissues around the body
• Palpitation: A sensation of the body’s own heartbeat. In anaemia, the heart puts in extra effort to compensate for the increased oxygen needs of the body leading to faster heartbeats^1,4 ​
• Tiredness and weakness 

Thrombocytopenia

Thrombocytopenia refers to the decrease in number of platelets, the cells responsible for blood clotting and wound healing. It is another consequence of the hypersplenism and leads to symptoms like: 

• Bruising: People with Banti’s syndrome bruise easily, even from the slightest of trauma
• Prolonged bleeding: Bleeding after injury usually takes a longer time to stop 
• Petechiae: Tiny red or purple spots of blood seen on the skin or in the mouth that are associated with bleeding disorders

Leukopenia 

The reduced number of white blood cells (WBCs), the cells that guard us against microbial infection, is caused by the large spleen size. People with leukopenia are more likely to catch infections, however, the condition can pass unnoticed and only be detected on blood tests.​^1,4 ​

Advanced disease

Other features develop gradually with disease progression. Although they appear late, they may be the first symptoms to bring the patient to see the doctor.

Portal hypertension 

Portal hypertension leads to numerous complications including: 

• Variceal bleeding: Varices are abnormally dilated veins of the digestive tract mostly found in the oesophagus (esophageal varices) and the stomach (gastric varices). This dilation results from the increased pressure of the portal vein. Varices are one of the most serious complications of portal hypertension because they pose the risk of rupture leading to massive life-threatening bleeding. Therefore, they need prompt recognition and management to avoid this devastating event
• Ascites: Ascites is the condition in which there is an accumulation of fluid within the abdominal cavity. It causes significant abdominal discomfort and difficulty breathing
• Dilated abdominal veins: Also known as Caput Medusae, the veins of the abdomen become dilated and tortuous giving a distinct appearance
• Hepatic encephalopathy: Hepatic encephalopathy is the impairment of brain function as the result of chronic liver disease which leads to toxin accumulation in the blood⁵​ 

Jaundice

It describes the yellowish discolouration of the skin and eyeballs due to the accumulation of the product of red blood cell breakdown, bilirubin. Jaundice can result from liver disease and happens in rare cases of advanced Banti syndrome. 

How is Banti's syndrome investigated? 

History and clinical examination 

When there is suspicion of disease, the doctor will take a detailed medical history from the patient to enquire about the symptoms, their nature and duration to direct the diagnostic process. Then they will perform a thorough clinical examination to look for signs of spleen and liver disease like pallor, and petechiae. They will palpate for the spleen to check for its location and size.

Blood tests

• Complete blood count (CBC): CBC checks for blood cell count and haemoglobin level. The results will show anaemia, thrombocytopenia and leukopenia in most of the cases of Banti disease
• Liver function test (LFT): LFT shows abnormalities in case of liver involvement, like elevated enzymes, elevated bilirubin and prolonged bleeding profile

Imaging

• Abdominal ultrasound: Abdominal ultrasound is a simple, safe and cheap imaging modality, usually performed early to screen for the presence of spleen enlargement and liver disease
• Computed tomography (CT) and magnetic resonance imaging (MRI) scans: CT and MRI are more sophisticated techniques as they give more accurate and detailed images of the liver, spleen and the portal veins

Endoscopy 

Endoscopy involves the insertion of a flexible tube with an attached camera through the mouth to visualise the oesophagus and stomach to look for and evaluate the presence of varices. It also allows to ligate and inject medications to reduce the size of the varices or to control the bleeding in emergency cases.⁵ ​

Summary

Banti's syndrome is a rare disease characterised by splenic enlargement and abnormal portal venous drainage. It has an insidious onset starting with general nonspecific symptoms of anaemia, and abdominal discomfort, eventually progressing to more serious manifestations like variceal bleeding and hepatic encephalopathy. Early detection and management of the cause are essential to prevent complications such as hypersplenism and portal hypertension to improve the overall outcomes for patients with the syndrome.