Hereditary Spherocytosis is a genetic disorder characterized by red blood cells that are fragile and spherical in shape instead of the normal flat disk shape. The abnormal shape makes it difficult for red blood cells to pass through the spleen. The spleen's function is to purify the blood and safeguard the immune function by fighting against the potentially dangerous bacteria, viruses or other microorganisms in the blood. In case of Spherocytosis, the membrane of the red blood cells is defective lending it a spherical shape. When these defective blood cells pass through the spleen, they break and destroy causing premature death of the red blood cells. The shortage of blood cells gives rise to severe anemia. It is an inherited type of Hemolytic Anemia. A parent with the disease has a 50% chance of having a child with the disease. Spherocytosis is most common in people of northern European descent.
The symptoms can vary from mild to severe. In severe cases, the disorder may be found in early childhood. In mild cases it may go unnoticed until adulthood. Patients with Spherocytosis exhibit all the symptoms associated with anemia such as fatigue, irritability, shortness of breath and muscle weakness. They also appear pale and weak. In addition to these symptoms, Spherocytosis also causes enlarged spleen and jaundice with yellow skin and eyes. Jaundice occurs due to the elevated levels of serum bilirubin as the red blood cells are destroyed within the body. Excess bilirubin, sometimes, also results in in the gallbladder. These stones may cause pain, infection or may block the tubes that lead out of the gallbladder.
Family history is checked for hereditary factor and the abdomen has to be checked for enlarged spleen. Following blood tests may be performed to support the clinical examination:
- CBC or complete blood count test to check for anemia.
- The Reticulocyte Count Test is performed to measure the new and immature red blood cells produced in the bone marrow. The reticulocyte count is usually higher in cases of Spherocytosis.
- Osmotic Fragility Test is performed to measure the fragility of the red blood cells. This involves taking a blood sample and suspending in a salt solution and then measuring the destruction and fragility of the cells.
- Coombs Test to measure the antibodies in the blood.
- Blood test to check for bilirubin levels.
Splenectomy is the most definitive treatment for hereditary Spherocytosis. By removing the spleen, red blood cells are prevented from damage and are allowed to stay alive for a longer duration. However, removing a spleen makes the patient susceptible to infections for a lifetime. Hence patients need to take penicillin (or another antibiotic) for the rest of their lives. Immunization against pneumococcal and meningococcal infections is also prescribed. In case of severe anemia, blood transfusion is advised.
A syndrome that is characterized by acute metabolic condition that can occur during prolonged alcohol abuse. It was described initially in 1958 by Dr Leslie Zieve for patients with a combination of alcoholic liver disease Hemolytic Anemia and Hypertriglyceridemia. Zieve's syndrome exhibits liver and blood abnormalities caused by heavy alcohol consumption.
This is a condition associated with chronic alcoholism, frequently encountered in hospitalized alcoholics who have suddenly stopped alcohol. The underlying cause is liver delipidization and hemolytic anemia. This is distinct from alcoholic hepatitis which may be present simultaneously or develop later. The syndrome is defined by excessive blood lipoprotein, jaundice and abdominal pain.
Most common symptoms due to long-term history of chronic alcoholism include:
Vomiting after heavy drinking
Hepatomegaly, enlarged spleen, late cirrhosis
Skin and yellow sclera
Hemolytic Anemia, Hemoglobinuria (hemoglobin is excreted in urine) and Hemosiderin (insoluble form of storage iron complex) in urine.
Hepatic dysfunction, Jaundice, Hyperlipidemia and reversible hemolytic anemia after alcohol abuse are prominent symptoms.
Causes of Zieve's Syndrome
Zieve's syndrome is caused by alcoholism due to liver cell damage and various degrees of cholestasis thus causing cancer. Fatty liver production of free fatty acids into blood stream, increased triglycerides that causes hyperlipidemia and increased cholesterol and phospholipid deposition, and damaged red blood cells which become hard and brittle and blocked by splenic sinusoids. In addition, alcoholism induced pancreatitis and vitamin E deficiency is associated with hemolysis.
Diagnosis of Zieve's Syndrome
The diagnosis is based from objective information about alcoholism, and blood test for the abnormalities. It is based on history and the triple disease – jaundice, hemolytic anemia and hyperlipidaemia. For jaundice, moderate and direct bilirubin test is done. Hemolytic anemia is visible in hemoglobinuria and hemosiderin urine. There could be drop in hemoglobin, reticulocytes, bone marrow erythroblastic hyperplasia, and increased erythrocyte fragility and shortened life of red blood cells.
Hyperlipidemia is detected by increase in cholesterol, triglycerides and phospholipids. Diagnostic tests include hemoglobin, bone marrow examination, blood lipids including cholesterol, phospholipids, triglycerides, serum bilirubin, alkaline phosphatase, and liver function test and liver biopsy. Ultrasonography is done to reveal the syndrome. There could be rapid serum level rise after alcohol withdrawal in patients with denial of drinking.
Temperance for two to three weeks is essential for symptoms to disappear. A diet high in sugar-protein, vitamins and hepatoprotective drug is necessary. In addition to jaundice, treatment for high blood cholesterol and hemolytic anemia are essential. Basic therapy includes bed rest, adequate food intake, hydration and vitamin supplementation. The patient usually recovers from the symptoms very quickly, but the disease can recur if alcohol abuse persists.
Jaundice is a condition where the concentration of bilirubin in the blood and tissues increases far more than normal concentration. The person notices yellowish tinge to skin, eyes and mucus membrane. The urine becomes dark and the stools become clay-colored due to lack of bile pigments.
Pre-hepatic jaundice: Occurs due to malaria, thalassemia, Gilbert's syndrome or sickle cell anemia.
Intra-hepatic jaundice: Occurs due to liver conditions such as hepatitis, leptospirosis cirrhosis or fatty liver disease. Neonatal jaundice is usually of this kind.
Post-hepatic jaundice: Occurs due to bile obstruction into the digestive system; usually due to gallstones. Pancreatitis or biliary strictures can lead to obstructive jaundice.