Several disorders can cause an enlarged liver and spleen, a condition known as hepatosplenomegaly. The underlying diseases that result in hepatosplenomegaly are inherited metabolic disorders characterised by either not producing enough of one of the enzymes needed to process lipids, or the enzymes one has do not work properly. Eight disorders are categorised as lipid storage diseases, though not all result in hepatosplenomegaly. This article will deal only with those that do.
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Lipids are fat-like substances that are part of the membranes found within and between cells and in the myelin sheath that coats and protects the nerves. Lipids include oils, fatty acids, waxes, steroids such as cholesterol and oestrogen, and other related compounds. Normally, your body's enzymes convert these lipids into smaller components that provide energy for the body. When these enzymes don't function properly, instead of being converted they are stored as fat. Excessive storage can cause permanent cellular and tissue damage, especially in the brain, peripheral nervous system, liver, spleen and bone marrow.
Four metabolic disorders result in both an enlarged liver and spleen: Gaucher disease, Niemann-Pick disease, Farber's disease and Sandhoff disease (Variant AB). Those diseases don't have cures. All that can be offered, generally, is supportive therapy.
Gaucher disease is a deficiency of the enzyme glucocerebrosidase, which causes fatty material to "collect in the spleen, liver, kidneys, lungs, brain, and bone marrow," according to the website of the National Institute of Neurological Disorders and Strokes (NINDS). Symptoms other than hepatosplenomegaly are "liver malfunction, skeletal disorders and bone lesions that may cause pain, severe neurologic complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anaemia, low blood platelets, and yellow spots in the eyes," according to the institute. Though it affects both sexes equally, it is most common in those of Ashkenazi Jewish descent. There are three subtypes. Type 1 and Type 3 respond to treatments that can improve quality of life, but there is no cure. Type 2 sufferers typically die before age 2.
According to NINDS, Niemann-Pick is a group of disorders "caused by an accumulation of fat and cholesterol in cells of the liver, spleen, bone marrow, lungs, and, in some patients, brain. ... A characteristic cherry-red halo develops around the centre of the retina in 50 per cent of patients." There are four subcategories, Types A-D. Type A, the most common, occurs in infants who rarely live longer than 18 months once they contract the disease. This type "occurs most often in Jewish families." Type B is a juvenile onset form. Along with hepatosplenomegaly, symptoms also include "ataxia, peripheral neuropathy, and pulmonary difficulties that progress with age, but the brain is generally not affected." These children can live into adulthood but frequently need oxygen because of lung problems. Types C and D can develop anytime and typically cause extensive brain involvement. There is no cure and treatment is only supportive.
According to NINDS, this disease causes "an accumulation of fatty material in the joints, tissues, and central nervous system." This disease typically begins in early infancy but can occur later in life. Infants who acquire the disease typically die before age 2. Symptoms can include "vomiting, arthritis, swollen lymph nodes, swollen joints, joint contractures (chronic shortening of muscles or tendons around joints), hoarseness, and xanthemas, which thicken around joints as the disease progresses." Children who develop hepatosplenomegaly, typically die within six months. Corticosteroids are used to control pain and bone marrow transplants or surgery is done to reduce granulomas (inflamed tissue).
Sadhoff is a severe form of Tay-Sachs disease. According to NINDS, the disease surfaces at the age of about six months. Symptoms other than hepatosplenomegaly are "progressive deterioration of the central nervous system, motor weakness, early blindness, marked startle response to sound, spasticity, myoclonus (shock-like contractions of a muscle), seizures, macrocephaly (an abnormally enlarged head) and cherry-red spots in the eye. Other symptoms may include frequent respiratory infections, murmurs of the heart, doll-like facial features." There is no treatment. Seizures can be controlled with anti-convulsive medications, but children typically die from respiratory infections by age 3.
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