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Hepatosplenomegaly

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Hepatosplenomegaly is a medical condition in which both the liver and the spleen become enlarged. There are different medical conditions that can lead to the simultaneous appearance of hepatomegaly and splenomegaly, as you will have the opportunity to discover below. It is important to understand that this condition can lead to a serious or life-threatening symptoms, if proper medical treatment is not administered. The sooner the patient starts the treatment, the more reduced are the chances of developing such symptoms.


Hepatosplenomegaly Symptoms

These are the most common symptoms of hepatosplenomegaly:

  • The abdomen is distended and tender/painful to the touch
  • A palpable mass can be felt in the abdomen
  • Constant belching and hiccupping can occur as well
  • Because of the vascular fragility and the affectation of the spleen, one can get bruises or bleeds
  • High-running fever or chills can appear
  • The person cannot digest high quantities of food
  • The stools are modified, becoming loose and fatty
  • One can either gain weight or lose weight
  • Vomiting and nausea
  • The skin and the sclera of the eyes become yellow in color (more commonly known as jaundice)

Immediate medical intervention and treatment are required in case of the following symptoms:

  • State of confusion, reduced mental alertness
  • Loss of consciousness
  • High-running fever
  • Severe pain in the abdomen
  • Complete refusal of weight

Causes

These are the most common causes that lead to the appearance of hepatosplenomegaly:

  • Infections
    • Acute viral hepatitis – inflammation of the liver (acute) caused by different hepatic viruses (A, B, C, D and E)
    • Infectious mononucleosis – also known as the kissing disease, it represents an infectious condition caused by the Epstein-Barr virus
    • Cytomegalovirus – virus from the herpesvirus family, with high risk for pregnant women (risk of disability for the newborn)
    • Rubella virus – leads to the appearance of an infectious condition, known as German measles
    • Brucella infection – the condition is known as brucellosis, the virus being transmitted through contaminated food or direct contact with the infected animal
    • Malaria – mosquito-borne infectious disease, with increased risk for life-threatening symptoms
    • Leishmaniasis – disease caused by Leishmania, spread through the bite of a sand-fly
    • Fasciolosis – helminth disease, being more commonly encountered in Africa and Asia
    • Schistosomiasis – disease caused by a parasitic worm, infecting either the urinary tract or the intestines
    • Septicemic plague – a form of plague, caused by the infection with Yersinia pestis, capable of causing life-threatening symptoms
  • Hematological disease
    • Myeloproliferative disease – bone marrow disease in which the bone marrow produces cells in excess
    • Leukemia – cancer of the bone marrow, with high numbers of white blood cells (abnormal)
    • Lymphoma – blood cell tumor that originates from the cells of the lymphatic cells
    • Pernicious anemia – megaloblastic anemia, with autoimmune mechanism
    • Sickle cell anemia – hereditary disorder of the blood, with the hemoglobin cells not being able to transfer oxygen
    • Thalassemia – inherited disorder of the blood, in which the hemoglobin is formed in an abnormal manner
    • Myelofibrosis – rare bone marrow cancer, myeloproliferative neoplasm
  • Metabolic disease
    • Niemann-Pick disease – severe metabolic disorder, characterized primarily by the accumulation of fat in certain cells
    • Gaucher’s disease – genetic disease, in which fat accumulates in different organs and cells
    • Hurler’s syndrome – genetic disorder, with increased risk for early death (organ damage)
  • Chronic liver disease (associated with portal hypertension)
    • Chronic active hepatitis – chronic inflammation of the liver, caused by the infection with hepatic viruses
  • Amyloidosis – rare disease, in which the folded proteins accumulate in an abnormal manner
  • Acromegaly – medical condition in which the pituitary gland produces growth hormones in excess
  • Systemic lupus erythematosus – autoimmune disease in which the body’s immune system attacks the healthy tissue of the body
  • Sarcoidosis – medical condition in which the inflammatory cells (granulomas) appear in different organs (nodules)
  • Human African trypanosomiasis – parasitic disease, transmitted through the bite of infected flies
  • Rare disorders
    • Multiple sulfatase deficiency – autosomal recessive disease, characterized by the deficiency of certain enzymes
    • Osteopetrosis – rare inherited disorder, in which the bones become harder and denser than they normally should be.

Diagnosis

These are the most common methods used for the diagnosis of hepatosplenomegaly:

X-ray

  • Performed at the level of the abdomen
  • Allows for the identification of the swollen liver or spleen

Ultrasound

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  • Performed at the level of the abdomen as well
  • Recommended generally after a palpable mass has been identified in the abdomen through the physical examination

CT scan

  • Performed at the level of the abdomen
  • Useful for revealing the enlarged liver or spleen, as well as the affectation of the surrounding structures

Blood testing

  • Identification of hepatic enzyme levels – these indicate the good or bad functioning of the liver
  • Blood clotting tests

MRI scan

  • Most faithful investigation
  • Recommended for the confirmation of the diagnosis (suspected after the physical examination)

Pathophysiology

In patients diagnosed with hepatosplenomegaly, the enzyme deficiency is primarily responsible for the disturbance of the physiological metabolism. Enzyme deficiency causes the enlargement of the liver and the spleen, which ultimately leads to the above-mentioned symptoms. The accumulation of different substances in the reticuloendothelial system is also believed to lead to the appearance of hepatosplenomegaly, as well as are the disturbed intracellular transport and the processing of cholesterol.

Treatment

The treatment for hepatosplenomegaly depends primarily on the underlying cause that has led to such changes in the first place. Apart from the medical treatment, the doctor might advise bed rest, administration of hydrating fluids and supportive care for the most serious cases. As hepatosplenomegaly is commonly associated with chronic liver disease, the transplant of the liver remains the primary choice of treatment for these patients. It is important that one finds a liver that is compatible, before the symptoms experienced by the patient become life-threatening.

If the enlargement of the liver and spleen is caused by a tumor, the treatment will have to concentrate on eliminating the tumor first. Among the treatment options for such patients, there are: chemotherapy, radiotherapy and surgical removal (provided the tumor is in a location that can be accessed and removed from). In case of infectious conditions, the treatment will consist of symptomatic medication but also specific medication to remove the infectious microorganism.

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