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Hlh Disease Essay

1074 words - 5 pages

There exists a medical condition called Hemophagocytic lymphohistiocytosis or in shorter terms, HLH. Hemo means blood, phagocytic is to engulf and remove foreign material, lymph is the name of the fluid in lymphatic system, histiocytosis is the increase in the number of histiocytes.
There are various types of cells in the human body that fight off infection. A histiocyte is a cell found in the blood all over the body and is created by bone marrow. These cells fight infection and damage any foreign material. In a case of a person with HLH, they over produce these white blood cells. The extra cells made then increase in tissues and cause the liver, spleen, lymph nodes, or spinal cord organs to be damaged (What is HLH).
Symptoms include high fever, abnormal blood tests, enlarged spleen, skin rash, and enlarged lymph nodes. The Central Nervous System disease could occur in 50 percent of HLH patients. These symptoms often include seizures, irritability, fatigue, sudden blindness, coma/paralysis, weakening of face/eye nerves, weight loss, jaundice, and coordination difficulty. Also, bleeding is at high risk due to a lack of platelets or known as thrombocytopenia. If this is the case, the patient will be given a platelet transfusion to increase the clotting cells in the blood (References.) According to a population based study, HLH is estimated to happen in one in 50,000 births (Our mission). This disease is found the most in young children and infants (Office of Rare Diseases Research). It occurs under age one in 70 percent of all HLH cases (Our mission). This condition is rare and probable to lead to fatality.
In 1952, HLH was first identified as a familial immune dysregulatory disorder of childhood known as “familial hemophagocytic reticulousis.” Further on, HLH became both a familial disorder and an infrequent one that linked to infections (Blood). In simpler terms, it is usually inherited or may be sparked by specific diseases or conditions like immunodeficiency and infections. When it is inherited, two mutated copies of the gene must be present in order for it to develop (Office of Rare Diseases Research).
There are two forms of HLH, primary or secondary. Primary form meaning hereditary, secondary form, linked to viruses, infections, and autoimmune diseases Secondary form is mostly diagnosed in patients that are older or if there is no family history of the condition. It may be connected to vaccinations or viral infections such as Epstein-Barr, CMV, or herpes virus. It’s hard to tell weather the patient has the Primary or Secondary form because the symptoms are much alike. In order to get the correct diagnosis, genetic testing is highly recommended. Genetic testing is usually performed on blood and once the cause is known, the parents can be tested to solidify that they are carriers for that specific genetic type. One the genetic cause in the family is specified, then other siblings can be tested before they are even born (Our Mission)....

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