Chediak Higashi syndrome

Chediak-Higashi syndrome is rare medical condition that targets mostly the body parts specifically the immune system. This condition describes as a major devastator of the immune system cells which results them to become weak and unable to combat foreign bodies such as viruses and bacteria. Therefore, most people who are afflicted with this syndrome are prone to repetitive infections which start from infancy to early adulthood.

What is Chediak Higashi syndrome?

The Chediak-Higashi Syndrome is known as a rare autosomal recessive disorder that comes from a mutation of a lysosomal trafficking protein which will result to a decrease in phagocytosis.

To clearly understand the definition of this syndrome, it is defined as disruption of immunity cells that leaves them to become weak and susceptible to foreign bodies (viruses and bacteria) resulting to recurrent of infections to a particular chediak patient.

The clinical manifestation of CHS is characterized by a condition called oculocutaneous albinism. This condition causes an abnormal pigmentation of the hair, skin and eye color. Mostly the affected individual appeared to have fairer skin and light colored hair. In many cases, it occurs in human, blue Persian cats, cattle, Australian blue rats, mice, mink, foxes and albino orca.

Chediak-higashi syndrome pictures 1

Chediak Higashi syndrome picture 2

People who are born to have Chediak Higasi Syndrome (CHS) have difficulty in terms of blood clotting or the coagulation process wherein the blood becomes gel like or thickened forming a blood clot. This phenomenon is turns the patient to become vulnerable of the appearance of bruises and an occurrence of abnormal bleeding.


Scientist claimed that the main cause of having Chediak Higasi Syndrome is due to the mutation in the CHS-gene that is also called as LYST. This specific gene is responsible for instructing to make proteins known as the lysosomal trafficking regulator which responsible for transporting materials to the lysosomes.

Generally, these lysosomes act as recycling centers within the cells. They are found inside of the cells that break down toxins, recycle disrupted cells components and combat bacteria. Even though the lysosomal trafficking regulator protein is responsible for the role of lysosomes, its exact function is still unknown.

Furthermore, the defect in the LYST gene can cause the lysosome to grow large which leads to an interference with the normal cell functions. Therefore, these enlarge lysosomes prevent the cells from seeking out and demolish the bacteria which leads also to become your body susceptible to a recurring infections.

In addition, related to lysosomes named melanosomes which are found in the pigment cells are responsible for producing and distributing melanin. These melanin is the pigment that give rise to skin color, hair and eye. Affected individual of CHS are generally have albinism due to the melanin that is stuck within the larger cell structures.


The CHS is considered to be a rare disorder which obviously has lower rate of affected individual in the society. In fact, there are less than 500 cases of CHS recorded on file and both males and females have equal in number.

Signs & Symptoms

The common observable traits that CHS have are;

  1. White to graying skin color
  2. Light colored eyes
  3. Light-colored to brown hair color with silvery sheen
  4. Nystagmus or the involuntary movement of the eye
  5. Recurrent infections in the lungs, skin, and mucous membranes.

Some other symptoms can be observed during childbirth or to the young children and these include;

  1. Poor eyesight
  2. Slowed mental progression
  3. Sensitivity to bright light or Photophobia
  4. Blood clotting problems which turned to an abnormal bruising and bleeding

In accelerated phase of CHS or the severe stage children with CHS can develop symptoms such as fever, infections and organ failure due to the uncontrollable division of white blood cells. As a matter of fact, several studies claimed that approximately 85% of children with CHS reach this stage.

Other signs and symptoms may persist and develop to;

  1. Abnormality of multiple cell lineages in the bone marrow
  2. Anemia
  3. Areflexia
  4. Hypopigmentation
  5. Ginggival bleeding
  6. Hepatomegaly
  7. Immunodefeciency
  8. Iris Hypopigmentation


In diagnosing this condition, first and foremost your doctor will look at your medical history as a source of indicators if you had recently a frequent infection. Followed by Physical Examination and other test will be performed to rule out the all the possibility. And some diagnostic testing includes:

  1. Bone Marrow Smear – this test used to show “giant inclusion bodies” in the cells that produced into white blood cells.
  2. Physical Examination– can suggests if there swollen liver, spleen or jaundice (the yellowing of skin and eyes)
  3. CBC or Complete Blood Count in order to identify if there is an abnormality in the homeostasis between RBC to WBC.
  4. Genetic Testing– used to identify the defective LYST gene
  5. Ophthalmologic examination– used to figure out reduced eye pigmentation.


Until today there is no known cure for CHS. However, some general treatment to manage symptoms consists of;

  1. Antibiotics to treat infections
  2. Corrective Eye lenses to improve vision
  3. Bone Marrow Transplant helps to treat defects in the immune system
  4. Antiviral Drugs to treat infection during terminal phase of the disease
  5. Chemotherapy Drugs helps to minimize the spread of the defective cells.


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