Chediak Higashi Syndrome Symptoms, Causes and Treatment Information

What is Chediak Higashi Syndrome? (Definition)

(Symptoms, Causes & Treatment)

According to the U.S. National Library of Medicine, Chediak-Higashi syndrome is a condition which can affect many different parts of the body, but especially the immune system. This disease damages immune system cells, leaving them less able to fight off various viruses and bacteria. As a result, most people with Chediak-Higashi syndrome have repeated and persistent infections starting in infancy or early childhood. These infections tend to be very serious or life-threatening.

Chediak-Higashi syndrome is also characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes. People who are affected, typically have fair skin and light-colored hair, often with a metallic sheen. Oculocutaneous albinism also causes vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).

People with Chediak-Higashi syndrome can also experience problems with blood clotting (coagulation) that lead to easy bruising and abnormal bleeding. In adulthood, Chediak-Higashi syndrome can also affect the nervous system, causing weakness, clumsiness, difficulty with walking, and seizures.

See below for updated news and information regarding Chediak Higashi Syndrome including new medical research, treatment options and advancements. 

Latest Chediak Higashi Syndrome Research – Treatment News, Discoveries and Findings

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Clinical Trials – Investigational Therapies

For information on current clinical trials, visit www.clinicaltrials.gov. This is a searchable registry and results database of federally and privately supported clinical trials taking place in the U.S and abroad. ClinicalTrials.gov provides information about a trial’s purpose, who may participate, locations, and phone numbers. This information should be used in conjunction with advice from health care professionals.

For information about clinical trials being conducted at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Toll Free: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@mail.cc.nih.gov

For information about clinical trials conducted in Europe, visit: https://www.clinicaltrialsregister.eu/ctr-search/search

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