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# Chédiak–Higashi syndrome

A rare inherited disorder with light [skin](https://durgical.com/en/anatomy/skin/), hair and eyes, frequent infections, easy bleeding and giant granules in white blood cells.

Updated 2026-11-01

## Structures involved

Tap one to see what it is and open it in 3D.

- [Iris](https://durgical.com/en/anatomy/iris/)
- [Skin](https://durgical.com/en/anatomy/skin/)
- [Spleen](https://durgical.com/en/anatomy/spleen/)
- [Retina](https://durgical.com/en/anatomy/retina/)
- [Neck lymph nodes](https://durgical.com/en/anatomy/lymph-nodes-of-neck/)
- [Liver](https://durgical.com/en/anatomy/liver/)
- [Gums (gingiva)](https://durgical.com/en/anatomy/gums/)

## Why it happens

- [Mendelian inheritance: autosomal dominant, recessive and X-linked](https://durgical.com/en/general-pathology/mendelian-inheritance-autosomal-dominant-recessive-and-x-linked/)
- [Leukocyte recruitment: rolling, adhesion, transmigration, chemotaxis](https://durgical.com/en/general-pathology/leukocyte-recruitment-rolling-adhesion-transmigration-chemotaxis/)
- [White blood cells: types and functions](https://durgical.com/en/physiology/white-blood-cells-types-and-functions/)
- [Organelles: nucleus, ER, Golgi, mitochondria, lysosomes, peroxisomes](https://durgical.com/en/histology/organelles-nucleus-er-golgi-mitochondria-lysosomes-peroxisomes/)

## What it is

An autosomal recessive disorder of lysosome trafficking caused by LYST variants. Giant fused lysosomal granules appear in neutrophils and other cells, and giant melanosomes cause partial oculocutaneous albinism. It combines recurrent pyogenic infections, a mild bleeding tendency, progressive neurological disease and, in most untreated children, a life-threatening accelerated phase of haemophagocytic lymphohistiocytosis.

## Who gets it

Very rare, with a few hundred cases reported worldwide. It appears more often in families with consanguinity. Symptoms usually begin in infancy or early childhood; milder forms present in adolescence or adulthood with neurological disease.

## Causes

- Biallelic (autosomal recessive) variants in LYST, which encodes the lysosomal trafficking regulator

## Risk factors

- Parental consanguinity
- Both parents carriers (25% risk in each pregnancy)

## Pathophysiology

Defective LYST causes uncontrolled fusion of lysosomes and lysosome-related organelles into giant granules. In neutrophils, granules cannot release their contents into phagosomes, and chemotaxis and killing are impaired, leading to pyogenic infections. Giant melanosomes clump pigment, producing silvery hair and pale skin and eyes. Platelet dense granules are deficient, causing a bleeding tendency. Cytotoxic T cells and NK cells cannot release granules, so viral infections, especially Epstein-Barr virus, trigger uncontrolled lymphocyte and macrophage activation (accelerated phase or haemophagocytic lymphohistiocytosis). Neurons are also affected, causing late neurological decline.

## Classification

- Classic childhood form with severe infections and risk of the accelerated phase
- Accelerated phase (haemophagocytic lymphohistiocytosis)
- Attenuated adolescent or adult form with mainly neurological disease

## Symptoms and signs

- Partial albinism: light skin, silvery or metallic grey hair and light [iris](https://durgical.com/en/anatomy/iris/)
- Photophobia, nystagmus and reduced vision
- Recurrent bacterial infections of skin, respiratory tract and gums (Staphylococcus aureus, streptococci)
- Easy bruising, nosebleeds and gum bleeding
- Severe periodontitis
- Later weakness, clumsiness, tremor, peripheral neuropathy, seizures and cognitive decline

## Red flags

- Persistent fever with enlarging liver and [spleen](https://durgical.com/en/anatomy/spleen/), lymphadenopathy and falling blood counts (accelerated phase)
- Very high ferritin, low fibrinogen or high triglycerides
- Severe infection with neutropenia
- Significant bleeding
- New ataxia, weakness or seizures

## Diagnosis

**Clinical**
Suspect it in a child with partial albinism (silvery hair) plus recurrent pyogenic infections, especially if there is a bleeding tendency or a haemophagocytic picture.

**Tests**
Peripheral blood smear showing giant granules in neutrophils and other granulocytes (key finding); complete blood count (neutropenia); hair microscopy showing irregular clumps of pigment; platelet function testing; NK-cell function; genetic testing for LYST. In the accelerated phase: ferritin, triglycerides, fibrinogen, [liver](https://durgical.com/en/anatomy/liver/) tests and bone marrow examination.

**Imaging**
Abdominal ultrasound for hepatosplenomegaly; brain MRI and nerve conduction studies for neurological disease.

## Differential diagnosis

- Griscelli syndrome type 2 and Hermansky-Pudlak syndrome (albinism with immune or platelet defects)
- Oculocutaneous albinism without immunodeficiency
- Familial haemophagocytic lymphohistiocytosis
- Chronic granulomatous disease and other phagocyte defects
- Leukocyte adhesion deficiency

## Goal of treatment

Cure the blood and immune defects with haematopoietic stem cell transplantation before the accelerated phase, while preventing infections and bleeding; neurological disease is not corrected by transplantation.

## Treatment

**Procedure**
Haematopoietic stem cell transplantation, the only curative treatment for the haematological and immune defects.

**Acute**
Accelerated phase: haemophagocytic lymphohistiocytosis protocols with corticosteroids, etoposide and other immunosuppression, followed by transplantation.

**Medical**
Prompt antibiotics for infections, sometimes long-term prophylaxis; antiviral drugs when a viral trigger is present.

**Acute**
Platelet transfusion or desmopressin for bleeding or before procedures.

**Conservative**
Dental and periodontal care, sun protection and visual aids.

**Follow-up**
Monitoring: blood counts, signs of haemophagocytosis, neurological and eye follow-up, rehabilitation.

## Complications

- Accelerated phase (haemophagocytic lymphohistiocytosis) with multi-organ failure
- Severe or fatal infections
- Bleeding
- Progressive neurological disease and peripheral neuropathy
- Periodontitis and tooth loss
- Reduced vision

## Prognosis

Without transplantation, most children die in the first decade from infection or the accelerated phase. Transplantation before the accelerated phase improves survival, but neurological decline can still appear in adulthood.

## Prevention

- Genetic counselling and carrier testing in affected families
- Prenatal diagnosis when the familial variants are known

## Test yourself

Think of the answer, then tap the question to see it.

## What is the key finding on the blood smear?

Giant cytoplasmic granules (fused lysosomes) in neutrophils and other leukocytes.

## Which gene is mutated and what is the inheritance?

LYST; autosomal recessive.

## What life-threatening phase occurs in most untreated children?

The accelerated phase, a form of haemophagocytic lymphohistiocytosis, often triggered by Epstein-Barr virus.

## Which clinical combination suggests the diagnosis?

Partial albinism (silvery hair) with recurrent pyogenic infections, bleeding tendency and later neuropathy.

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## Related conditions

- [Oculocutaneous albinism](https://durgical.com/en/conditions/oculocutaneous-albinism/)
- [Peripheral neuropathy (diabetic and other)](https://durgical.com/en/conditions/peripheral-neuropathy/)
- [Periodontitis](https://durgical.com/en/conditions/periodontitis/)
- [Chronic granulomatous disease](https://durgical.com/en/conditions/chronic-granulomatous-disease/)
- [Leukocyte adhesion deficiency](https://durgical.com/en/conditions/leukocyte-adhesion-deficiency/)
- [Infectious mononucleosis](https://durgical.com/en/conditions/infectious-mononucleosis/)
- [Abscess, furuncle and carbuncle](https://durgical.com/en/conditions/abscess-furuncle-and-carbuncle/)

Educational information, not medical advice. For any symptom, see a health professional.

Sources: [Chediak-Higashi syndrome](https://medlineplus.gov/genetics/condition/chediak-higashi-syndrome/) (MedlinePlus Genetics (U.S. National Library of Medicine), 2014); [Chediak-Higashi syndrome](https://medlineplus.gov/ency/article/001312.htm) (MedlinePlus Medical Encyclopedia (U.S. National Library of Medicine), 2025).

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Source: https://durgical.com/en/conditions/chediak-higashi-syndrome/
License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/conditions/chediak-higashi-syndrome/