4 free views remaining today

Chediak-Higashi syndrome

ICD-10 Codes

Related ICD-10:

Description

Chediak-Higashi Syndrome: A Rare Immune Disorder

Chediak-Higashi syndrome (CHS) is a rare and complex immune disorder that affects multiple parts of the body, particularly the immune system. This condition is characterized by a weakened immune system, which makes it difficult for the body to fight off infections.

Key Features of CHS:

  • Recurrent Infections: People with CHS often experience repeated and persistent infections starting in infancy and childhood.
  • Immune System Weakness: The immune system is compromised, making it harder for the body to fight off invaders such as viruses and bacteria.
  • Oculocutaneous Albinism: CHS is also associated with pale-colored hair, eyes, and skin due to a lack of melanin production.
  • Blood Clotting Problems: Some individuals may experience bleeding tendencies or blood clotting problems.
  • Nervous System Abnormalities: Late adolescent- to adult-onset neurologic manifestations can occur, including learning difficulties, peripheral neuropathy, ataxia, and parkinsonism.

Causes and Diagnosis:

CHS is a genetic disorder caused by mutations in the lysosomal trafficking regulator (LYST) gene. Genetic testing can confirm the diagnosis of CHS. The disease is inherited in an autosomal recessive pattern, meaning that both parents must be carriers of the mutated gene for their child to develop the condition.

Treatment and Prognosis:

While there is no cure for CHS, treatment options include prophylactic antibiotics to prevent infections. Early diagnosis and management can help improve outcomes and quality of life for individuals with this rare disorder.

References:

  • [1] (CHS) is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis.
  • [2] Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype
  • [3] Chédiak–Higashi syndrome is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis.
  • [4] Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, a mild bleeding tendency, and late adolescent- to adult-onset neurologic manifestations.

Additional Characteristics

  • Recurrent Infections
  • Oculocutaneous Albinism
  • Blood Clotting Problems
  • Immune System Weakness
  • Nervous System Abnormalities

Signs and Symptoms

Common Signs and Symptoms of Chediak-Higashi Syndrome

Chediak-Higashi syndrome (CHS) is a rare genetic disorder that affects multiple systems in the body, including the immune system, nervous system, and skin. The following are some common signs and symptoms associated with CHS:

  • Oculocutaneous albinism: People with CHS often have pale skin, light-colored or white hair, and pink or pale blue-gray eyes.
  • Increased infections: Individuals with CHS are prone to recurrent and persistent infections, particularly in the lungs, skin, and mucous membranes.
  • Neurological dysfunction: CHS can cause a range of neurological problems, including weakness, difficulty walking, seizures, paresthesia (tingling or numbness), ataxia (loss of coordination), parkinsonism, and peripheral neuropathy.
  • Blood clotting problems: Some people with CHS may experience bleeding or bruising easily due to platelet abnormalities.
  • Immune system weakness: The immune system is compromised in individuals with CHS, making them more susceptible to infections.

Age of Onset

Signs and symptoms of CHS typically begin to manifest shortly after birth or by age five at the latest. In some cases, they may not become apparent until later in childhood or even adulthood.

References:

  • [6] Silver hair, light-colored eyes (albinism), increased infections in the lungs, skin, and mucous membranes, and jerky eye movements are symptoms of CHS.
  • [10] Signs and symptoms include a weakened immune system, repeated and persistent infections beginning in infancy and childhood, oculocutaneous albinism, blood clotting problems, and nervous system abnormalities (e.g., weakness, difficulty walking, and seizures).
  • [14] Oculocutaneous albinism, or hypopigmentation of the hair, eyes, and skin; hair is described as light in color with a metallic sheen.
  • [15] Recurrent pyogenic infections, albinism, and peripheral neuropathy are symptoms of CHS.

Additional Symptoms

Diagnostic Tests

Diagnostic Tests for Chediak-Higashi Syndrome

Chediak-Higashi syndrome (CHS) can be diagnosed through a combination of clinical evaluation and laboratory tests.

  • Peripheral Blood Smear: A characteristic feature of CHS is the presence of giant granules in neutrophils, eosinophils, and granulocytes. This can be observed on a routine blood smear using light microscopy [2].
  • Complete Blood Count (CBC): A CBC may show neutropenia (low white blood cell count) and hypergammaglobulinemia (high levels of gamma globulins in the blood) [2].
  • Genetic Testing: Molecular genetic testing can confirm the diagnosis by identifying pathogenic variants in the CHS1/lysosomal trafficking regulator (LYST) gene [5, 12]. This is considered a definitive diagnostic test for CHS.
  • Imaging Studies: Imaging studies such as MRI or CT scans of the brain may be performed to assess any neurological involvement [8].
  • Electrophysiological Tests: Electrophysiological tests such as EEG and EMG may also be conducted to evaluate any neurological symptoms [8].

It's worth noting that a diagnosis of CHS can only be confirmed through genetic testing, but clinical evaluation and laboratory tests can help support the diagnosis.

Additional Diagnostic Tests

  • Imaging Studies
  • Complete Blood Count (CBC)
  • Genetic Testing
  • Electrophysiological Tests
  • Peripheral Blood Smear

Treatment

Treatment Options for Chediak-Higashi Syndrome

Chediak-Higashi syndrome (CHS) is a rare genetic disorder that requires prompt and effective treatment to manage its symptoms and prevent complications. While there is no cure for CHS, various drug treatments can help alleviate the condition's manifestations.

  • Antibiotics: Antibiotics are used to treat and prevent infections, which are a common complication of CHS. These medications can be administered orally or intravenously, depending on the severity of the infection.
  • Interferon gamma (IFN-γ): IFN-γ is a medication that modifies the immune system's response, helping it function better in individuals with CHS. This treatment can help reduce the frequency and severity of infections.
  • Corticosteroids: Corticosteroids may be prescribed to temporarily relieve symptoms such as inflammation and swelling. However, their use should be carefully managed due to potential side effects.
  • Antiviral drugs: Antiviral medications like acyclovir may be used to treat viral infections that can occur in individuals with CHS.
  • Chemotherapy drugs: In some cases, chemotherapy drugs may be administered to manage the accelerated phase of CHS.

Additional Treatment Options

In addition to these drug treatments, other interventions may be necessary to manage specific symptoms or complications associated with CHS. These include:

  • Bone marrow transplantation: This is a more invasive treatment that involves replacing the affected bone marrow with healthy stem cells from an HLA-matched donor.
  • Immune globulin intravenous (IVIG): IVIG can help neutralize pathogens and reduce the risk of infections.

References

  1. [5] - Treatment includes prophylactic antibiotics, interferon gamma, and sometimes corticosteroids.
  2. [8] - Antibiotics are used to treat and, sometimes, prevent infections. Antiviral drugs, such as acyclovir, and chemotherapy drugs are often administered.
  3. [15] - Treatment of Chédiak-Higashi syndrome involves antibiotics to help prevent infections and interferon gamma (a medication that modifies the immune system) to help the immune system function better.

Please note that these treatment options should only be discussed with a qualified healthcare professional, as they may vary depending on individual circumstances.

Recommended Medications

  • Corticosteroids
  • Antibiotics
  • Antiviral drugs
  • Interferon gamma (IFN-γ)
  • Chemotherapy drugs

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Differential Diagnoses for Chediak-Higashi Syndrome

Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by recurrent bacterial infections, oculocutaneous albinism, progressive neurologic abnormalities, mild coagulation defects, and a high risk of developing hemophagocytic lymphohistiocytosis (HLH). When considering the differential diagnosis for CHS, several conditions should be taken into account.

  • Oculocutaneous Albinism: This condition is characterized by reduced pigment in the skin, hair, and eyes. While it shares some similarities with CHS, oculocutaneous albinism typically does not involve immunodeficiency or neurologic abnormalities.
  • Hermansky-Pudlak Syndrome (HPS-2): Specifically caused by mutations in AP3B1, HPS-2 is a rare genetic disorder that affects the production of melanin and can lead to oculocutaneous albinism. However, it does not typically involve immunodeficiency or neurologic abnormalities.
  • Cross Syndrome: This is another rare genetic disorder that can cause oculocutaneous albinism, but it is not typically associated with immunodeficiency or neurologic abnormalities.

Key Features to Consider

When differentiating CHS from other conditions, the following features should be considered:

  • Giant Cytoplasmic Granules: The presence of giant cytoplasmic granules in neutrophils on a peripheral blood smear is a key feature that suggests CHS.
  • Polarized Light Microscopy: This diagnostic tool can aid in the differential diagnosis between CHS and Griscelli-Prunieras syndromes by examining hair shafts.

References

[4] [5] [6]

These conditions should be considered as part of the differential diagnosis for Chediak-Higashi syndrome. A thorough evaluation, including laboratory tests and molecular analysis, is necessary to confirm a diagnosis of CHS.

Additional Information

oboInOwl#hasOBONamespace
disease_ontology
rdf-schema#comment
OMIM mapping confirmed by DO. [SN].
oboInOwl#id
DOID:2935
core#notation
DOID:2935
oboInOwl#hasDbXref
UMLS_CUI:C0007965
oboInOwl#hasExactSynonym
CHS
rdf-schema#label
Chediak-Higashi syndrome
IAO_0000115
A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42.
rdf-schema#subClassOf
t423312
oboInOwl#inSubset
http://purl.obolibrary.org/obo/doid#NCIthesaurus
IDO_0000664
http://purl.obolibrary.org/obo/GENO_0000148
relatedICD
http://example.org/icd10/E70.330
22-rdf-syntax-ns#type
http://www.w3.org/2002/07/owl#Class
rdf-schema#domain
https://w3id.org/def/predibionto#has_symptom_10041
owl#annotatedSource
t422983

Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.

It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.