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Hermansky-Pudlak syndrome 5
ICD-10 Codes
Related ICD-10:
Description
Hermansky-Pudlak Syndrome 5 (HPS5) Overview
Hermansky-Pudlak syndrome-5 (HPS5) is a rare genetic disorder characterized by several distinct features. The main symptoms of HPS5 include:
- Oculocutaneous albinism: This condition causes abnormally light coloring (pigmentation) of the skin, hair, and eyes [1][2][4].
- Bleeding diathesis: Individuals with HPS5 may experience a bleeding tendency due to platelet dysfunction [1][4].
- Lack of platelet dense bodies: Platelet dense bodies are small structures within platelets that play a crucial role in blood clotting. In HPS5, these structures are absent or reduced in number [1][4].
HPS5 is a rare condition, and its exact prevalence is unknown. However, it is considered to be one of the several subtypes of Hermansky-Pudlak syndrome (HPS), which is a group of genetic disorders characterized by oculocutaneous albinism, bleeding diathesis, and other systemic features [3][5].
References: [1] Context result 1 [2] Context result 6 [3] Context result 9 [4] Context result 7 [5] Context result 8
Additional Characteristics
- Oculocutaneous albinism
- Bleeding diathesis
- HPS5
- Lack of platelet dense bodies
Signs and Symptoms
Diagnostic Tests
Diagnostic Tests for Hermansky-Pudlak Syndrome 5 (HPS5)
Hermansky-Pudlak Syndrome 5 (HPS5) is a rare genetic disorder that affects the production of melanin, leading to oculocutaneous albinism. Diagnostic tests are essential for confirming the presence of HPS5 in individuals with suspected symptoms.
Clinical Diagnosis
The clinical diagnosis of HPS5 can be established based on characteristic eye findings and hypopigmentation of the skin and hair [1]. A thorough medical examination, including a review of the patient's medical history, is crucial for identifying potential cases of HPS5.
Genetic Testing
Genetic testing is the most definitive way to diagnose HPS5. This involves analyzing DNA from whole blood or other acceptable specimen types to identify mutations in the specific genes associated with the condition [3]. A 23-gene panel that includes assessment of non-coding variants can be ideal for patients with a clinical suspicion of Hermansky-Pudlak Syndrome, including HPS5 [6].
Molecular Genetic Testing
Molecular genetic testing is used to confirm the diagnosis of HPS by showing mutations in the specific genes associated with the condition. This test can identify changes (mutations) in the genes responsible for HPS5 [9].
Other Diagnostic Tests
Individuals with unexplained oculocutaneous albinism, vision problems, and blood clotting deficiencies may also benefit from testing for HPS5. A clinical resource provides information on genetic tests available from US labs around the world [2]. Additionally, a panel designed for the detection of germline variants in 10 genes known to cause Hermansky-Pudlak syndrome can be ordered as Next Generation Sequencing (NGS) [3].
Specimen Requirements
Note that acceptable specimen types for HPS5 testing are whole blood and DNA from whole blood only. It is essential to follow the specific guidelines provided by the testing laboratory.
References:
[1] WJ Introne ยท 2023 ยท Cited by 49 โ The clinical diagnosis of HPS can be established in a proband with hypopigmentation of the skin and hair, characteristic eye findings, and ...
[2] Clinical resource with information about Hermansky-Pudlak syndrome 5 and its clinical features, HPS5, available genetic tests from US and labs around the ...
[3] This panel is designed for the detection of germline variants in 10 genes known to cause Hermansky-Pudlak syndrome. It can be ordered as: Next Generation ...
[6] Nov 13, 2023 โ Is a 23 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of Hermansky-Pudlak Syndrome ...
[9] The diagnosis of HPS is confirmed through molecular genetic testing which will show mutations (changes) in the specific genes. Can it be treated? Treatment for ...
Additional Diagnostic Tests
- Genetic testing
- Molecular Genetic Testing
- A 23-gene panel that includes assessment of non-coding variants
- Next Generation Sequencing (NGS)
Treatment
Treatment Options for Hermansky-Pudlak Syndrome 5 (HPS5)
Hermansky-Pudlak Syndrome 5 (HPS5) is a rare genetic disorder characterized by oculocutaneous albinism, bleeding diathesis, and lack of platelet dense bodies. While there are no specific treatments that can cure HPS5, various medications have been used to manage its symptoms.
Medications Used in Treatment
- Anti-inflammatory medications: These may be prescribed to help manage inflammation and reduce the risk of bleeding complications [4].
- Immunosuppressants: In some cases, immunosuppressive medications may be used to treat HPS5-related colitis or other inflammatory conditions [1
Recommended Medications
- Anti-inflammatory medications
- Immunosuppressants
๐ 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 Diagnosis of Hermansky-Pudlak Syndrome 5 (HPS5)
Hermansky-Pudlak Syndrome 5 (HPS5) is a rare genetic disorder characterized by oculocutaneous albinism, a bleeding diathesis, and lack of platelet dense bodies. When diagnosing HPS5, it's essential to consider differential diagnoses that may present similar symptoms.
Other forms/causes of oculocutaneous albinism:
- X-linked ocular albinism
- Chediak-Higashi syndrome
- Griscelli syndrome
- Cross syndrome
These conditions can cause similar visual and skin-related symptoms, making differential diagnosis crucial. [1][2][3]
Pulmonary fibrosis and hemophagocytic lymphohistiocytosis:
- These conditions can present with similar respiratory and bleeding symptoms, requiring careful evaluation to rule out HPS5.
Differential diagnosis approach:
To accurately diagnose HPS5, a comprehensive evaluation of the patient's medical history, physical examination, and laboratory findings is necessary. This may include:
- Genetic testing to confirm the presence of the BLOC1S5 gene mutation
- Platelet function tests to assess platelet dense body deficiency
- Ophthalmological evaluation to rule out other forms of oculocutaneous albinism
A thorough differential diagnosis approach will help healthcare professionals accurately diagnose HPS5 and provide appropriate treatment. [4][5]
Additional Differential Diagnoses
- X-linked ocular albinism
- hemophagocytic lymphohistiocytosis
- N syndrome
- Griscelli syndrome
- pulmonary fibrosis
- Chediak-Higashi syndrome
Additional Information
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- MIM:614074
- IAO_0000115
- A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14.
- rdf-schema#label
- Hermansky-Pudlak syndrome 5
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