Hermansky-Pudlak syndrome

Hermansky-Pudlak Syndrome (HPS) Signs and Symptoms

Hermansky-Pudlak syndrome is a rare genetic disorder characterized by a combination of signs and symptoms that affect multiple body systems. The classic symptoms of HPS include:

• Oculocutaneous albinism: Abnormally light coloring (pigmentation) of the skin, hair, and eyes [8][9]
• Visual impairment: Poor vision, crossed-eyes (strabismus), and uncontrolled eye movement from side to side (nystagmus) are common in HPS patients [7][9]
• Bleeding tendency: Easy bruising, bleeding gums, nose bleeds, and excessive bleeding after surgery or accidents are often the first symptoms of HPS [2][4]

Other symptoms associated with Hermansky-Pudlak syndrome include:

• Immune problems: Recurrent infections and granulomatous colitis may impact life expectancy and quality of life [6]
• Lung scarring (pulmonary fibrosis): A potentially lethal complication unless transplanted [6]
• Colitis: Inflammation of the colon, which can lead to symptoms such as abdominal pain, diarrhea, and weight loss
• Skin cancer: Increased risk of skin cancer due to albinism

It's essential to note that the severity and range of symptoms in HPS patients can vary greatly, from mild with few symptoms to very severe and disabling [11]. The diagnosis of Hermansky-Pudlak syndrome may be suspected on clinical grounds when a child presents with unexpectedly light-colored hair, skin, and eyes associated with a tendency to bleeding [13].

References:

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Diagnostic Tests for Hermansky-Pudlak Syndrome

Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder that can be diagnosed through various tests. Here are some of the diagnostic tests used to confirm HPS:

• Clinical diagnosis: The clinical diagnosis of HPS can be established in a proband with hypopigmentation of the skin and hair, characteristic eye findings, and a bleeding diathesis [1]. This is often followed by genetic testing.
• Genetic testing: Genetic testing is helpful in establishing a molecular diagnosis of HPS. It involves analyzing the genes responsible for the syndrome, such as the HPS1 gene [3].
• Platelet defect testing: Testing for the platelet defect can be done if gene testing has not been performed. This test can help confirm the presence of dense granules on platelets, which is characteristic of HPS [2].
• Electron microscopy: Electron microscopy can be used to demonstrate the characteristic appearance of blood platelets under an electron microscope, consistent with HPS [4].
• Molecular genetic testing: Molecular genetic testing is recommended for the parents of a proband who has been diagnosed with HPS to confirm carrier status and predict expected symptoms [8].

References

[1] Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, and/or immunodeficiency.

[2] The method for a differential diagnosis remains testing for the platelet defect if gene testing has not been done.

[3] Blueprint Genetics' Hermansky-Pudlak Syndrome Panel Is ideal for patients with a clinical suspicion of Hermansky-Pudlak Syndrome.

[4] A specialized test demonstrating characteristic appearance of the blood platelets under an electron microscope is consistent with the diagnosis of HPS.

[8] If a molecular diagnosis has been established in the proband, molecular genetic testing is recommended for the parents of a proband to confirm carrier status and predict expected symptoms.