The key difference between Hermansky-Pudlak syndrome and Chediak Higashi syndrome is that Hermansky-Pudlak syndrome is a rare hereditary disease characterized by decreased pigmentation, visual impairment, and blood platelet dysfunction, while Chediak-Higashi syndrome is a rare hereditary disease characterized by reduced pigments in the skin and eyes and immune deficiency with an increased susceptibility to infections.
Hermansky-Pudlak syndrome and Chediak-Higashi syndrome are two rare hereditary disorders. Both these disorders are characterized by decreased pigmentation and problems with bleeding. However, they are two different disorders with different causes.
CONTENTS
1. Overview and Key Difference
2. What is Hermansky-Pudlak Syndrome
3. What is Chediak Higashi Syndrome
4. Similarities – Hermansky-Pudlak Syndrome and Chediak Higashi Syndrome
5. Hermansky-Pudlak Syndrome vs Chediak Higashi Syndrome in Tabular Form
6. Summary – Hermansky-Pudlak Syndrome vs Chediak Higashi Syndrome
What is Hermansky-Pudlak Syndrome?
Hermansky-Pudlak syndrome is a rare hereditary disease. It is characterized by decreased pigmentation, visual impairment, and blood platelet dysfunction. In this condition, prolonged bleeding is also present. Some patients who suffer from this inherited condition may also have lung fibrosis, colitis, and abnormal storage of fatty-like substances called ceroid lipofuscin in various tissues of the body. Hermansky-Pudlak syndrome is caused by mutations in the genes HPS1, HPS3, HPS4, HPS5, HPS6, and HPS7, which are responsible for making proteins complexes that play a pivotal role in the formation and movement of a group of structures called lysosome-related organelles (LROs). This disorder is estimated to affect 1 in 500000 to 1000000 individuals worldwide. Moreover, this condition is inherited in an autosomal recessive pattern.
Hermansky-Pudlak syndrome can be diagnosed through family history, clinical findings, and molecular testing such as genes and sequence analysis. Furthermore, there is no proper care for this disorder. Anyhow, chronic haemorrhages can be treated by therapy with vitamin E and antidiuretic peptide 1-deamino-8-d-arginine vasopressin (dDAVP). The other treatment options available are ocular surgeries, endotracheal anaesthesia, and phacoemulsification.
What is Chediak-Higashi Syndrome?
Chediak-Higashi syndrome is a rare hereditary disease characterized by reduced pigments in the skin and eyes (oculocutaneous albinism) and immune deficiency with an increased susceptibility to infections. The other notable signs and symptoms of this disease are bruising or bleeding, neurological deficits, silvery hair, solar sensitivity, and photophobia. This disorder is caused by mutations in the lysosomal trafficking regulator (LYST) gene, which leads to the disruption of protein synthesis as well as the storage and secretory function of lysosomal granules in white blood cells. This is a very rare disorder. Only about 200 cases of this condition have been reported worldwide, and it also follows autosomal recessive inheritance.
Moreover, diagnosis of this condition is made through family history, clinical findings, bone marrow smears, scalp biopsies, and genetic testing. Furthermore, there is no specific treatment for this disorder. But bone marrow transplantation, antibiotics, antiviral drugs (for infections), medications like cyclophosphamide and prednisone, and vitamin C therapy for (immune and clotting problems) are helpful.
What are the Similarities Between Hermansky-Pudlak Syndrome and Chediak Higashi Syndrome?
- Hermansky-Pudlak syndrome and Chediak-Higashi syndrome are two rare hereditary disorders.
- Both these disorders are characterized by decreased pigmentation and problems with bleeding.
- Both disorders are inherited in an autosomal recessive pattern.
- They are caused due to mutations in genes associated with lysosomal function.
- Both disorders can be diagnosed through clinical findings and genetic testing.
- There are no specific treatments for both of these disorders.
What is the Difference Between Hermansky-Pudlak Syndrome and Chediak Higashi Syndrome?
Hermansky-Pudlak syndrome is characterized by decreased pigmentation, visual impairment, and blood platelet dysfunction, while Chediak-Higashi syndrome is characterized by the reduced pigment in the skin and eyes and immune deficiency with an increased susceptibility to infections. Thus, this is the key difference between Hermansky-Pudlak syndrome and Chediak Higashi syndrome. Furthermore, Hermansky-Pudlak syndrome is caused due to mutation in genes such as HPS1, HPS3, HPS4, HPS5, HPS6, and HPS7, while Chediak Higashi syndrome is caused due to mutation in a gene called LYST.
The below infographic presents the differences between Hermansky-Pudlak syndrome and Chediak Higashi syndrome in tabular form for side-by-side comparison.
Summary – Hermansky-Pudlak Syndrome vs Chediak Higashi Syndrome
Hermansky-Pudlak syndrome and Chediak-Higashi syndrome are two rare hereditary disorders. Both these disorders are inherited as an autosomal recessive genetic trait. However, Hermansky-Pudlak syndrome is characterized by decreased pigmentation, visual impairment, and blood platelet dysfunction, while Chediak-Higashi syndrome is characterized by reduced pigment in the skin and eyes and immune deficiency with an increased susceptibility to infections. So, this summarizes the difference between Hermansky-Pudlak syndrome and Chediak Higashi syndrome.
Reference:
1. “Hermansky Pudlak Syndrome – Symptoms, Causes, Treatment.” National Organization for Rare Disorders, 12 Jan. 2023.
2. “Chediak Higashi Syndrome – Symptoms, Causes, Treatment.” National Organization for Rare Disorders, 12 Jan. 2023.
Image Courtesy:
1. “Albino-white-asian-albinism-skin” (CC0) via Pixabay
2. “Iris transillumination in child with oculocutaneous albinism. She has dyed her eyelashes black.” By Community Eye Health (CC0) via Pixabay