Sea Blue Histiocytosis is an exceedingly rare inherited disorder characterized by the abnormal accumulation of a specific type of white blood cell in various organs of the body. This condition derives its name from the distinctive blue-green hue observed under microscopic examination of affected tissues. Sea Blue Histiocytosis primarily affects the liver, spleen, and bone marrow.
Individuals with this condition typically experience a deficiency in a specific enzyme required for the metabolism of certain fats, resulting in the storage of lipid-filled cells in affected organs. The lipid-filled cells, termed histiocytes, become visibly blue when stained, giving rise to the descriptive term "sea blue" in the disorder's name.
Symptoms of Sea Blue Histiocytosis may vary widely among individuals and can include hepatomegaly (enlargement of the liver), splenomegaly (enlargement of the spleen), and bone marrow dysfunction leading to a decrease in the production of blood cells. The severity and progression of symptoms can also vary.
Sea Blue Histiocytosis is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene - one from each parent- to develop the disorder. The gene responsible for this condition primarily affects the functioning of cells that produce certain lipids.
The diagnosis of Sea Blue Histiocytosis is typically made through a combination of clinical examination, medical imaging studies, and laboratory tests. Treatment options for this disorder are generally supportive and aim to manage symptoms and complications that arise. Genetic counseling may be recommended for affected individuals and their families.
