Sea-Blue Histiocytosis Syndrome

Genetic and acquired forms of this clinical entity exist. It is associated to the presence of sea-blue histiocytes in the bone marrow and a cholesterol ester storage disease. It is clinically characterized by the presence of splenomegaly, mild thrombocytopenia, and progressive neurological disease (e.g., ataxia, dementia and seizures).

Sea-Blue Histiocytosis Disease; Niemann-Pick Disease type F.

The incidence is unknown, however, the presence of sea-blue histiocytes is a common abnormality of the bone marrow in myelodysplastic syndromes.

Autosomal recessive.

Unknown. Sea-Blue Histiocytosis syndrome is named for its characteristic macrophage. There are densely packed granules that stain blue with Wright-Giemsa stain. This syndrome is associated with abnormal storage of phosphosphingolipid and glycosphingolipid, which occurs mainly in the spleen and liver.

Bone marrow examination reveals the characteristic cells. Also, an hepatosplenomegaly workup confirms the diagnosis for hepatosplenomegaly.

Usually diagnosed before the age of 40 years. Hepatosplenomegaly, thrombocytopenia, macular abnormalities, pulmonary infiltrates on chest radiograph, patchy brownish-gray pigmentation of the upper body, occasional neurologic abnormalities (ataxia, dementia, seizures), predisposition for parasitic infections, and elevated bleeding times in albino patients with normal platelet counts.

Check platelet count. Document neurologic abnormalities. Platelet availability.

Avoid central-neuraxial anesthesia in albino patient even with normal platelet counts (increased bleeding times) and patients with thrombocytopenia. Platelets should be transfused if platelet counts is less than 50,000/mm3, in presence of active oozing or bleeding and in Albino patients.

There are no specific pharmacological implications.