Eiken syndrome is a rare autosomal bone dysplasia with a skeletal phenotype which has been described in a unique consanguineous family, where it segregates as a recessive trait. References
Further reading
Duchatelet, Sabine; Ostergaard, Elsebet; Cortes, Dina; Lemainque, Arnaud; Julier, Cécile (2005). "Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes". Human Molecular Genetics. Oxford Journals. 14 (1): 1–5. doi:10.1093/hmg/ddi001. PMID 15525660. Eiken M, Prag J, Petersen K, Kaufmann H: - A new familial skeletal dysplasia with severely retarded ossification and abnormal modeling of bones especially of the epiphyses, the hands, and feet. Eur J Pediatr 1984, 141:231-235. == External links ==
This is due to the presence of structures resembling platelets in the blood such as needle-like cryoglobulin crystals, cytoplasmic fragments of circulating leukemic cells, bacteria, and red blood cell microvesicles. These structures are counted as platelets by the automated machine counter; therefore, causing the platelet number to be falsely elevated. However, such error can be avoided by doing a peripheral blood smear. Diagnosis
Laboratory tests might include: full blood count, liver enzymes, renal function and erythrocyte sedimentation rate.If the cause for the high platelet count remains unclear, bone marrow biopsy is often undertaken, to differentiate whether the high platelet count is reactive or essential. Treatment
Often, no treatment is required or necessary for reactive thrombocytosis. In cases of reactive thrombocytosis of more than 1,000x109/L, it may be considered to administer daily low dose aspirin (such as 65 mg) to minimize the risk of stroke or thrombosis.However, in essential thrombocythemia where platelet counts are over 750x109/L or 1,000x109/L, especially if there are other risk factors for thrombosis, treatment may be needed. Selective use of aspirin at low doses is thought to be protective. Extremely high platelet counts can be treated with hydroxyurea (a cytoreducing agent) or anagrelide (Agrylin).In Janus kinase 2 positive disorders, ruxolitinib (Jakafi) can be effective. References
Schafer AI (March 2004). "Thrombocytosis". N. Engl. J. Med. 350 (12): 1211–9. doi:10.1056/NEJMra035363. PMID 15028825. == External links ==