Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P15088 (mast cell)
 14,925 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Osteoporosis is frequently seen in systemic mastocytosis. Although diphosphonate therapy has been shown to be transiently effective, therapy options for this form of osteopenia are very limited. We have treated three patients with systemic mastocytosis and osteopenia successfully with interferon alpha-2b. Two patients had urticaria pigmentosa and two severe back pain due to vertebral compression fractures. All patients received a daily interferon dose of 3 x 5 mio units/week s.c. for a period of 6 months. Therapy was well tolerated, and back pain resolved in both patients. A marked decrease of mast cell numbers in the bone marrow and a significant increase of bone mineralization and bone density was observed in all patients. Our data suggest that alpha interferon may be a new treatment option for osteopenia in systemic mastocytosis.
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PMID:Successful treatment of osteoporosis in systemic mastocytosis with interferon alpha-2b. 860 79

A 64-year-old man was diagnosed as having urticaria pigmentosa in 1998, and treated with PUVA therapy. In January 2002, X-ray imaging revealed osteosclerosis was detected in the systemic bone and bone scintigraphy. A bone marrow aspiration sample was not obtained due to a dry tap. CT scans showed hepatosplenomegaly and mesenteric lymphadenopathy. Myelofibrosis and diffuse mast cell infiltration were revealed by a bone marrow biopsy, and a diagnosis of systemic mastocytosis with severe osteosclerosis and myelofibrosis was made. In October 2003, he was admitted to our hospital because of mid back pain. A neurological examination showed muscle weakness in the upper and lower limbs, sensory disturbance below the level of Th4 and urinary obstruction. T1 and T2 weighted images of MRI demonstrated a high intensity epidural mass lesion extending from the vertebral level of C5 to Th2 and severely compressing the spinal cord. We considered the possibility of the invasion of the spinal canal by the mastocytosis. The patient was treated with interferon alpha-2b (IFN-alpha2b) and prednisolone. Subsequently, the motor and sensory disturbances were gradually alleviated, and spinal MRI confirmed a marked reduction in the size of the epidural tumor. However, the patient became resistant to interferon, and died of multiple organ failure in spite of steroid pulse and cladribine therapies. Multiple organ infiltration by mast cells was revealed at autopsy.
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PMID:[Case of intraspinal epidural tumor developing after systemic mastocytosis with marked osteosclerosis and myelofibrosis]. 1644 Jul 79

Patients with mastocytosis can display various disabling general and neuropsychological symptoms among one third of them, including general signs such as fatigue and musculoskeletal pain, which can have a major impact on quality of life. Neurological symptoms are less frequent and mainly consist of acute or chronic headache (35%), rarely syncopes (5%), acute onset back pain (4%), and in a few cases, clinical and radiological symptoms resembling or allowing the diagnosis of multiple sclerosis (1.3%). Headaches are associated with symptoms related to mast cell activation syndrome (flushes, prurit, and so forth) and more frequently present as migraine (37.5%), with often aura (66%). Depression-anxiety like symptoms can occur in 40% to 60% of the patients and cognitive impairment is not rare (38.6%). The pathophysiology of these symptoms could be linked to tissular mast cell infiltration or to mast cell mediators release or both. The tryptophan metabolism could be involved in mast cell-induced neuroinflammation through indoleamine-2,3-dioxygenase activation. Treatments targeting mast cell may be useful to target neuropsychological features associated with mastocytosis, including tyrosine kinase inhibitors.
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PMID:Mastocytosis in adulthood and neuropsychiatric disorders. 2706 57