Systemic mastocytosis: clinical manifestations and differential diagnosis.

https://link.springer.com/content/pdf/10.1007%2F978-1-4899-3109-2_1.pdf

A catalogue of multiple congenital anomaly syndromes

Heparinotherapy and systemic mastocytosis are two unusual aetiologies of diffuse osteopenia, possibly linked by common pathophysiological factors. Osteoporosis related to heparinotherapy has only been observed in patients treated with doses higher than 10 000 units per day and for more than 4 months. Even in these, it is a rare disorder which has only been reported approximately 15 times in the world literature. Bone histomorphometry has demonstrated the occurrence of marked hyperresorption. In vitro, heparin appears to have resorptive and collagenolytic effects which could play a pathophysiological part in the disorder. Diagnosis of the osteopenic form of systemic mastocytosis may be difficult. Urticaria pigmentosa is a very important clue but may be misdiagnosed or even missing. Hepato or splenomegaly are inconstant. X-rays may show the coexistence of osteosclerotic lesions. Standard biochemical tests are of little help. The urinary excretions of the histamine metabolites methyl histamine and methyl imidazolacetic acid have been found increased when measured. Finally, the diagnosis is made by bone histology which must be performed without decalcification and read by a pathologist informed of the potential diagnosis. Toluidine blue stain shows that mastocytes are numerous in the bone marrow where they are grouped in foci. Histomorphometry demonstrates a high bone turnover with excessive resorption, which could be mediated by heparin or PG E 2 contained in mastocyte granules. Treatment is difficult and may involve cytostatic drugs and/or inhibitors of bone resorption: Clodronate has recently been reported to be at least transiently effective.

The osteoporosis of heparinotherapy and systemic mastocytosis.

These comprise polycythaemia vera (PV); idiopathic thrombocythaemia (IT); chronic myeloid leukaemia (CML) or chronic granulocytic leukaemia (CGL); myelofibrosis/osteomyelosclerosis (MF/OMS), as well as the variant, intermediate or transitional forms. It has now been established that they are clonal disorders of the bone marrow representing evolution from a single neoplastic cell but capable nevertheless of producing differentiated progeny for variable periods of time. Hence they comprise a spectrum of the more or less well-defined clinical entities listed above. But there are no unequivocal cytological characteristics which distinguish the cells in the CMPD for their normal counterparts in the bone marrow, at least not initially. The megakaryocytes constitute an exception: the giant forms, nuclear configurations, and clustering typical for the CMPD are not features of the reactive conditions1–7.

Chronic Myeloproliferative Disorders

Borg-Constanzi J M, Mohr P D & Lewis D (1981) Postgraduate Medical Journal 57, 228-231 Brown M M, Wade J P H & Marshall J (1985) Brain 108,81-94 Edwards P D, Prosser R & Wells C E C (1975) Journal of Neurology, Neurosurgery and Psychiatry 39, 729-739 Freidmann M, Mumenthaler M & Kummer H (1965) Deutsche Zeitschriftfir Nervenheilkunde 187, 585-594 Gautier-Smith P C & Prankerd T A J (1976) Acta Neurologica Scandinavica 43, 357-364 Harvier P, Lafitte A & Lavarenne G (1950) Paris Medical 139, 277-282 Naville F & Brutsh P (1919) Schweizer Archiv fur Neurologie und Psychiatrie 4, 88-103 Pettit J E, Lewis SM & Goolden A W E (1978) Scandinavian Journal ofHaematology 20, 63-69 Pettit J E, Lewis SM & Nicholas A W (1979) British Journal ofHaematology 43, 167-178 Reinhard E H, Moore C V, Bierbaum 0 S & Moore S (1946) Journal ofLaboratory and Clinical Medicine 3, 107-218 Thomas D J, Marshall L, Ross-Russell RW et at. (1977a) Lancet ii, 161-163 (1977b) Lancet ii, 941-943

F Wojnarowska

Papers

Osteoporosis and mastocytosis with late appearance of urticaria pigmentosa.