Bone mineral density, bone turnover markers and fractures in patients with indolent systemic mastocytosis
Maurizio Rossinia, b, low asterisk, E-mail The Corresponding Author, Roberta Zanottib, c, Patrizia Bonadonnab, d, Anna Artusob, c, Beatrice Carusob, e, Donatella Schenab, f, Decio Vecchiatoa, b, Massimiliano Bonifaciob, c, Ombretta Viapianaa, b, Davide Gattia, b, Gianenrico Sennab, d, Annamaria Ricciog, Giovanni Passalacquag, Giovanni Pizzolob, c and Silvano Adamia, b
a Rheumatology Section, Department of Medicine, University of Verona, Italy
b Multidisciplinary Mastocytosis Outpatient Clinic, Azienda Ospedaliera Universitaria Integrata of Verona, Italy
c Hematology Section, Department of Medicine, University of Verona, Italy
d Allergy Unit, Azienda Ospedaliera Universitaria Integrata, Verona, Italy
e Clinical Chemistry and Haematology, Azienda Ospedaliera Universitaria Integrata, Verona, Italy
f Dermatology Section, Department of Medicine, University of Verona, Italy
g Allergy and Respiratory Diseases, DIMI, University of Genoa, Italy
Received 3 May 2011; revised 3 June 2011; accepted 3 July 2011, Available online 14 July 2011.
We systematically assessed bone mineral density (BMD), bone turnover markers (BTM), and fractures in a large cohort of patients with Indolent Systemic Mastocytosis (ISM).
Eighty-two patients (mean age 48 years, 37 women) with ISM were studied. BMD was measured by dual X-ray absorptiometry at the lumbar spine and proximal hip. The serum markers of bone turnover included bone-specific alkaline phosphatase, C-telopeptides of type I collagen, and serum osteocalcin. Previous clinical fractures were registered and spine X-ray was obtained from all patients.
Three women were excluded for concomitant diseases associated to osteoporosis. Osteoporosis according with the WHO classification (T-score < ? 2.5) was found in 16 patients (20.0%) (7 females and 9 men). Mastocytosis-related low BMD (Z-score at either the spine or the hip < ? 2) was found in 3 women (9%) and 13 men (28%). The BMD was generally lower at the spine than at the hip. No significant correlation was observed between serum tryptase levels and T or Z-score BMD. One or more moderate or severe vertebral fractures were found in 17 patients (12 men); in 11 of them Z-score values were > ? 2 or not valuable at the spine. No significant difference was found in the prevalence of mastocytosis-related low BMD and/or vertebral fractures between patients with or without skin involvement. Two patients had radiographic and densitometric osteosclerosis-like characteristics. In osteoporotic patients higher, normal or lower serum BTM were found, without correlations with serum tryptase levels, while in patients with osteosclerosis both BTM and serum tryptase values were particularly increased.
Vertebral osteoporosis and fractures are frequent in patients with ISM. Spine X-ray and densitometric examination are warranted in all patients, also without skin involvement and particularly in males; Z-score other than T-score BMD must be evaluated. Patients with idiopathic osteoporosis should be evaluated for mast cell disease. Both high than low BTM can be observed in patients with osteoporosis while osteosclerosis is characterized by high bone turnover and serum tryptase levels.
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Systemic mastocytosis is an uncommon condition involving a certain type of body cell known as a mast cell.
Mast cells are found in the connective tissue that surrounds and supports the more ordered tissues and organs of the body.
Cartilage, bone and blood are specialised examples of connective tissue.
Mast cells mediate the skin's response to mild mechanical injury, producing immediate reddening of the skin due to the release of a chemical called histamine from granules within the cell.
An over production of mast cells can occur at any age and is seen slightly more often in males.
The exact prevalence of systemic mastocytosis is not known and there has been no link made to it being a familial condition.
Systemic mastocytosis is classified into four forms:
- The majority of patients have what is referred to as an 'Indolent' form that is not known to alter life expectancy and the associated clinical findings define their treatment and management.
- If the blood system is involved ('associated haematologic disorder'), then the nature of the blood disorder dictates the treatment required and the prognosis which can vary widely.
- In 'Aggressive Systemic mastocytosis' the liver, spleen and lymphatic system are involved and the prognosis is poor.
- 'Mast cell Leukemia' is the rarest form of the disease and is invariably fatal.
The clinical symptoms a patient experiences when suffering from the condition are due to the mass of mast cells present in the tissue concerned and include recurrent headaches, itching, flushing, palpitations and fainting, gastric ulcer disease and lower abdominal crampy pain.
These systemic changes contribute to bone pain and malabsorption and produce small, reddish brown macules or papules, termed urticaria pigmentosa within the skin which are present in 90 per cent or more patients with indolent systemic mastocytosis.
The diagnosis is suspected first on the clinical history and physical findings. A 24-hour urine collection for measurement of histamine and other metabolites, blood levels of histamine or the mast cell-derived neutral protease tryptase assist in confirming things.
Additional investigations may be required depending on the clinical symptoms.
Obviously a tissue diagnosis is easy if the skin lesions are present, but to confirm a diagnosis of the systemic involvement of other organs a bone marrow biopsy and aspiration is often performed.
Yours sincerely, The NetDoctor Medical Team
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- More detailed description at Mastocytosis Society
- A blog
- Mastocytosis Society – US
- Mastocytosis Society – Canada
- June 15, 2010 Common Gene Variants Appear to Increase Risk of Vitamin D Deficiency
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See also VitaminDWiki
- Rare diseases hit fewer than 1 in 1500 people, but 1 in 12 people have a rare disease (vitamin might D help)
Comment at VitaminDWiki
This orphan disease appears to have no known cause or treatment.
Wonder if Mastocytosis might have some relationship to vitamin D deficiency