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Posted by on Jun 11, 2013 in Uncategorized |

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In 2008, a study was published by a leading French organisation for research on mastocytosis, ranking 38 common mastocytosis symptoms by their impact on quality of life and disability.

Study Design and Objectives

A case-control study (Case-Control Cohort Study of Patients’ Perceptions of Disability in Mastocytosis) was initiated in September 2004 by AFIRMM to examine patients’ disability due to mastocytosis. The objectives of the cohort study were to:

  • evaluate the patients’ perception of disability,
  • establish and validate a composite score for disability,
  • determine the most important symptoms causing the patients’ perception of disability, and
  • correlate disability with mastocytosis classification and presence of the D816V KIT mutation and an elevated level of serum tryptase.

How The Study Was Structured

During visits by mastocytosis patients to French hospitals between 1999 and 2004, it was noticed that they tend to suffer from a very wide variety of common symptoms and that they often feel disabled by these symptoms.

To gain a clearer picture of overall disability in mastocytosis and the type and severity of symptoms causing disability, researchers developed two questionnaires. The first was a questionnaire asking the patients about their overall perception of disability, and the second was a questionnaire asking the patients about their perception of the severity of 38 symptoms in 12 categories (skin, allergy/flush/shock, gastrointestinal tract, rheumatology, asthenia, neurology/psychiatry, respiratory, urology, infection, hemorrhoidal inflammation, libido, and sweat).

In September 2004, the questionnaires were sent to 703 adult mastocytosis patients. Responses to both questionnaires were obtained from 363 patients. The 363 patients included individuals with CM and both indolent and aggressive forms of SM, but none of the patients had mast cell leukemia

In addition, the questionnaires were administered to 90 control healthy subjects with no family members suffering from mastocytosis.

Study Conclusions

The mean scores and the standard measures of disability indicated that most mastocytosis patients suffer from disabilities due to the disease. Surprisingly, the patient’s measurable and perceived disabilities did not differ according to WHO disease classification or presence or absence of
the D816V KIT mutation or an elevated serum tryptase level. Also, 32 of the 38 symptoms were more common in patients than controls.

The conclusion reached was that mastocytosis patients suffer from more symptoms and greater disability than previously thought, that mastocytosis may therefore be under-diagnosed, and that the symptoms of the indolent forms of mastocytosis might be due more to systemic release of mediators than mast cell burden.

Patients feel disabled by their symptoms regardless of whether they have CM or SM, The overall extent of disability does not differ significantly between these two main types of mastocytosis, and the overall disability is unrelated to the presence of the presence of the D816V mutation or an elevated serum tryptase level.

Symptoms Severity Ranking  
Symptom Rank Controls Patients
Number Experience
Any
Disability
Severe or
Intolerable
Disability
Number Experience
Any
Disability
Severe or
Intolerable
Disability
Psychological  Impact  1    90 9 (10%) 1 (1%) 363 261 (72%) 120 (33%)
Asthenia  2    90  34 (38%) 3 (3%) 362  296 (82%) 102 (28%)
Pruritus  3    90  25 (28%) 3 (3%) 363  299 (82%) 82 (23%)
Food allergy/intolerance  4    90  9 (10%) 0 (0%) 363  222 (61%) 97 (27%)
Erythemateous crisis  5    90  17 (19%) 1 (1%) 363  293 (81%) 69 (19%)
Muscle and joint pain, cramps  6    90  36 (40%) 3 (3%) 363  276 (76%) 71 (20%)
Pollakiuria  7    90  58 (64%) 6 (7%) 362  263 (73%) 64 (18%)
Drug allergy  8    90  16 (18%) 0 (0%) 363  205 (56%) 70 (19%)
Aerophagia/eructation  9    90  43 (48%) 1 (1%) 363  229 (63%) 62 (17%)
Dyspnea/bronchoreactivity  10    90  15 (17%) 3 (3%) 362  154 (43%) 94 (26%)
Headache  11    90  34 (38%) 4 (4%) 362  250 (69%) 48 (13%)
Bone pain  12    90  16 (18%) 0 (0%) 363  196 (54%) 65 (18%)
Reduced sexual relations  13    90  11 (12%) 4 (4%) 362  132 (36%) 65 (18%)
Epigastric pain  14    90  35 (39%) 2 (2%) 362  249 (69%) 40 (11%)
Ocular discomfort  15    90  43 (48%) 1 (1%) 363  219 (60%) 55 (15%)
Memory loss  16    90  32 (36%) 0 (0%) 362  240 (66%) 34 (9%)
Tinnitus  17    90  29 (32%) 1 (1%) 363  166 (46%) 47 (13%)
Pseudo-occlusive syndrome  18    90  20 (22%) 0 (0%) 363  199 (55%) 36 (10%)
Infections (bronchitis, rhinitis)  19    90  25 (28%) 2 (2%) 363  182 (50%) 38 (10%)
Olfactive intolerance  20    90  33 (37%) 1 (1%) 363 188 (52%) 39 (11%)
Social Interaction  21    90  9 (10%) 0 (0%) 362 200 (55%) 26 (7%)
Depression  22    90  19 (21%) 0 (0%) 362 205 (57%) 22 (6%)
Mobility  23     90  6 (7%) 0 (0%) 363  153 (42%)  35 (10%)
Anaphylactic shock  24    90  12 (13%) 0 (0%) 363  160 (44%) 30 (8%)
Sweating  25    90  19 (21%) 2 (2%) 363  169 (47%)  30 (8%)
Stomatitis  26    90 28 (31%) 1 (1%) 363  145 (40%)  34 (9%)
Flush  27    90  9 (10%) 0 (0%) 363 190 (52%) 23 (6%)
Performance Status  28    90  11 (12%) 1 (1%) 362 187 (52%) 25 (7%)
Hemorrhoids  29    90  19 (21%) 1 (1%) 363 156 (43%) 23 (6%)
Cough  30    90  22 (24%) 0 (0%) 362 171 (47%) 9 (2%)
Ear/nose/throat inflammation  31    90  13 (14%) 0 (0%) 362 120 (33%) 20 (6%)
Erectile function/ability to make love  32    90  10 (11%) 2 (2%) 362 71 (20%) 34 (9%)
Nausea, vomiting  33    90  20 (22%) 0 (0%) 363 179 (49%) 12 (3%)
Diarrhea  34    90  6 (7%) 0 (0%) 363 127 (35%) 10 (3%)
Warts  35    90  14 (16%) 1 (1%) 363 82 (23%) 10 (3%)
Pain  36    90  4 (4%) 0 (0%) 362 71 (20%) 7 (2%)
Folliculitis  37    90  7 (8%) 1 (1%) 362 56 (15%) 6 (2%)
Dysuria 38    90 6 (7%) 0 (0%) 362 51 (14%) 3 (1%)