Table 1 Summary of demographic and clinical characteristics of patients with MKD

Study

International HIDS Database

Italy

International Eurofever Registry

Study design

Retrospective follow-up

Prospective follow-up

Retrospective follow-up

Study period

1994–2007

N/A

2009–2011^a

Length of follow-up, years

14

Long-term (not specified)

11.5

Number of patients

103 HIDS

56 MKD

114 MKD

Most common MVK mutation (allele frequency in patients)

p.Val377Ile (50 %)

p.Val377Ile (47 %)

p.Val377Ile (48 %)

2^nd most common MVK mutation (allele frequency in patients)

p.Ile268Thr (15 %)

N/A

p.Ile268Thr (13 %)

Age of patients, years, median or mean ± SD (range)

19 (2, 74)

13.3 ± 8.5 at follow-up

14^a (1, 60)^a

% of patients aged <18 years

N/A

N/A

63 %^a

Age at onset of symptoms, months, median or mean ± SD (range)

6 (0, 120)

10.5 ± 15.3 (1, 108)

6 (~0, ~72)^a

% of patients who had the first attack within the first year of life

78 %

N/A

71 %^b

% of patients who had the first attack before the age of 5 years

N/A

N/A

N/A

Age at diagnosis, years, median (range)

10 (<3 months, 52 years)

N/A

~8^a (~3 months, ~29 years)^a

Duration from onset to diagnosis, years, median (range)

9.9

N/A

2.5^a (0.1–8.3)^a

Disease duration, years, mean ± SD (range)

N/A

12.4 ± 8.7

13.1^b at enrollment

Sex, % of men

50 %

52 %

46 %

Ethnicity

N/A

N/A

Caucasian, 90 %

Positive family history, %

N/A

N/A

26 %^a

% of patients with >12 fever episodes/year

44 %, aged 0–10 year

24 %, aged 11–20 year

18 %, aged >20 year

N/A

N/A

Number of fever episodes per year, mean ± SD (min, max) or median

N/A

13.8 ± 5.4 (3, 30) at baseline

8.8 ± 6.7 at follow-up

12

Duration of fever episodes, days, mean (range) or median

N/A

N/A

5 (3 to 7 in 81 % of the patients)^b

Precipitating factors of fever episodes, %

N/A

 Vaccination

63 % for the 1st attack

36 %

 Infection

N/A

17 %

 Infection and/or vaccination

N/A

N/A

 Stress

Many cases (not specified)

24 %

Signs and symptoms during febrile attacks, %

Estimated %

Estimated %

N/A

Gastrointestinal/abdominal

Onset

Cumulative

 Abdominal pain

85 %

20 %

63 %

88 %

 Diarrhea

72 %

40 %

69 %

84 %

 Vomiting

71 %

11 %

45 %

69 %

 Hepatomegaly

22 %

25 %

37 %

N/A

 Serositis

19 %

N/A

N/A

N/A

 Pericarditis

N/A

0 %

4 %

N/A

Lymphoid tissue

 Lymphadenopathy

87 %

38 %

71 %

84 %^b

 Splenomegaly

32 %

32 %

63 %

N/A

Musculoskeletal

 Arthralgia

84 %

20 %

67 %

71 %

 Arthritis

55 %

6 %

43 %

28 %

 Myalgia

N/A

0 %

22 %

57 %

Cutaneous and mucocutaneous

 Skin lesions or maculopapular rash

69 %

43 %

67 %

39 %

 Aphthous ulcers or stomatitis

49 %

15 %

43 %

60 %

 Pharyngitis

N/A

N/A

N/A

28 %

General

 Cold chills

63 %

N/A

N/A

N/A

 Headache

63 %

0 %

12 %

38 %

 Malaise

N/A

N/A

N/A

65 %

 Weight loss

N/A

N/A

N/A

66 %

 Fatigue

N/A

N/A

N/A

63 %

 Mood disorders

N/A

N/A

N/A

24 %

 Thrombocytopenia

N/A

4 %

4 %

N/A

 Macrophage activation syndrome

N/A

0 %

6 %

1 %

Associated long-term conditions, %

N/A

 AA amyloidosis

3 %

5 %

 Abdominal adhesions

10 %

N/A

 Joint contractures

4 %

N/A

 Recurrent and/or severe infections

N/A

N/A

 Severe pneumococcal infections

1 %

N/A

 Hypogammaglobulinemia

N/A

N/A

 Renal angiomyolipoma

N/A

N/A

 Cerebellar syndrome

N/A

3 %

 Seizures

N/A

5 %

 Mental retardation

N/A

4 %

 Chronic neurologic, abdominal, renal, pulmonary, endocrine, cutaneous, ocular, or hematologic involvement, erosive polyarthritis, and/or Sjögren’s syndrome

N/A

N/A

Biomarkers, median (range), % of the patients above the upper limit of the [normal value]

N/A

 WBC count, x10⁹/L during fever episodes [4–8]

15, ↑ in 100 % of the patients

↑ in 66 % of tested patients

 CRP, mg/L during fever episodes [<5]

163 (36–404), ↑ in 100 % of the patients

↑ in 94 % of tested patients

 ESR mm/hour during fever episodes [<10]

76, ↑ in 100 % of the patients

↑ in 98 % of tested patients

 IgA, g/L [0.5–3.4]

4.1, 64 % of tested patients >2.6 g/L

N/A

 IgD, IU/mL [<100]

400 (<0.8-5300), ↑ in 78 % of the patients

↑ in 72 % of tested patients

 Urinary mevalonic acid, mmol/mol creatinine during fever episodes [<1]

N/A

↑ in 93 % of tested patients

Biomarkers, median (range), % of the patients below the limit of the [normal value]

 MVK activity, % of control cells [>25]

N/A

N/A

N/A