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Abstract Number: 256

Characteristics of Pain in Fabry Disease

Olivier Lidove1, Esther Noel2, Eric Hachulla3, Francis Gaches4, Claire Douillard5, Bernadette Darne6, Kim Heang Ly7, Christian Lavigne8, Agathe Masseau9, Laurent Aaron10, Boris Bienvenu11, Thierry Zenone12, Philippe Vitielli6, Vanessa Leguy-Seguin13 and Jean Marc Ziza14, 1Médecine interne, Hôpital Croix-Saint-Simon, PARIS, France, 2CHU de Strasbourg - Hopital Civil, Strasbourg, France, 3Faculté de Médecine Henri Warembourg, Université Lille Nord de France, Lille, France, 4Hopital Joseph Ducuing, Toulouse, France, 5CHU Lille, Lille, France, 6Monitoring Force, Maisons-Laffitte, France, 7CHU Dupuytren, Limoges, Limoges, France, 8CHU d'Angers, Angers, France, 9Internal Medicine Department, Nantes University Hospital, Nantes, France, 10Internal Medicine, Hôpital Jacques Coeur, Bourges, Bourges, France, 11Médecine interne, CHU Côte de Nacre, CAEN, France, 12CH de Valence, Valence, France, 13CHU Dijon, Dijon, France, 14Hopital Croix-Saint-Simon, Paris Cedex 20, France

Meeting: 2014 ACR/ARHP Annual Meeting

Keywords: diagnosis, genetic disorders and pain

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Session Information

Session Title: Pain: Basic and Clinical Aspects

Session Type: Abstract Submissions (ACR)

Background/Purpose

Fabry disease (FD) is an X-linked disorder caused by a deficiency of lysosomal alpha-galactosidase A resulting in accumulation of glycosphingolipids. Clinical manifestations include a small-fiber neuropathy associated with debilitating pain. Because enzyme therapy (ERT) is available, early diagnosis in FD is crucial. The objective of this study is to characterize the pain in male (M) and female (F) FD patients.

Methods

An observational, non-interventional, retrospective, multicentre, national study was performed in France between January 2013 and April 2014. This study was approved by the ethics committee (CNIL approval: 1588616). All FD patients were eligible. FD was confirmed in all cases by enzyme alpha-galactosidase A activity and/or gene mutation analysis. Characteristics of pain were reported by the patient and by a referent physician in each case. The Neuropathic Pain Symptom Inventory (NPSI) was assessed at time of evaluation and at the moment in life when “pain was at its worst”.

Results

A total of 79 patients were analyzed, median age 43 + 14 yrs.

Table 1: Summary of results

 

Males

Females

p value

 

N (%)

33 (42)

46 (58)

 

 

Index case

21

7

 

 

Age at pain onset

10.9 + 8.3

19.3 + 15.4

 

 

Maximal intensity

Median 7

(quartiles 5,9)

Median 6

(quartiles 5,8)

NS

 

Frequency of crisis

> 10/year

54.5%

34.8%

NS

 

Associated symptoms:

(joint pain, fever, abdominal pain)

 

18, 16, 9

21, 15, 9

 

 

Aggravating factors (temperature change/humidity, effort/sport, infectious episodes)

22, 19, 20

33, 25, 20

 

 

Persistent burning pain

18

15

 

 

Pain at its worst

8.2 + 2.2

7.4 + 2.5

NS

 

 

Persistent burning pain

Median 3

(quartiles 0,5)

Median 5

(quartiles 2,6)

0.04

 

 

Persistent pain in adulthood

22

34

NS

 

 

Previous or current ERT

91%

50%

< 0.0001

 

 

Age at first infusion

31 + 11.1

42.1 + 15

< 0.01

 

 

Efficacy of carbamazepine (pain crisis)

21

10

 

 

 

Efficacy of physiotherapy (pain)

6

7

 

 

 

Depression

11

18

 

 

 

School attendance

66.7%

82.6%

< 0.01

 

 

Part-time work

3%

23.9%

< 0.01

 

 

Handicap expertise

51.5%

21.7%

< 0.01

 

 

Before diagnosis of FD, other causes of pain were considered (M: n=15; F: n=8): anxiety (n=25), growing pain (n=17), rheumatic fever (n=7), rheumatoid arthritis (n=1), Still disease (n=1). Raynaud’s phenomenon was present in 25 patients (30%). Only 18% of M and 15% of F had no pain according to the physician. The association of crisis and persistent pain was the most frequent phenotype (M: 51%, F: 43%). Pain crisis corresponded to burning sensation (M=F), tingling (M=F), electric discharge (M only). Pain crisis duration ranged from few minutes (one third) to few days (M: 18.2%, F: 11%). Other symptoms were more frequent in M than in F: sweating disorders (p=0.02), lymphedema (p=0.02), high creatinine level (p=0.04). Intra-familial other cases of pain in extremities were found with differences between genders: father’s pain only in F (p=0.002), children’s and cousin’s pain more frequently found in F (p=0.003 and p=0.002, respectively). NPSI questionnaire was performed in 75 cases. Agreement between patient and physician was good (kappa 0.73, CI95% 0.57-0.90). Patients with pain were treated with ERT in 69.4% of cases whereas patients without pain were treated with ERT in 61.5%. ERT was the most effective therapy on pain in only two males.  

Conclusion

Diagnosis and treatment of neuropathic pain are important in FD. Burning pain in the extremities, and frequent pain in relatives may be a tool for an early diagnosis. The higher frequency of chronic pain in females may imply clinical, psychological, and social components of pain. Treatment of pain in FD patients should not be limited to pharmacological therapies, but include personal and family management, to address psychosocial functioning.


Disclosure:

O. Lidove,
None;

E. Noel,
None;

E. Hachulla,
None;

F. Gaches,
None;

C. Douillard,
None;

B. Darne,
None;

K. H. Ly,
None;

C. Lavigne,
None;

A. Masseau,
None;

L. Aaron,
None;

B. Bienvenu,
None;

T. Zenone,

SHIRE,

6;

P. Vitielli,
None;

V. Leguy-Seguin,

SHIRE,

6,

Genzyme Corporation,

6;

J. M. Ziza,
None.

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