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Hemochromatosis and sexual dysfunction

Introduction

Hemochromatosis is the most common genetic autosomal recessive disorder among Caucasians. The prevalence of homozygocity is about 1 in 200–250 individuals. About one of eight individuals is heterozygous. It is assumed that half of the homozygous men and a quarter of the homozygous women have complaints and/or clinical signs of hemochromatosis. Recently, Beutler et al1 estimated that less than 1% of homozygotes develop frank clinical hemochromatosis. It is of course important to define what is meant by complaints and clinical signs: it makes a difference whether complaints solely are taken into account or whether also abnormal liver test results on routine examination are considered as features of iron overload.

The most common complaints and signs of the homozygous form of hemochromatosis are fatigue, arthralgia, abnormal liver test results, diabetes mellitus and disturbances of hormonal functions. Genetic hemochromatosis is considered responsible for sexual dysfunction in 10–40% of the homozygous men.1,2 From the history and examination of patients at our outpatients clinic, we have the impression that this problem is less frequent.

In order to investigate this, we did a survey with a questionnaire on several aspects of the sexual cycle in men. We approached the ‘Hemochromatose Vereniging Nederland’ (HVN), the Dutch Hemochromatosis Association, for cooperation in our study.

Patients and methods

Through the secretary of the HVN, all male members received a questionnaire together with a letter of recommendation from the commitee of the HVN and an explanatory letter from the authors.

The questions related to:

  •  age of the participant at the time of completing the questionnaire;

  •  age of the participant at the time of diagnosis of hemochromatosis;

  •  the type of hemochromatosis (genetically determined or not);

  •  complaints such as fatigue, arthralgia;

  •  signs such as abnormal liver test results;

  •  complications such as diabetes mellitus, fibrosis/cirrhosis of the liver;

  •  laboratory test results especially ferritine level at the time of diagnosis;

  •  sexual function, divided into the following aspects: libido (questions 16–19), erectile function (questions 20–23), orgasm (question 24) and ejaculation (question 25) (the questionnaire is attached as Appendix A).

For the questions 16–23, the answers were scored from 0 to 4, a score of 3 or 4 was considered normal; a score of 2 was considered decreased and a score of 0 or 1 was considered absent. The answer to questions 24 and 25 was scored 0 or 1, a score of 1 was considered normal, a score of 0 was considered absent.

It was not possible to perform a study in a control population. However, recently two community-based surveys, performed in the Netherlands, have been published, addressing the question of prevalence of erectile and ejaculatory dysfunction.3,4 The questions and format of these investigations are not identical to our study, but the ideas were comparable.

Prevalences were compared using the χ2 test or, if appropriate, the Fisher-exact test.

Results

A total of 137 questionnaires were sent, 100 of which were returned, giving a response of 73%. After reviewing the answers, the diagnosis of genetic hemochromatosis could be established in 69 men. The answers to the questions on complaints, signs, etc. are detailed in Table 1. The answers to the questions on the sexual cycle are elaborated in Table 2.

Table 1 Results of the questions relating to age, ferritin levels, signs and symptoms. (N=69
Table 2 Sexual functions in male members of the HVN divided into four aspects of the sexual cycle

The populations of the two studies of sexual function in Dutch men3,4 serve as reference groups.

Table 3 shows the comparison of the outcomes of these studies with the group of male hemochromatosis patients.

Table 3 Comparison of the results with regard to erectile dysfunction, subdivided into age groups, o the HVN study and the Dutch studies3,4

Discussion

A response of 73% to a postal questionnaire on several aspects of sexual function can be considered to be good.

McDonnell et al5 published in 1999 the results of an investigation among 2851 patients with hemochromatosis, carried out in the USA, Australia, Great Britain and Canada. In comparison with this study, the age at the time of diagnosis in ours is 2 y less.

Diabetes mellitus is reported in 10% in the group of the HVN, comparable with the results of McDonnell et al. The prevalences of fatigue, arthralgia and abnormal liver test results were higher in our group (85.5 vs 36.1%; 78.3 vs 24.4% and 46.6 vs 16.8%). Beutler et al1 did not find a significant difference in prevalence of these disorders and complaints between homozygotes for the hemochromatosis gene and the normal population.

Men with hemochromatosis participating in our study did not report a higher incidence of sexual dysfunction than in the international investigation, where the percentage of patients with impotence or loss of libido was 25.8. (Also in the study of Beutler et al,1 the percentage of homozygotes with impotence was 26.8.)

The question is whether or not the outcomes of both studies can be compared. The international investigation was carried out in the USA, Australia, Great Britain and Canada. Apparently, a substantial part of this population were presymptomatic. In all, 40% of the participants had reported that they were diagnosed on laboratory test abnormalities. In 20%, hemochromatosis had been diagnosed in family screening. Our patients are all members of the HVN, and it is possible that those patients having more features of a specific disease join a patients association.

It is important to realise that our data are based on answers of about half of the total number of men who have been approached with our questionnaire, 31 men were excluded as they did not appear to have the homozygous form of genetic hemochromatosis. No conclusions can be drawn regarding the 27% of men who did not respond. If this group contained a larger percentage of men with sexual dysfunction, then we would be underestimating the number of men with genetic hemochromatosis who experience sexual dysfunction. This problem is inherent to postal questionnaires and always a source of uncertainty. Strictly speaking, our results are only valid for men with genetic hemochromatosis, members of the HVN, who have responded.

Conclusion

The results of this questionnaire on sexual function of men with genetic hemochromatosis, members of the HVN, do not indicate an increase of dysfunction in comparison with a control group.

This is in concordance with the studies of McDonnell et al and of Beutler et al.

References

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Correspondence to C Van deursen.

Appendix A: Questions for men with hemochromatosis

Appendix A: Questions for men with hemochromatosis

See Table 4

Table 4

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Van deursen, C., Delaere, K. & Tenkate, J. Hemochromatosis and sexual dysfunction. Int J Impot Res 15, 430–432 (2003). https://doi.org/10.1038/sj.ijir.3901019

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