Clinical features and family history in obsessive-compulsive outpatients

Abstracts

INTRODUCTION: The occurrence of obsessive-compulsive disorder (OCD) in families suggests the existence of clinical differences between patients with (FH+) and without (FH-) a family history of OCD. This study aims at assessing the association between family history of OCD and some clinical features. MATERIAL AND METHODS: 111 patients were retrospectively studied (review of medical records) at the outpatient clinic at Hospital Materno-Infantil Presidente Vargas, in Porto Alegre, Brazil, between July 1994 and July 2002. RESULTS: Mean age at onset of symptoms was lower in the FH+ group (17.8 years ± 8.69 vs. 20.8 years ± 9.65; p = 0.000963). The severity of obsessive-compulsive symptoms (YBOCS) was higher in the FH+ group (22.5 ± 4.16 vs. 17.93 ± 9.95; p < 0.001). Hoarding was also more frequently found in the FH+ group: four of 15 patients (26.6%) vs. three of 69 patients (4.3%); p = 0.029. We found no significant difference in the variety of drugs used in the treatment of the two groups, as well as in the frequency of application of the cognitive-behavioral therapy. Eight of 15 patients (53.3%) with a family history and 13 of 69 patients (18.8%) without a family history of OCD had to complement the psychopharmacological therapy (p = 0.022). CONCLUSION: In our study, OCD patients with a positive family history of the disease showed earlier onset of symptoms, more severe symptoms according to YBOCS and the need for a more complex treatment scheme. Hoarding was also more frequent in this group. Prospective studies, with information collected directly from patients and their families, as well as the inclusion of randomized control groups, are necessary to further confirm these results.

Obsessive-compulsive disorder; family history; hoarding

INTRODUÇÃO: A ocorrência familiar do transtorno obsessivo-compulsivo permite-nos especular sobre diferenças clínicas entre indivíduos com história familiar de TOC (HF+) e sem história familiar de TOC (HF-). Este estudo investigou a associação entre história familiar de TOC e algumas características clínicas. MATERIAL E MÉTODOS: Foram estudados retrospectivamente 111 pacientes através de revisão de prontuários de atendimento no Hospital Materno-Infantil Presidente Vargas de Porto Alegre, no período de julho de 1994 até julho de 2002. RESULTADOS: A idade média de início dos sintomas foi menor no grupo HF+ (17,8 anos ± 8,69 versus 20,8 anos ± 9,65; p = 0,000963). A intensidade dos sintomas obsessivo-compulsivos medidos pela YBOCS foi mais grave no grupo HF+ (22,5 ± 4,16 versus 17,93 ± 9,95; p < 0,001). Encontrou-se uma incidência maior de colecionismo no grupo HF+: quatro de 15 pacientes (26,6%) versus três de 69 pacientes (4,3%); p = 0,029. Não houve diferença relevante na variedade de fármacos utilizados no tratamento dos grupos estudados, bem como na freqüência da aplicação da terapia cognitivo-comportamental. Oito de 15 pacientes (53,3%) com história familiar e 13 de 69 pacientes (18,8%) sem história familiar necessitaram de terapia complementar à farmacológica (p = 0,022). CONCLUSÃO: Em resumo, os pacientes portadores de TOC com história familiar positiva para o mesmo, em nosso estudo, mostraram início dos sintomas mais precoce, maior gravidade dos sintomas medidos pela YBOCS e maior complexidade terapêutica, além de presença mais freqüente de colecionismo. Estudos prospectivos, com informações colhidas diretamente dos pacientes e dos familiares, além da inclusão de grupos-controle randomizados, poderão evidenciar adequadamente esses resultados.

Transtorno obsessivo-compulsivo; história familiar; colecionismo

ORIGINAL ARTICLE

Clinical features and family history in obsessive-compulsive outpatients

Características clínicas e historia familiar en pacientes ambulatoriales con trastorno obsesivo-compulsivo

Ygor Arzeno Ferrão^I; Paulo Rogério Dalla Colletta de Aguiar^II; Luciano Minuzzi^III; Rodrigo Grillo^IV; Renan Lopes^II; Rafael Rosa^V

^IPsychiatrist, Outpatient Clinic for the Treatment of Obsessive-Compulsive Disorders, Hospital Materno-Infantil Presidente Vargas, Porto Alegre, Brazil. Doctor's degree in Psychiatry, Universidade de São Paulo, Brazil

^IIMedical students, Fundação Faculdade Federal de Ciências Médicas de Porto Alegre, Brazil

^IIIPsychiatrist, Universidade de Arhus, Denmark

^IVPsychiatrist, Outpatient Clinic for the Treatment of Obsessive-Compulsive Disorders, Hospital Materno-Infantil Presidente Vargas, Porto Alegre, Brazil

^VResident in Genetics, Fundação Faculdade Federal de Ciências Médicas de Porto Alegre, Brazil

^{Correspondence}

ABSTRACT

INTRODUCTION: The occurrence of obsessive-compulsive disorder (OCD) in families suggests the existence of clinical differences between patients with (FH+) and without (FH-) a family history of OCD. This study aims at assessing the association between family history of OCD and some clinical features.

MATERIAL AND METHODS: 111 patients were retrospectively studied (review of medical records) at the outpatient clinic at Hospital Materno-Infantil Presidente Vargas, in Porto Alegre, Brazil, between July 1994 and July 2002.

RESULTS: Mean age at onset of symptoms was lower in the FH+ group (17.8 years ± 8.69 vs. 20.8 years ± 9.65; p = 0.000963). The severity of obsessive-compulsive symptoms (YBOCS) was higher in the FH+ group (22.5 ± 4.16 vs. 17.93 ± 9.95; p < 0.001). Hoarding was also more frequently found in the FH+ group: 4 of 15 patients (26.6%) vs. 3 of 69 patients (4.3%); p = 0.029. We found no significant difference in the variety of drugs used in the treatment of the two groups, as well as in the frequency of application of the cognitive-behavioral therapy. Eight of 15 patients (53.3%) with a family history and 13 of 69 patients (18.8%) without a family history of OCD had to complement the psychopharmacological therapy (p = 0.022).

CONCLUSION: In our study, OCD patients with a positive family history of the disease showed earlier onset of symptoms, more severe symptoms according to YBOCS and the need for a more complex treatment scheme. Hoarding was also more frequent in this group. Prospective studies, with information collected directly from patients and their families, as well as the inclusion of randomized control groups, are necessary to further confirm these results.

Keywords: Obsessive-compulsive disorder, family history, hoarding.

RESUMEN

INTRODUCCÍON: La ocurrencia familiar del trastorno obsesivo-compulsivo nos permite conjeturar sobre diferencias clínicas entre individuos con historia familiar de TOC (HF+) y sin historia familiar de TOC (HF-). Este estudio investigó la asociación entre historia familiar de TOC y algunas características clínicas.

MATERIAL Y MÉTODOS: Se estudió retrospectivamente a 111 pacientes a través de revisión de prontuarios de atención en el Hospital Materno-Infantil Presidente Vargas, de Porto Alegre, en el periodo de julio de 1994 hasta julio de 2002.

RESULTADOS: La edad media de inicio de los síntomas fue menor en el grupo HF+ (17,8 años ± 8,69 versus 20,8 años ± 9,65; p = 0,000963). La intensidad de los síntomas obsesivo-compulsivos medidos por Y-BOCS fue más grave en el grupo HF+ (22,5 ± 4,16 versus 17,93 ± 9,95; p<0,001). Hubo una incidencia mayor de coleccionismo en el grupo HF+: 4 de 15 pacientes (26.6%) versus 3 de 69 pacientes (4,3%); p = 0,029. No hubo diferencia relevante en la variedad de fármacos utilizados en el tratamiento de los grupos estudiados, así como en la frecuencia de la aplicación de la terapia cognitivo-comportamental. Ocho de 15 pacientes (53,3%) con historia familiar y 13 de 69 pacientes (18,8%) sin historia familiar necesitaron de terapia complementar a la farmacológica (p = 0,022).

CONCLUSIÓN: En resumen, los pacientes portadores de TOC con historia familiar positiva para el mismo, en nuestro estudio, mostraron inicio más precoz de los síntomas, mayor gravedad de los síntomas medidos por Y-BOCS y mayor complejidad terapéutica, además de la presencia más frecuente de coleccionismo. Estudios prospectivos, con informaciones recogidas directamente de los pacientes y de los familiares, además de la inclusión de grupos de control randomizados, podrán evidenciar adecuadamente esos resultados.

Palabras clave: Trastorno obsesivo compulsivo, historia familiar, coleccionismo.

INTRODUCTION

After years of genetical studies of the principal psychiatric syndromes, with varying foci and objectives, no doubts remain about the family-based aggregation of mental disorders, particularly obsessive-compulsive disorder (OCD). The first studies to focus on the etiology of OCD, and even those in which the first nosological descriptions were presented, were already reporting on the family-based distribution of the disease.¹ Recent studies, with stricter criteria, in which researchers used structured diagnostic interviews of probands and controls, confirmed the family component of OCD.²

Studies of twins indicate that OCD agreement between homozygous twins varies from 53 to 87%, while between heterozygous, the variation is from 22 to 47%.³ The data obtained from studies using this methodology to support the hypothesis that heredity is connected with the etiology of OCD. In a study of 107 families of OCD patients it was suggested that the genetic transmission model compatible with the findings was autosomal dominance, with greater penetration among women,⁴ although Nicolini et al., in a study of 24 families with OCD patients, concluded that it was not possible to rule out a recessive autosomal pattern.⁵ Despite the hypothesis of greater genetic penetration in women, what epidemiological studies find evidence for, to date, is an equal gender prevalence.

Certain segregation studies, such as that undertaken by Alsobrook et al., concluded that in families with patients scoring high for symptoms of symmetry and ordering there is probably a gene involved with a greater effect.⁶ Currently there is speculation that functional genetic polymorphism — such as dysfunction of the enzyme alleles catechol-O-methyltransferase (COMT) and monoaminoxydase-A (MAO-A), in addition to abnormalities in genes for the serotonergic and dopaminergic systems- may be linked with the pathogenesis of this disease.⁷

Recent studies evaluating the presence or absence of a family history component to OCD have been motivated by a variety of clinical peculiarities such as age at onset of symptoms, the course of the disease and also the content, frequency and severity of obsessive and compulsive symptoms. These studies attempt to describe subtypes of OCD with their respective risk factors for adequate or inadequate response to conventional treatments.⁸

Despite the complexity of the genetics of OCD and the doubts that remain about its pattern of transmission, the finding that the disorder occurs along family lines permits us to speculate on clinical differences between individuals with and without a family history of OCD and on the response to exiting therapies. With the objective of studying the association of clinical characteristics with the presence or absence of a family history of OCD, a review was made of the patients attended in outpatients at the Presidente Vargas Hospital in Porto Alegre (RS).

MATERIALS AND METHODS

One hundred and eleven of the 122 registered patients at the Clinic for the Obsessive-Compulsive Disorder Spectrum at the Presidente Vargas Hospital, by means of the medical records of their first consultation and outpatients follow-up, in the period between July 1994 and July 2002. The inclusion criteria was a diagnosis of OCD according to the International Classification of Diseases (ICD-10). Therefore 11 patients were excluded from the study as presenting other diagnoses (three presented pathological gambling and eight trichotillomania and/or skin picking without comorbidity with OCD). Statistical calculations were performed with an error of 5%, using the Yates' corrected chi-square test of significance for a 95% confidence interval and analysis of variance, using SPSS 10.0 software.

The instrument used for data collection covered questions such as: date of birth, current age of the patient, gender, ethnic origin, age at onset of symptoms, age at the start of OCD treatment, patient's family history, symptoms checklist from the Yale-Brown Obsessive Compulsive Scale (YBOCS), YBOCS scores, list of psychopharmaceuticals and dosages employed, psychotherapy techniques used, need for and number of hospital admissions due to OCD and Axis IV diagnoses (social risk factors). Family history was ascertained by means of a semi-structured interview with the patient and, when possible with a family member.

RESULTS

Information was obtained from 84 patients with respect of age and onset of symptoms, with 15 (17.8%) presenting a family history of OCD (FH+) and 69 (82.2%) not presenting a family history of OCD (HF-). The mean age at onset of symptoms for the FH+ group was lower at 17.8 years (SD = 8.69), than for the HF- group, the mean for which was 20.8 years (SD = 9.65), statistically significant difference (p =< 0.001). Eighty-seven patients were evaluated with respect of age at start of OCD treatment, with 15 (17.2%) having a family history of OCD and 72 (82.8%) without such a history. Mean age at start of OCD treatment for the FH+ group was 28.6 years (SD = 12), which mean was statistically lower than for the HF- group, for which it was 30.6 years (SD = 11.6) (p=0.046). The FH+ group delayed for a mean period of 11.36 years (SD = 11.5) before seeking professional help for the disease, while the HF- group took a mean of 9.54 years (SD = 11), with p = 0.067.

The patients on the study were assessed for the frequency of different types of OCD obsessions. The groups exhibited no significant differences with respect of any type of obsession within the sample.

Both of the groups were also evaluated with respect of the frequency of different types of compulsions. A greater frequency of hoarding was found for the FH+ group: 4 of the 15 patients (26.6%) in the FH+ group and 3 out of 69 patients (4.3%) in the HF- group, a statistically significant difference (p = 0.029).

There was no relevant difference in the pharmaceuticals employed to treat the groups under study, nor in terms of the frequency of the use of cognitive-behavioral therapy.

The comparison of symptom intensity between the two groups, assessed via the YBOCS scale, is shown in Table 1.

The groups were compared according to the need for other treatments in addition to psychopharmacotherapy for management and control of OCD symptomology. There was a significant difference between the two groups, with 8 of the 15 patients (53.3%) who had a family history and 13 of the 69 patients (18.8%) who did not, requiring other kinds of therapy to complement the pharmacological component (cognitive-behavioral therapy, group therapy, other psychotherapies, relaxation techniques, etc.) (p = 0.022).

There was a statistical tendency for the number of patients requiring hospital admission to be higher for FH+ group: 10 of the 17 patients (58.8%) were admitted at some time during their treatment, in comparison with 26 out of 75 (34.6%) in the HF- group (p = 0.065). There was no statistical difference between the groups with respect of the mean number of admissions.

No relevant differences were found with respect of Axis IV diagnoses (social factors and triggering stress factors) between the two study groups.

DISCUSSION

As this is an observational study with the limitations of retrospective methodology via medical record analysis, such as the number of losses for each variable and the reliability of information, and the fact that the patients were referred to a tertiary OCD service, which may have influenced certain results, the possibility that there may be certain errors in terms of generalization of the findings should be kept in mind. Nonetheless, the methodological limitations do not impede us from observing interesting aspects concerning the occurrence of family history in OCD patients.

Our sample showed that 17.8% of the patients with OCD had a positive family history for the disorder, which is relatively in agreement with estimates in the literature as shown by the studies mentioned below.

In the first study undertaken of the family members of patients with OCD in Latin America, Nicolini et al. investigated 268 first degree and 187 second degree relatives of 27 probands with OCD. Thirty percent of those patients presented a family history that was positive for OCD. Among the first degree relatives, the frequency of OCD was 4.85%, and among the second degree relatives it was 2.13%. As in our sample, those probands with FH+ in the study by Nicolini et al. also presented a lower age at onset of symptoms than those probands with FH- for OCD.⁹

Pauls et al. used structured psychiatric interviews to study the first degree relatives of 100 probands with OCD (n = 466) and 133 first degree relatives (controls) of 33 healthy individuals. They observed 10.9% of OCD and 7.9% of subclinical OCD among the first degree relatives of the probands. For the relatives of the controls the rates were 1.9% of OCD and 2.0% of subclinical OCD.¹⁰

In our study, patients with OCD FH+ presented onset of their symptoms at an earlier age, but took an average of 2 years more than patients with FH- to seek medical help. From this it can be inferred that the group with a positive genetic loading presented a greater predisposition towards developing OCD, as long as environmental factors were not capable of inhibiting this manifestation.

In addition to manifesting earlier among patients with FH+, symptoms also tended to be more intense, as becomes obvious in our sample from the higher scores on the YBOCS scale, from the requirement for a greater variety of therapeutic methods and from the greater need for hospital admissions. This clear difference between the study groups may indicate that a family history of OCD is a risk factor for greater case severity or complexity.

More recently, Gonzáles corroborated these findings comparing a sample consisting of 173 first degree relatives of patients with OCD diagnoses, including children aged 6 years or over, with 348 first degree relatives of 42 patients of a otorhinolaryngology clinic, concluding, among other things, that : 1) OCD and obsessive-compulsive symptoms are symptoms that aggregate within families ; 2) tic disorders, corporal dysmorphic disorder and periodic compulsive eating disorders are more prevalent among the relatives of patients with OCD than among controls and appear to be a part of the family OCD spectrum; 3) relatives of early-onset OCD patients present a greater risk of developing OCD, obsessive-compulsive symptoms, tic disorders and the sum of the disorders under study than relatives of late-onset OCD patients.¹¹

The authors suggested that the greater delay before seeking treatment among FH+ families may be due to the phenomenon of family accommodation, defined as the family's participation in the behavior associated with the patient's rituals and modification of the family's daily routines. Family accommodation consisted of aspects such as: family members' participation in the obsessive-compulsive symptoms; modification to family functioning (habits, leisure, work, etc.) as a direct consequence of the symptoms; emotional and psychic wear caused by the patients' symptoms; and consequences of family members' non-participation in the symptoms.¹² Among families with positive histories, learning, from previous experience, family accommodation may result in the members of the family tolerating obsessive-compulsive symptoms. It is of interest to restate that, in the presence of clinical conditions (systemic arterial hypertension, diabetes mellitus), family accommodation is less likely to occur, making us believe that psychiatric disorders (including OCD) could be more prone to this phenomenon.

The literature suggests that hoarding may indicate a specific subtype of OCD, which is in agreement with the results of our sample.^13,14 Moreno et al. relate, for example, that hoarding is a risk factor for poor prognosis.¹⁵ In fact, there are few studies with adequate methodology and sample sizes to prove the association between hoarding and genetic OCD inheritance.

FINAL CONSIDERATIONS

Summing up, in our study patients suffering from OCD with FH+ exhibited an earlier age of onset of symptoms and took longer to seek suitable help. In addition to this, they showed evidence of greater symptom severity as measured by the YBOCS and greater therapeutic complexity. This, associated with the fact that there was no statistical significance when social stress factors were compared (Axis IV), reinforces the findings in published literature that OCD has biological components to its pathogenesis, or that at least one subtype of OCD appears to have a more obvious biological influence. While this does occur, environmental influences gain force with respect of maintenance of the symptoms, while the FH+ subset takes longer to seek suitable treatment, which leads to a hypothesis that the role of family accommodation is an aggravating factor. Initiatives such as including patients and family members in OCD instruction and education are indispensable to helping in patient treatment.

Defining OCD subtypes based on the varying content of the obsessions and compulsions is one challenge that yet remains in order to promote revelations of aspects important to the understanding of the disease and therapeutic planning. An attempt in this direction is being undertaken at the University of Yale, in collaboration with the Universdade de São Paulo, who are creating a new YBOCS scale based on symptom subgroups found in a study by Leckman et al.¹⁶

Taking all this together, even with the limitations of the study (small number of patients, retrospective method using medical record data, significant losses of information), we can conclude, that for OCD patients, a family history of OCD could be a risk factor for greater symptom severity and complexity. Prospective studies using information on family OCD history and psychiatric disorders collected directly from the patients and their family members, in addition to interviewers blind to the condition, may find more adequate evidence for these results.

REFERENCES

Received on September 14, 2004.

Revised on October 5, 2004.

Approved on December 7, 2004.

This study was carried out at the Psychiatric Outpatient Service at Hospital Materno-Infantil Presidente Vargas, Porto Alegre, Brazil, and presents partial data of a research project developed by the first author.

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Publication Dates

• Publication in this collection
  14 Sept 2005
• Date of issue
  Dec 2004

History

• Accepted
  07 Dec 2004
• Reviewed
  05 Oct 2004
• Received
  14 Sept 2004