Cluster headache and Alpha 1-antitrypsin deficiency

Cephalalgia. 2010 Jan;30(1):113-7. doi: 10.1111/j.1468-2982.2009.01897.x.


Little is known about the pathophysiology of cluster headache (CH), one of the most debilitating primary headaches. Interestingly, associations of lung affecting diseases or lifestyle habits such as smoking and sleep apnoea syndrome and CH have been described. Certain genotypes for alpha 1-antitrypsin (alpha(1)-AT) are considered risk factors for emphysema. Our aim was to investigate possible associations between common genotypes of the SERPINA1 gene and CH. Our study included 55 CH patients and 55 controls. alpha(1)-AT levels in serum and the genotype were analysed. Patients CH characteristics were documented. We could not detect any association between CH and a genotype that does not match the homozygous wild type for alpha(1)-AT. Interestingly, there is a significant difference of CH attack frequency in patients who are heterozygous or homozygous M allele carriers. We conclude that the presence of an S or Z allele is associated with higher attack frequency in CH.

MeSH terms

  • Adult
  • Alleles
  • Cluster Headache / epidemiology*
  • Cluster Headache / genetics*
  • Female
  • Genetic Predisposition to Disease / epidemiology
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Prevalence
  • Risk Factors
  • alpha 1-Antitrypsin / genetics*
  • alpha 1-Antitrypsin Deficiency / epidemiology*
  • alpha 1-Antitrypsin Deficiency / genetics*


  • alpha 1-Antitrypsin