Familial implications of autoimmune disease: Recurrence risks of alopecia areata and associated conditions in first‐degree relatives

Abstract

Alopecia areata (AA), a complex autoimmune hair loss condition, affects approximately 2.1% of the population. Individuals with AA have increased susceptibility to diseases such as atopy and autoimmune disorders, but little is known about first‐degree relatives' risk to develop AA and associated conditions. Genetic counseling for multifactorial conditions, including autoimmune disease is complex, but potentially valuable. Anecdotally we know patients with AA ask medical providers about recurrence risk for family members as well as question whether they and their relatives are at risk for other conditions. Data on AA recurrence risks and comorbid conditions among relatives of affected individuals comprise valuable information that may guide clinical management by genetic counselors. This study investigated the recurrence risk of AA and compared the prevalence of associated conditions among first‐degree relatives to the general population. The study also assessed the validity of self‐reported conditions for a subset of participants. Relatives of individuals with AA (N = 155), recruited from the National Alopecia Areata Foundation Registry, completed telephone surveys about their personal medical history for 70 medical conditions associated with AA. Medical records for 60 participants were compared to self‐reported responses. One‐sided proportional tests, in which it is assumed the disease prevalence in first‐degree relatives is higher than for those in the general population, yielded a 7.8% estimated risk of AA versus the general population prevalence of 2.1%. Furthermore, there are increased risks of 33 associated conditions, including atopy and other autoimmune conditions. Comparison of medical reports to self‐reported conditions indicated only 12% was incongruent. The findings may help genetic counselors better serve patients and their families by informing them of lifetime risk estimates of developing AA and comorbid conditions, resulting in early diagnosis of autoimmune diseases in AA families. Findings also provide evidence supporting the validity of self‐report data in AA families.

Genetic predisposition of alopecia areata in jordanians: A case-control study

“…AA is known as one of the most common autoimmune hair disorders of multifactorial basis with strong genetic predisposition and a varied spectrum of clinical manifestations ( Rajabi et al., 2018 ; Agre et al., 2020 ; Simakou et al., 2019 ). Nail changes are among the most frequently AA-associated manifestations that occur in up to 66% of patients, in particular, pitting and trachyonychia (sandpaper nails) ( Perera et al., 2015 ; Chelidze and Lipner, 2018 ).…”

Differential impact of environmental factors on systemic and localized autoimmunity

“…In an effort to identify effective means to prevent onset of disease or delay progression, a great deal of effort is focusing on the identification of genetic, immune and environmental profiles that may enhance the risk of an individual to develop autoimmune conditions. To efficiently accomplish this goal, the ideal cohort represents first degree family members of patients with MS, SLE or AA considering the genetic pre-disposition they have at least 30 times greater chances than sporadic cases to develop the disease ( 339 – 341 ). Our group deployed a large cohort of first-degree family members of patients with MS (the genes and environment in MS (GEMS) cohort, n=2,632 participants) ( 342 , 343 ) to establish a tool that successfully predicts an MS risk score based on a mathematical model that accounts for the most robust environmental and genetic factors known so far (sex, BMI, smoking status, mononucleosis infection status, and HLA SNP allele) ( 342 , 344 ).…”

Evaluating the Effect of the Demographic, Trichoscopic and Laboratory Characteristics on The Recurrence of Alopecia Areata

“…Therefore, patients with these demographic characteristics may have more frequent outbreaks. Long disease duration, on the other hand, may cause frequent outbreaks by causing high inflammation levels and the presence of excess memory T cells in the tissue [ 13 ].…”

“…Trichoscopic examination was performed with Plusmed. Disease severity was evaluated by the severity of alopecia tool (SALT) classification based on affected hair loss area of scalp and scored as S0 (0%), S1 (<25%), S2 (25–49%), S3 (50–74%), S4 (75–99%) and S5 (100%) [ 7 ]. The patients were divided into two groups according to the number of outbreaks non-recurrent disease and recurrent disease.…”