Background
Celiac disease is a chronic, heterogeneous, autoimmune disorder that occurs in children and adults who have a genetic predisposition to the development of antibody-mediated damage to small intestinal mucosa (and other organs) resulting in gluten sensitivity.[1,2] The disease is based on the synthesis of immunoglobulin (Ig)A- and IgG-class antigliadin antibodies (AGAs) and deamidated gliadin peptides (anti-DGPs), anti-endomysial (EMAs), and anti-transglutaminase type 2 antibodies.[3–5] Genetic predispositions related to the presence of the HLA-DQ2 and HLA-DQ8 alleles characterize 95% of patients with celiac disease.[2] Based on serological studies, the prevalence of celiac disease is approximately 1.4%. However, according to morphological studies of bowel biopsy samples, the prevalence is 0.7%.[6]
The clinical presentation of celiac disease includes not only gastrointestinal symptoms (diarrhea, abdominal pain, and weight loss), but also extraintestinal manifestations including disorders of: the central and peripheral nervous systems; the cardiovascular, endocrine, genitourinary, and musculoskeletal systems; and the skin (herpetiform dermatitis or Dühring's disease).[1,7,8] These symptoms suggest a downward trend in the occurrence of the classic enteral form and the predominance of atypical and asymptomatic forms.[9]
One of the most common extraintestinal manifestations of celiac disease and hypersensitivity is neuropathy,[3] which is typical among males approximately 55 years of age.[10–12] In the USA and Europe, the prevalence of neuropathy among patients with celiac disease varies from 4% to 23%[4,13] in adults and from 0% to 7% in children.[14–19] When compared with the general population, patients with celiac disease have a 2.5-times greater risk of developing the condition.[20] For clinicians, difficulties occur in cases of celiac neuropathy in the absence of intestinal manifestations, which is characteristic in one-third of adult patients,[21] and leads to an average of a 9-year delay in diagnosis.[3,22]
The spectrum of gluten neuropathy variants is highly diverse and includes: sensory and sensorimotor symmetric axonal polyneuropathies;[23] polyneuropathy of thin fibers;[10] multifocal acquired motor neuropathy;[24,25] sensory ganglionopathy (sensory neuronopathy);[26] autonomic neuropathy (dysautonomia) manifested by postural nausea, syncope, tachycardia, and dizziness;[27] carpal tunnel syndrome;[28] and asymmetric sensory polyneuropathy.[10] Cases of acute axonal demyelinating forms in childhood have also been described.[29] Rarer variants include neuromyotonia, the inclusion of body myositis, and a combination of polyneuropathy and polymyositis.[10]
Despite a fairly wide range of celiac neuropathies, the acrodystrophic variant of polyneuropathy has not been previously described.
Therefore, the purpose of this case study is to present the clinical, immunological, and electrophysiological manifestations of axonal acrodystrophic polyneuropathy associated with celiac disease.
J Med Case Reports. 2021;15(615) © 2021 BioMed Central, Ltd.
