Juvenile pernicious anaemia and hypothyroidism. A family study

Area of Science:

• Endocrinology
• Gastroenterology
• Immunology

Background:

• Pernicious anemia (PA) is an autoimmune condition affecting vitamin B12 absorption.
• Autoimmune polyendocrine syndromes can include PA, hypothyroidism, and other endocrine disorders.
• Early-onset PA in young adults is less common but warrants investigation for underlying causes.

Purpose of the Study:

• To report a case of early-onset pernicious anemia in a 21-year-old male.
• To investigate the familial occurrence of pernicious anemia and associated autoimmune markers.
• To highlight the potential genetic and autoimmune links in patients with pernicious anemia and hypothyroidism.

Main Methods:

• Clinical case presentation and patient history.
• Review of medical records for hypothyroidism treatment.
• Serological testing for gastric parietal cell antibodies and thyroid antibodies in the patient and family members.

Main Results:

• The patient presented with sudden-onset pernicious anemia at age 21.
• He had a history of hypothyroidism since age 6.
• Pernicious anemia was also diagnosed in his father and paternal aunt.
• Gastric and thyroid autoantibodies were detected in the patient, his father, paternal aunt, and mother.

Conclusions:

• This case underscores the importance of considering autoimmune conditions like pernicious anemia in young adults with a family history.
• The presence of autoantibodies across multiple family members suggests a genetic predisposition to autoimmune diseases.
• Concurrent autoimmune disorders, such as hypothyroidism and pernicious anemia, are common within affected families.