The role of micronutrients in the hair follicle cycle is not fully understood; thus deficiency and/or excess of certain micronutrients may be a modifiable risk factor associated with the development and/or treatment of some types of hair loss and therefore may be included in the workup during an alopecia consultation.
Hereditary hemochromatosis (HHC) is the most common genetic disorder identified in White individuals, with a worldwide prevalence of 1 in 220 to 1 in 250 individuals for a homozygous mutation. It most commonly affects individuals of Northern European descent.1 Men usually present in the fourth to sixth decades of life, while women usually develop symptoms after menopause, as pregnancy and menstruation delay the onset of the disease.2 Early symptoms of HHC include fatigue, joint pain, abdominal pain, and weight loss. Men are more likely to develop complications; in fact, 1 in 10 men with HHC will develop severe liver disease.3 As the disease progresses, affected individuals can present with cardiomyopathy (restrictive and dilated), cirrhosis, hypogonadism (usually hypogonadotrophic), arthropathy, diabetes mellitus, hepatomegaly, hepatic cirrhosis, and primary liver cancer (eg, hepatocellular carcinoma, cholangiocarcinoma).2 Approximately 90% of patients with HHC present with hyperpigmentation at the time of diagnosis.4 Thinning or loss of hair is another finding in HHC, primarily reported in the axillae and pubic regions, and is ascribed to hepatotesticular insufficiency.5
Alopecia areata (AA) is the most common cause of autoimmune, inflammation-induced hair loss, with a calculated lifetime risk of 2%.6 This disease manifests as loss of hair in well-circumscribed patches of skin, most commonly on the scalp; AA also may affect other hair-bearing sites on the body. It is associated with an increased risk for other autoimmune disorders, such as psoriasis, thyroid disease, rheumatoid arthritis, systemic lupus erythematosus, and vitiligo.7
Alopecia areata is induced by an inflammatory infiltrate of CD4+ and CD8+ T lymphocytes around hair follicles in the anagen stage, the active growth phase.8 Although the diagnosis is clinical, some clinicians order laboratory thyroid studies to investigate conditions that may be associated with AA. Common treatments include topical, intralesional, and/or systemic corticosteroids; contact immunotherapy; topical and more recently oral minoxidil; phototherapy; and topical and systemic JAK inhibitors, including tofacitinib.4,9
We reviewed the medical records of 533 patients who were seen in The University of Texas Southwestern (Dallas, Texas) dermatology clinic from January 2015 through January 2020 and were diagnosed with AA. We examined their demographic data and medical history. We sought to determine any relationship between various types of alopecia and certain micronutrient levels through laboratory test results. Ferritin and iron saturation studies were evaluated. We report 4 cases of HHC concurrent with AA, of which 2 HHC diagnoses were uncovered through iron studies as part of the alopecia evaluation.
Case Reports
Patient 1—A 55-year-old White woman presented to the clinic for an alopecia consultation. She had a medical history of hypothyroidism and AA that was treated unsuccessfully with triamcinolone acetonide steroid injections; topical minoxidil; topical steroids; and systemic steroids, specifically oral prednisone. Following evaluation, she successfully transitioned to treatment with oral tofacitinib and continued to do well on tofacitinib.
The patient’s alopecia workup revealed a ferritin level of 245 ng/mL (reference range, 13–150 ng/mL) and iron saturation of 60% (reference range, 20%–50%). She was referred to the hematology department for further evaluation and was diagnosed with HHC. Genetic testing revealed a heterozygous H63D mutation; therapeutic phlebotomy was recommended. Her sister also was recently diagnosed with HHC.