An Unusual Cause of Headache and Fatigue in a Division 1 Collegiate Athlete

Abstract

Abstract:Variegate porphyria (VP) is an autosomal dominant disorder of porphyrin metabolism. We report a case of a 21-year-old male collegiate athlete who complained of recurrent headache and fatigue. Extensive testing after initial presentation failed to identify a cause. Months later, his grandmother was diagnosed with VP after being hospitalized; hence, he was tested. He was positive for a heterozygous missense mutation, R168H, in one protoporphyrinogen oxidase allele. This case highlights a rare disorder of heme synthesis that should be considered in the differential diagnosis of exertional fatigue and headaches in athletes. When other more common causes of fatigue and/or headache are unable to be identified, a more focused history and examination may lead to a more unusual but crucial diagnosis. To our knowledge, there are no reported cases of this condition in Division I collegiate athletes.

Acute porphyrias – A neurological perspective

“…Results of urine and stool analyses are shown in Table SII . Diagnosis of VP was confirmed by positive plasma‐fluorescence‐scan (emission wave length of 627 nm) (Hift et al., 2004 ) and through genetic testing (known heterozygous mutation in exon 6 of the PPOX‐gene; mutation c.503G > A, p.Arg168His) (Frank et al., 1998 ; Makki et al., 2017 ).…”