Dataset Information

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

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.

SUBMITTER: Makki AY

PROVIDER: S-EPMC5491239 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

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

Makki Ali Y AY Leddy John J Takano Koki K Jain Rajiv R

Clinical journal of sport medicine : official journal of the Canadian Academy of Sport Medicine 20170701 4

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 diso ...[more]

PMID: 28653968

Similar Datasets

Project description:Bone strength is developed through a combination of the size and shape (architecture) of a bone as well as the bone's material properties; and therefore, no one outcome variable can measure a positive or negative adaptation in bone. Skeletal robusticity (total area/ bone length) a measure of bones external size varies within the population and is independent of body size, but robusticity has been associated with bone strength. Athletes may have similar variability in robusticity values as the general population and thus have a wide range of bone strengths based on the robustness of their bones. Therefore, the purpose of this study was to determine if an athlete's bone strength and cortical area relative to body size was dependent on robusticity. The second aim was to determine if anthropometry or muscle function measurements were associated with bone robusticity.Bone variables contributing to bone strength were measured in collegiate athletes and a reference group using peripheral quantitative computed tomography (pQCT) at the 50% tibial site. Bone functionality was assessed by plotting bone strength and cortical area vs body size (body weight x tibial length) and robustness (total area/length) vs body size. Bone strength was measured using the polar strength-strain index (SSIp). Based on the residuals from the regression, an athlete's individual functionality was determined, and two groups were formed "weaker for size" (WS) and "stronger for size" (SS). Grip strength, leg extensor strength and lower body power were also measured.Division II athletes exhibited a natural variation in (SSIp) relative to robusticity consistent with previous studies. Bone strength (SSIp) was dependent on the robusticity of the tibia. The bone traits that comprise bone strength (SSIp) were significantly different between the SS and WS groups, yet there were minimal differences in the anthropometric data and muscle function measures between groups. A lower percentage of athletes from ball sports were "weaker for size" (WS group) and a higher percentage of swimmers were in the WS group.A range of strength values based on robusticity occurs in athletes similar to general populations. Bones with lower robusticity (slender) were constructed with less bone tissue and had less strength. The athletes with slender bones were from all sports including track and field and ball sports but the majority were swimmers.Athletes, even after optimal training for their sport, may have weaker bones based on robusticity. Slender bones may therefore be at a higher risk for fracture under extreme loading events but also yield benefits to some athletes (swimmers) due to their lower bone mass.

Dataset Information

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

Publications

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

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets