Page 13 - Journal of Special Operations Medicine - Fall 2015

Frostbite: A Novel Presentation of

Glucose-6-Phosphate Dehydrogenase Deficiency?

Justin M. Bowles, MD; Chris Joas, MD; Steven Head, HM1

ABSTRACT
Acute hemolytic anemia (AHA) due to glucose 6- phosphate Case Presentation
dehydrogenase (G6PD) deficiency has rarely been recog-
nized as a contributor to the development of frostbite. A 32-year-old Hispanic, active duty, male Marine with
We discuss a case of frostbite in a 32-year-old male Ma- G6PD deficiency was admitted to Alaska Regional Hos-
rine with G6PD deficiency during military training on pital for severe bilateral frostbite (Figure 1) that occurred
Mount Mckinley in Alaska, which eventually led to a while summiting Mount McKinley in Alaska (6,194 m)
permanent disability. In this report, the pathophysiology in May 2014. He was participating in a 14-day, military-
of G6PD deficiency, the effects of hemolytic anemia, and led expedition, with a group of eight other Marines. This
factors that contribute to frostbite will be discussed, as patient was the only frostbite casualty. He was the only
well as the clinical findings, treatment course, and the individual of Hispanic origin and the only individual
outcome of this case. The patient was evacuated and with G6PD deficiency. The patient reports no specific
admitted to Alaska Regional Hospital. He was treated risk factors for frostbite distinct from any other members
for fourth-degree frostbite, ultimately resulting in the of the expedition such as uniquely wet feet or clothing or
complete or partial amputation of all toes. Although it exposures. All eight members of the expedition report
cannot be proved that AHA occurred in this patient, this cough and nasal congestion. The patient reports taking
case potentially adds frostbite to the list of rare but pos- two doses of acetazolamide 125mg on the day before
sible clinical presentations of G6PD deficiency. and one dose on the morning of the summit attempt.
Four of the eight Marines also took acetazolamide, at
the same dose. Our patient noted dark urine, which he
Keywords: G6PD deficiency; frostbite; acetazolamide; acute attributed to dehydration due to low fluid intake. He
hemolytic anemia; oxidative stress; reactive oxygen species; reports uncharacteristic extreme fatigue on the day of
high altitude
injury that was out of proportion to his previous perfor-
mance compared with the other participants. He noticed
no jaundice or pallor.
Introduction
G6PD deficiency, an X-linked disease, is a common
cause of AHA, affecting 200 to 400 million people Figure 1
worldwide. This enzyme is essential in the protection The patient’s feet
1
of erythrocytes against oxidative stress. Reactive oxygen at 9 days after
species are both exogenous and naturally occurring and presentation.
can lead to premature cellular destruction and varying
degrees of AHA. There are 187 known mutations in the
G6PD gene. The severity of presentation is due to the
subtype of G6PD deficiency and the amount of oxida-
tive stress. As an ever-increasing number of wilderness The patient remained ambulatory and was evacuated af-
2
enthusiasts venture into the backcountry and as our mil- ter descending to an elevation of approximately 2500m.
itary continues to operate in more extreme and austere On hospital admission, he was started on standard frost-
environments, medical professionals need to be aware of bite protocol including sympathetic block via epidural
the possible added risk to those with G6PD deficiency. access, dextran, and oxycodone. A technetium frostbite
Frostbite has not previously been described in the litera- scan revealed impaired flow extending to the mid toe
ture as being a complication of G6PD deficiency. on all digits. The patient was found to have hemoglobin

1