A 20-year-old muscular and well-toned male presented to my office on June 18, 2024, complaining of right hip and low back pain made worse by running. Tommy thought the pain was related to the after-effects of a fibula fracture that occurred while playing basketball on Sept. 21, 2023, when “a teammate ran into the side of my (right) lower leg.”
About a week after the incident, he had X-rays that revealed a distal fibula fracture. His medical doctor instructed him to wear a boot for 12 weeks. On Feb. 1, 2024, he was running on the basketball court and re-fractured the same fibula area. His medical doctor had him wear a boot for another six weeks.
Tommy is well-defined with low body fat, good muscle definition, and a muscular physique.
Investigating Bone Health
Why would a well-built, healthy-looking young man sustain a bone fracture in a common on-the-court incident? I was concerned about his overall health (bone health particularly) because I know the standard American diet (SAD) causes inflammation and promotes an acidic pH in the body. In an attempt to restore our cells’ optimal alkaline state, calcium is withdrawn from our bones.
According to the National Osteoporosis Foundation, 10 million Americans have osteoporosis, while 44 million Americans suffer from low bone mass.1
Could he have bone loss and what would the cause be? Examples of risk factors for osteoporosis and fractures include family history of osteoporosis and/or fracture, frequent falling, vitamin D deficiency, smoking, excessive alcohol intake, malabsorption, heredity and body frame, and some medications, such as prednisone. Other factors include chemical toxins such as plastics, food additives, pesticides, and heavy metals.
Tommy’s mom shared that she and her husband were low in vitamin D, and I was concerned that Tommy was eating excess lunch meats, not getting enough quality protein and maybe consuming too many carbs. His breakfast was usually Pop Tarts and lunch was processed meats. His exercise demands were high, but his nutrition could not support his growing musculoskeletal health. These create the perfect recipe for bone loss.
A Complicating Factor?
A possible complicating factor I became aware of late into the course of treatment was that Tommy was born with glucose-6-phosphate-dehydrogenase deficiency (G6PD).
Glucose-6-phosphate dehydrogenase is an enzyme that plays a crucial role in the proper functioning of red blood cells. It is involved in the pentose phosphate pathway, a metabolic pathway that helps protect red blood cells from damage caused by reactive oxygen species (ROS) by producing nicotinamide adenine dinucleotide phosphate (NADPH). NADPH is essential for maintaining the integrity of red blood cells by reducing oxidative stress.2-3
G6PD deficiency is a genetic disorder resulting from mutations in the G6PD gene, which provides instructions for making the G6PD enzyme. This condition is inherited in an X-linked recessive manner, meaning it is more common in males, who have only one X chromosome, than in females, who have two X chromosomes.3-4
Most individuals with G6PD deficiency are asymptomatic and live normal lives. However, exposure to certain triggers can lead to acute hemolytic anemia, whereby red blood cells are destroyed faster than the body can replace them. Common triggers include: certain medications (e.g., antimalarials, sulfonamides, aspirin, and some NSAIDs); foods such as fava beans, soy, peanuts, legumes; infections; and chemicals like naphthalene, found in mothballs.3,6-7
Symptoms of hemolytic anemia due to G6PD deficiency can include fatigue and dizziness, pale or jaundiced skin (yellowing of the skin and eyes), dark urine, rapid heart rate and shortness of breath, back pain and abdominal pain.5-7
Tommy’s mom told me he was born with jaundice and that’s when they discovered G6PD deficiency. It usually is diagnosed through a blood test that measures the level of G6PD enzyme activity. Other tests may include a complete blood count, serum hemoglobin test, and reticulocyte count to assess the overall health and functionality of red blood cells.5,7
Management and Treatment
Management of G6PD deficiency primarily involves avoiding known triggers. For those who experience hemolytic episodes, treatment may include discontinuing any triggering medications and treating underlying infections. In severe cases, blood transfusions or oxygen therapy may be required.5-7
Epidemiology / Testing
G6PD deficiency is the most common human enzyme defect, affecting over 400 million people worldwide. It is particularly prevalent in regions where malaria is endemic, such as sub-Saharan Africa, the Mediterranean, and Southeast Asia. This prevalence is thought to be due to a protective effect against malaria.3-4
While many individuals with this condition remain asymptomatic, exposure to certain triggers can lead to acute hemolytic anemia. Was Tommy avoiding known triggers that could contribute to his low back pain?
The first test I could do in my office is a bioimpedance analysis (BIA). Tommy had a healthy phase angle of 10.3 (“normal” generally falls between 5-10). His fat mass was 11% and his hydration appeared adequate. I also ordered a dual-energy X-ray absorptiometry (DEXA) and a CBC blood test with a 25-hydroxyvitamin D test.
Tommy’s abnormal lab results:
- Vitamin D, 25-OH was 26 ng/mL (lab range 30-100; optimal range 60-80).
- RDW was 10.7 L (lab range 11.0-15%; optimal range 12.5-14.5%).
- Absolute eosinophil level was 710 (lab range 15-500).
The DEXA revealed he had normal bone density. However, Tommy has an obvious vitamin D deficiency. This is common and can lead to issues with bone health, such as osteoporosis in adults, and may also be associated with other health risks like cardiovascular disease, depression, and immune system dysfunction.
A low RDW indicates that the red blood cells are relatively uniform in size, which is generally not a cause for concern and is not typically associated with specific types of anemia.
Tommy had elevated eosinophils, which are a type of white blood cell involved in the body’s immune response, particularly in allergic reactions and fighting parasitic infections.
My main concerns were reducing his hip and low back pain, getting his vitamin D levels up to at least 60 ng/mL and improving his diet.
If we have further concerns about bone, there are blood and urine tests that can be used to identify possible causes of bone loss. Some of these tests include: blood calcium levels, 24-hour urine calcium measurement, thyroid function tests, parathyroid hormone levels, testosterone levels in men, and a repeat 25-hydroxyvitamin D test to determine whether the body has enough vitamin D. There are also biochemical marker tests, such as NTX and CTX.
Some of the tests listed above can help to identify if your patient has another medical condition that is causing bone loss. This is called secondary osteoporosis. I will monitor the eosinophils in a follow-up blood test.
Editor’s Note: This article continues in the December issue, with Dr. Tucker discussing nutritional tips / supplements to improve his patient’s bone health; weight-bearing and resistance exercise programming; and other potential underlying causes of bone issues to consider in the clinical setting.
References
- Pizzorno L, Pizzorno J. Health Bones Healthy You! AlgaeCal, Inc., 2022.
- Glucose-6-Phosphate Dehydrogenase Deficiency. MedlinePlus.
- Richardson SR, O’Malley GF. Glucose-6-phosphate dehydrogenase deficiency. StatPearls [Internet]; Treasure Island, FL: StatPearls Publishing, January 2024.
- Ibid.
- G6PD Deficiency. HealthDirect.gov.au.
- G6PD Deficiency. The Cleveland Clinic.
- Glucose-6-Phosphate Dehydrogenase Deficiency. National Organization for Rare Disorders.
