Nutrition-related options for aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome

Photo Cred: Elle Hughes/Pexels

By Kellie Blake, RDN, LD, IFNCP

Aplastic anemia (AA) is a rare immune-mediated blood disorder caused by lymphocyte destruction of early hematopoietic cells. The body stops producing enough new red blood cells and significant fatigue, shortness of breath with exertion, frequent infections, irregular heart rate, and even death can result. Some people with AA can also develop paroxysmal hemoglobinuria syndrome (PNH), a bone marrow failure disorder where red blood cells break down more rapidly than expected.

In some cases, AA progresses to PNH, but PNH can also lead to AA. This AA-PNH syndrome is rare and may be related to radiation and chemotherapy, drug or toxin exposure, autoimmune or rheumatologic diseases, infections, or nutritional deficiencies.

Typical treatment can include bone marrow transplant, but the preferred option for AA-PNH syndrome caused by an autoimmune process is immunosuppressive therapy with drugs like cyclosporine and anti-thymocyte globulin. These drugs work together to suppress the immune cells that are damaging the bone marrow, allowing new blood cells to be created.    

I was not familiar with this condition prior to meeting my client. But, as reported by Alessio Fasano in the Annals of the New York Academy of Sciences, all autoimmune diseases have increased intestinal permeability in common. Therefore, I knew we needed to focus on nutrition and lifestyle-related strategies that would optimize gut and immune system function in order to obtain maximum symptom relief and improve quality of life.  

Case Study

Tiffany is a 34-year-old pharmacist, with a history of acne, Epstein-Barr virus, yeast overgrowth, and urinary tract infections. She was diagnosed with AA-PNH syndrome in October 2018. She began treatment with cyclosporine in early December 2018, but reported her cell counts and symptoms continued to worsen. Promacta was added in February 2019, but after no significant improvement by March 2019, Tiffany sought nutrition therapy to improve her energy level, cell counts, and address her chronic diarrhea. 

Tiffany works in a medical hospital and is also on-call for her local hospice. She reported stress related to her career and indicated frequently disrupted sleep. Tiffany had previously been very active and enjoyed exercise. She admitted that her diagnosis had significantly affected her mental health and she had not tried to consume a nutrient-dense diet or exercise. Diet recall included two to three servings of fruit per day, limited vegetable intake, and she was trying to limit refined carbohydrates. Initial medications and supplements included an immunosuppressant, a bone marrow stimulant, magnesium oxide, a multivitamin, folic acid, and vitamin C. 

The initial plan included:

1. Elimination diet excluding gluten, dairy, red meat, inflammatory oils and additives, eggs, peanuts, corn, soy, caffeine, pork, and chocolate for eight weeks
2. L-glutamine powder, five grams per day for eight weeks to help heal the gut lining
3. Turmeric 450 milligrams three times per day to help reduce inflammation and target gut health
4. Probiotic daily for gut health
5. Multivitamin to fill any nutrient gaps
6. Salivary cortisol and stool testing to determine her level of adrenal dysfunction and dysbiosis
7. Meditation or yoga for 10 to 20 minutes twice per day to assist with stress management
8. Sleep hygiene techniques with the goal of restful, restorative sleep

After four days on the elimination diet, Tiffany’s hemoglobin (Hgb) was up from 8.5 to 8.6, platelets had increased from 29 to 35, and absolute neutrophil count (ANC) had increased from 770 to 1,000. 

After five weeks, Tiffany’s symptoms significantly improved. She reported more energy, especially regarding brain fog. She was much more alert throughout the day and could focus on tasks more easily.  She was waking up more easily and felt more rested upon waking. She did report continued low energy during workouts, but she had learned to take a modified pose or break and overall felt that exercise was helpful. Her acne had drastically improved and since starting yoga, she felt her stress had been better controlled. 

Other lab work indicated an inadequate vitamin D level and salivary cortisol testing revealed early phase one hypothalamus-pituitary-adrenal axis dysfunction. Stool testing confirmed the suspected gut dysfunction with high firmicutes, high prevotella (common in autoimmune disorders), high candida, low secretory IgA, and insufficient pancreatic enzymes.

The follow-up plan included a continuation of previous goals, but based on test results, the following were added:

1. Vitamin D3/K2 5,000 units per day with a goal of 50 to 80 ng/mL and recheck vitamin D level in three months
2. Change the folic acid supplement to the methylfolate version
3. Vitamin C 1,000 milligrams per day ongoing
4. Vitamin B5 500 milligrams, Vitamin B6 100 milligrams, and Vitamin E 800 units per day each for eight weeks
5. Pancreatic enzymes prior to each meal ongoing
6. Fatty fish three times per week ongoing
7. Avoid personal care and home cleaning products with toxic chemicals

In September 2019, her symptoms reduced and Tiffany reports having solid bowel movements for the first time in years. She has added pork, red meat and non-genetically modified corn and peanuts back to her meal plan. She attempted to resume caffeine, but found she experienced anxiety. Tiffany rarely eats dessert and continues to restrict sugar. She has been able to resume a routine exercise program and says she feels great. Tiffany now describes herself as a “recovering busy-bee.” She is using yoga to help manage her stress and anxiety and has begun yoga teacher training.

While the improvement in her quality of life has been dramatic, her lab work has also shown consistent improvement over the past six months. Platelets have increased from 29 to 58, Hgb from 8.5 to 10.4, ANC from 550 to 1530, and WBC from 2 to 3.34.

There is no specific conventional medical nutrition therapy prescription for AA-PNH syndrome. But by investigating root causes, like increased intestinal permeability, we have been able to create a personalized, targeted approach for Tiffany. She has successfully implemented nutrition and lifestyle-related interventions to reverse her disease symptoms and improve her quality of life. 

References

Asano, J., Ueda, R., Tanaka, Y., Shinzato, I., and Takafuta, T. (2014) Effects of Immunosuppressive Therapy in a Patient with Aplastic Anemia-Paroxysmal Nocturnal Hemoglobinuria (AA-PNH) Syndrome during Ongoing Eculizumab Treatment. Internal Medicine. Retrieved from: https://www.jstage.jst.go.jp/article/internalmedicine/53/2/53_53.0684/_pdf

Bischoff, S., Barbara, G., Buurman, W., Ockhuizen, T., Schulzke., J., Serino, M., Tiig, H., Watson, A., and Wells, J. (2014) Intestinal permeability – a new target for disease prevention and therapy. BMC Gastroenterology. Retrieved from: https://bmcgastroenterol.biomedcentral.com/articles/10.1186/s12876-014-0189-7

Brodsky, R. (2014) Paroxysmal nocturnal hemoglobinuria. Blood. http://www.bloodjournal.org/blood/article/124/18/2804/33385/Paroxysmal-nocturnal-hemoglobinuria

Fasano, A. (2012) Zonulin, regulation of tight junctions, and autoimmune diseases. Annals of the New York Academy of Sciences. Retrieved from: https://www.ncbi.nlm.nih.gov/pubmed/22731712

Peslak, S., Olson, T., and Babushok, D. (2017) Diagnosis and Treatment of Aplastic Anemia. Current Treatment Options in Oncology. Retrieved from: https://www.ncbi.nlm.nih.gov/pubmed/29143887