Complex patient with autoimmunity, humoral deficiency treated with combined modalities.

This 42 year old female a had a history of stable Crohn’s disease, otherwise, she was in excellent health until 2009. Previous to the onset of illness she had been an avid athlete who ran 10 miles several times per week. She lives in a neighborhood known to be Lyme endemic. Her dog has recently been treated for Lyme disease. Her husband had a bull’s eye rash 8 years ago and was successfully treated with a short course of doxycycline. She has no recollection of a prior tick bite, flu-like illness or rash of any kind.

Her colitis flared for no apparent reason. She experienced an unusually difficult exacerbation requiring high dose steroids. As the gastrointestinal symptoms cleared she began to experience joint pain which ultimately became wide spread. Inflammatory bowel diseases, Crohn’s and ulcerative colitis can be associated with “extra-colonic” autoimmune manifestation including inflammatory arthritis.  She saw numerous doctors at both the Mayo Clinic and Johns Hopkins who concurred with this diagnosis. Frustratingly, she did not respond as expected. A wide array of immunosuppressive biological agents including Enbrel and Remicade were prescribed over a two year period; during this time her illness became much worse. She became house bound. She suffered with debilitating fatigue, neurological symptoms including tremors, numbness and tingling, weakness, poor balance and progressive cognitive deficits. She saw a homeopath who diagnosed Lyme disease. She was prescribed a wide array of natural therapies which proved to be ineffective. Another LLMD  treated her with IV Rocephin for three months and she continued to steadily feel worse. It was at this point that I first her in my office.

She was disabled by diffuse joint pain, large, medium and small joints, from head to toe. She was in pain management and taking a high dose of  opiod. She was unable to focus or think clearly. Fatigue was beyond description. Lifting her head from the pillow was a task, taking a shower a massive endeavor. She experieneced constant shortness of breath.  She lost considerable weight and muscle mass. She had constant flulike symptoms with low-grade fevers, chills and night sweats. Neurological symptoms included: numbness and tingling, a loss of balance and a loss of coordination, episodes of frank confusion, progressive memory loss, trouble reading and writing, uncontrollable thoughts, irritability, anxiety and depression.

Her examination was remarkable for joint tenderness without swelling or signs of inflammation and and abnormal neurological examination which showed weakness, asymmetric reflexes and a severe loss of sensation of lower extremities. 

Laboratory testing revealed positive revealed a positive IgeneX WB with IgM 39 and 41 bands. Coinfection panel was negative. Blood smear exam showed active parasitemia. 

Intravenous antibiotics in combination and anti-malarial medication were administered for months; the clinical course waxed and waned; a modicum of  durable improvement was seen after 6 months.

She experienced unusually prolonged and recurrent Herxheimer reactions.

 A sleep study showed an absence of both deep sleep and REM.

She was treated aggressively for Lyme and Babesia.

An EMG/NCV showed no significant peripheral neuropathy. A small fiber biopsy was scheduled but not done.

After 7 months of IV antibiotics low pressure hyperbaric oxygen therapy was started and she began to feel better after a few weeks.

She was tested for immune deficiency. Total IgG was borderline low, 400, IgG subclass 2 was 170, below the normal range, the other IgG subclasses and IgM were normal.

Baseline pneumococcal antibody subtypes were obtained: she had no immunity.

A polyvalent pneumococcal vaccine was administered; four weeks following vaccination peumococcal subtype antibodies were drawn and she had virtually no response.

She was diagnosed with a humoral deficiency and was approved for the use IViG. 

She started IVIG.

After 8 months of treatment she has made good progress towards recovery and continues to improve.

Discussion: 

When this patient was evaluated in a major medical center, a wide range of specialists offered opinions through the lens of their areas of expertise. Infectious diseases. Gastroenterology. Rheumatology. Pulmonology. Pain management. Immunology. Neurology. Psychiatry. And perhaps a few more. She has a multi-system illness which does not fit into the established paradigms; these specialist through the myopia of their specialty  have been indoctrinated to believe nothing here resembles Lyme disease, which they have been taught is a straightforward disease, easily treatable. The lead physician who is responsible for tying together all the disparate opinions believes the same. 

The misinformation fed to these specialists comes from a handful of "experts" who refuse to consider they could be wrong. Their views are reinforced because they function within a community of like-minded colleagues.