Arthritis and Connective Tissue Disorders
Sometimes, people want a quick answer from our provider, while in the room, as to 'exactly' what is behind their health problems. Our discussion of the Arthritis Family Tree (below) is one such topic which we often discuss. We hope you’ll see some of the challenges to providing such answers as well as understand our desire to hunt down the causes behind your health problems or symptoms.
To understand many health problem requires considering a huge number of possibilities and things to be ruled in or ruled out in any intelligent discussion of what's wrong with a person for any given condition. The challenge is: how many possibilities do we need to discuss that will be easy to make sense of in about 5 or 10 minutes.
Such is the following case we'll work at dissecting. Hopefully, you'll find it fun and we hope it will also illustrate a huge enormity of possibilities we consider when working to help you with any health problem. There are simple problems, connected problems, interconnected problems, and interconnected complex problems.
To appreciate the reasons and science behind the conditions illustrates why many conditions remain so poorly understood, and so poorly treated. There are a number of: bony, connective tissue, metabolic, neurologic, and infectious issues which can cause or mimic bone like pain.
Some examples from the Arthritis Family Tree are listed in a breakdown by category, and will be listed (and grown) from each of the potential physiologic and pathologic backgrounds and developments.
The Arthritis Family Tree
Our constant time traveler, Rodney Dangerfield, was by the office to advise us that he's looked up his family tree-- he found out he was the family sap! And so it goes with pain, getting 'no respect' and the human condition.
The following is a 'breakdown' -a general summary of conditions inside and outside the Arthritis Family Tree and on nearby trees:
1. Diffuse Connective Tissue Disease
a. Rheumatoid Arthritis
b. Sjogren's Syndrome
c. Bechet's Syndrome
d. Relapsing Polychondritis
e. Systemic Lupus Erythematosus
f. Discoid Lupus Erythematosus
g. Systemic Sclerosis
h. Eosinophilic Fascitis
i. Polymyositis and Dermatomycositis
j. Polymyalgia Rheumatica
l. Temporal Arteritis
m. Polyarteritis Nodosa
n. Wegener's Granulamatosis
o. Mixed Connective Tissue Disease
2. Arthritis Associated with Spondylitis
a. Ankylosing Spondylitis
b. Reiter's Styndrome
c. Psoratic Arthritis
3. Osteoarthritis and Neurogenic Arthropathy
b. Neurogenic Arthropathy
4. Avascular Necrosis
5. Infections of Bones and Joints
a. Infectious Arthritis
6. Crystal-Induced Conditions
b. Ideopathic Hyperuricemia
c. Calcium Pyrophosphate Dihydrate Crystal Deposition Disease
d. Basic Calcium Phosphate and Other Crystal Disorders
7. Tumors of Bones and Joints
a. Benign Tumors of Bone
b. Malignant Tumors of Bone
9. Paget's Disease of Bone
10. Nonarticular Rheumatism
a. Spasmotic Torticollis
b. Low Back Pain
d. Tendonitis and Tenosynovitis
11. Acute Sprains and Strains
12. Disorders with Joint Positions
13. Bone Deformities
14. Neurovascular Syndromes
15. Congenital deformities
16. Epicondylitis and Tendonitis
17. Neurologic/Infectious Conditions which Mimic Arthritis or Bone Pain
a. Stiff Person Syndrome
b. Stiff Person Syndrome Variant Disease
b. Neuro Syphillus
c. Neuro-Gonococcemia (gonoccoal infection of joint, bone, tendon, ligament)
18. Infections with Vectors which Mimic Arthritic Pain
a. Tic Borne Diseases
b. Mosquitto Diseases
c. Other Parasite Diseases
Arthritis & Stiff Person Syndrome
Among the 'arthritis family' there is Rheumatoid Arthritis, Degenerative Arthritis, Osteoarthritis, and Gouty Arthritis: then there's 'Stiff Person Syndrome' which hurts as much as the other arthritis conditions, yet Stiff Person Syndrome is classified as a neurologic condition.
Discovered in 1956, at the Mayo Clinic, by Doctors Moersch and Woltman, Stiff Person Syndrome is a chronic painful condition which mimics many arthritis symptoms. While 'classic' Stiff Person Syndrome is rare, what appears to be a 'lesser' variant also appears to be more common, and 'written off' as not meeting the strict Stiff Person Syndrome criteria.
Stiff Person Syndrome
In 1956, Classic Stiff Person Syndrome (StiPS) was first described and was characterized by episodes of slowly progressive stiffness and rigidity in the paraspinal muscles (muscles running from neck to tail bone on either side of the spine), as well as limb muscles (arms & legs, including hips and shoulders).
Stiffness as a key symptom. Yet, some people do not have such a primary problem with stiffness. This second group of people has a larger problem with coordination: they lack upper body coordination or lower body coordination, or both. Typically the patient will talk about 'tripping' over their own feet, or tripping on uneven places on the ground (although the ground is level and even).
A third group of patients will have the typical (first) type of classical stiffness and the (second) group of problems with coordination. Neither condition is good, and with both types of symptoms, problems can worsen more quickly.
So, who typically gets the condition? Usually people over 30 develop the condition. Since the condition develops over several months to years, the gradual onset makes an exact timeline difficult to identify. StiPS is more often found in people who carry the gene for diabetes: they're about 10 times more likely to have the condition. Some people with thyroid conditions also are more likely to develop StiPS. The pathophysiology (how the condition affects the body) is by autoimmune disease pathways, which is why we see it in older people and why the disease comes on slowly and is not noticed for some time. An autoimmune disease is one in which the immune system turns on itself to attack its' own tissue: in this case the body attacks the neurotransmitter GAD (Glutamic Acid Decarboxylase), which reduces the normal formation of GABA, (Gamma AminoButyric Acid).
To determine if a person may have StiPS, a physical exam and a simple blood test called 'anti-GAD Antibodies' is performed. GAD is a precursor substance which changes into GABA, one of the main neurotransmitters effecting brain chemistry, which affects mood, memory, recall, coordination, pain sensation, as well as the ability to maintain deep sleep.
Since each of the various arthritic conditions can mimic StiPS, tests to prove if these other arthritic conditions are present also need to be performed. Due to stiffness and sometimes stiffness with occassional spasms, the disease also mimics Tetanus, epilepsy, cerebral palsy, encephalomyelitis, and cebellar (deep brain) deficits.
While stiffness and coordination are significant symptoms, without treatment, a gradual worsening of the conditions occurs. Pain becomes a more dominant symptom, since without GABA, pain sensations are exagerated. Loud noises and emotional stress will worsen symptoms, since GABA is used to calm a person under these conditions.
In certain rare cases, StiPS is associated with the presence of certain cancers, such as breast cancer. Therefore, additional clinical evaluations need to be considered.
So, what can be done, what are the treatments? There are 4 types of therapy available:
1. The first therapy is treatment via a monthly IV infusion of immunoglobulin (IVig); and/or infusion of healthy antibodies (very expensive and requires an IV treatment, one day every month);
2. A second therapy is using plasmapheresis to remove the auto-anti-bodies from the blood (and also requires about 6 hours and a plasmapheresis bed one day every month, which is also very expensive);
3. A third option is to treat the symptoms using NSAIDS (Motrin, Naprosyn) and/or narcotics (hydrocodone) and muscle relaxants such as diazepam (Valium) or Baclofen. While this third therapy 'works' this third choice is associated with fatigue, and can disrupt a person's ability to safely focus on their work, or on driving;
4. A fourth choice is to use specially compounded, sustained release (SR) Hydrocortisone. Hydrocortisone (Cortisol) is a natural hormone which should be produced by the body at a rate of about 20 mg/day.
People who develop StiPS have a loss of natural Cortisol production. Usually a dose of 10 to 20 mg/day of Hydrocortisone SR will provide relief of painful symptoms and spasms and will improve coordination as well as prevent a worsening of symptoms. This 4th choice is about $45/month (versus several thousand dollars for the 1st two choices), but needs to be done through a specialized compounding pharmacy. Fortunately, we have several fine compounding pharmacies in New Mexico.
Finally, there is 'atypical' (or lesser) Stiff Person Syndrome, where the severity of symptoms is diminsihed, with or without walking or coordination issues. People with 'atypical' StiPS will still have pain, fatigue, and a positive anti-GAD antibody test. Often these people will show other symptoms of low cortisol, such as abnormally low blood pressure.
Most unique in the 'atypical' presentation, the administration of Cortisol does not cause weight gain (where it would cause a consistent weight gain if the person had enough Cortisol). Most of the patients who've been treated with Cortisol for 'atypical' Stiff Person Syndrome have not gained weight! Also these same people tend to sleep better and have better recall- all symptoms of better GABA levels.
If any of these conditions describe you or a family member, please stop on by, or call to make an appointment. You'll be glad you did!