May 16, 2020

A 42 year old woman with multiple health events since birth

Patient Clinical Data Analysis - K. Nikhilesh Krishna, Roll no. 91

"A 42 year old woman with multiple health events since birth"

This is the original in-detailed case report of this particular patient :- https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1

From the information collected her current issues are :

Current issues- frequent falls to the left. Left foot started giving out as well as hand. one fall down stairs sprained and broke ankle (last year). Still

require large amounts of salt to not feel sick (more salt needed when feeling sick) Ingest about 2-4 Tbs a day. Poor stress response. Swelling/ hair loss

(head and eyelashes) Fatigue. Left jaw pain up into face. Breathing is always struggle for me.

Intolerance from most foods, smoke. I never sweat generally sick or not sick. Swelling from emotional stress, eating the wrong thing, exercise, smoke.

Weakness whenever having exertion. Always crave salt and fats, I get swollen I have to take time off work and then rest and after 1-2 weeks feel

better- sometimes if I can’t rest keep getting sicker and sicker. Always less urination which increase when i am fasting. Sleep was bad with 2-4 hours

with nearly no REM sleep, but improved since taking L-Serine 20 gm at night, Ribose 2 gm every hour in water, if any major exercise or exertion then

2 gm before that, 400 mg Cimetidine is helping to reduce swelling which also helping in reducing decreasing androgens and 600 mg NAC to increase

glutathione antioxidants. Iron folate 500% of rda.

I can be slim stomach in the morning and look pregnant by noon. Food impacts but stress as well. After I was once driving through a wild the fire I

swelled up severely.

Case Discussion

As everything seems to be unknown regarding the etiology we need complete history and investigations apart from laboratory findings for a definitive diagnosis and high priority effective treatment goals which has to be continued further in this particular patient for better results.

We would also definitely require detailed imaging studies and neurological examinations to be conducted to rule out most of the underlying health conditions which might be the major cause of her current health status.

From the clinical data and reports available I would like to prioritize her problems in a particular order of importance :

- Frequent falls to the left

- Left foot giving out

- Fatigue or weakness in body

- Breathing problem

- Swelling from emotional stress

- Consuming large amounts of salt

DISCUSSION -

- A specific type of migraine, known as a hemiplegic migraine, can mimic the symptoms of a stroke. In addition, a hemiplegic migraine often causes hemiparesis, the feeling of numbness or weakness on one side of the body. Hence, it could be one of the reasons for frequent falls to one side.

Symptoms of Hemiplegic Migraine

Motor weakness on one side of the body (Hemiplegia)
Headache
Other typical aura symptoms – vision changes (sparkles, shimmers, visual field defects), numbness, tingling, trouble speaking
Fever
Impaired consciousness ranging from confusion to profound coma
Ataxia (defective muscle coordination)
Nausea and/or vomiting
Phonophobia (increased sensitivity to sound) and/or photophobia (increased sensitivity to light)

- Guillain-Barré Syndrome

Guillain-Barré syndrome, also known as acute inflammatory demyelinating polyneuropathy, represents an immune system attack on the insulating covering of the nerves . Destruction of this covering, called myelin, interferes with the transmission of nerve signals to the muscles, leading to temporary paralysis. According to the patient information website the Doctors of USC, Guillain-Barré syndrome most frequently occurs a few days to weeks after a bacterial or viral infection. Common preceding bacterial infections include those caused by Campylobacter jejuni, Haemophilus influenzae and Mycoplasma pneumoniae.

Viral infections that may precipitate Guillain-Barré syndrome include those caused by the hepatitis A or B virus, Epstein-Barr virus, cytomegalovirus and HIV. The National Institute of Neurological Disorders and Stroke reports that leg weakness and tingling represent the most common presenting symptoms of Guillain-Barré syndrome
. Paralysis typically progress up the body, involving the muscles of the trunk and arms. In severe cases, paralysis may be nearly complete. Most patients with Guillain-Barré syndrome experience a full recovery, although residual weakness may persist in some people.

Signs and symptoms of Guillain-Barre syndrome may include:

Prickling, pins and needles sensations in your fingers, toes, ankles or wrists
Weakness in your legs that spreads to your upper body
Unsteady walking or inability to walk or climb stairs
Difficulty with facial movements, including speaking, chewing or swallowing
Double vision or inability to move eyes
Severe pain that may feel achy, shooting or cramplike and may be worse at night
Difficulty with bladder control or bowel function
Rapid heart rate
Low or high blood pressure
Difficulty breathing

* Neurological studies have to conducted for confirmation.

Multiple Sclerosis

Multiple sclerosis, a chronic and often disabling disease, occurs when the immune system attacks the myelin, the fatty substance that surrounds and protects the nerves. Damage to the myelin can lead to damage to the nerves and the formation of scar tissue. The scar tissue interferes with nerve impulses traveling to and from the brain, resulting in a variety of symptoms. Not all multiple sclerosis patients experience the same symptoms. The most common symptoms include fatigue, dizziness and pain along with numbness, tingling, and weakness that often affects one side of the body. The occurrence of symptoms on one side of the body, sometimes the left side, resembles the symptoms of a stroke.

* Consuming large amounts of salt is one such condition found in Bartter's Syndrome.

But there's is no clear cut biochemical evidence to confirm it as Bartter's Syndrome though the symptoms are quite suggestive of this particular condition.

Bartter’s Syndrome

Bartter’s Syndrome is an inherited defect in the renal tubules that causes low potassium levels, low chloride levels, which in turn causes metabolic alkalosis. Bartter Syndrome, is not a single disorder but rather a set of closely related disorders. These Bartter-like syndromes share many of the same physiologic derangements, but differ with regard to the age of onset, the presenting symptoms, the magnitude of urinary potassium (K) and prostaglandin excretion, and the extent of urinary calcium excretion.

Symptoms

Fatigue
Polyuria (Increased urination)
Polydipsia (Increased Thirst)
Nocturia (Waking up at night to urinate)
Generalized weakness
Salt Cravings
Dehydration
Mental confusion
Vomiting
Muscle weakness
Muscle spasms
Tetany
Failure to thrive
Short stature (If untreated)

Other problems - MTHFR mutation, AMPD1 deficiency, PCOS - As the patient suffers from depression (emotional stress), anxiety and eating disorder. She also suffered from an ectopic pregnancy in the past.

* CT scan and MRI of brain can be helpful in the diagnosis of brain tumours, stroke, transient ischemic attacks and any other ischemic attacks in the frontal lobe of the brain.

* Spinal Tap for csf analysis to diagnosis any infections.

* Neurological examinations for Multiple sclerosis and Guillain barre syndrome.

* We should also be able to figure out if the patient is suffering from any immunodeficiency disorders.

* Hemogram, ECG, CXR and CUE to rule out Angioedema which could be one of the major reason for swelling in the head.

Current health status of the patient in her own words -

Update May 2020 - I am diagnosed with Bahcets yesterday. The doctor wanted to put me on colchicine right away but the issue is my G6PD, it can cause hemolytic crisis.

Current condition- vastly improved. Headache was when sick 3 weeks in March. Could not keep down supplements that make a difference as severe vomiting for those 3 weeks. Other than that no headache! First time in life ever. No aura migraine and no migraine at- just painful headache from sickness. Most severe could be 2 times a week in the summer. Sleep is great when I am not busy with work. We have enough for the house now and will be slowing down in January once all the projects we have pre booked settle down.
The biggest change in pills seems to be the Nattokinase. I notice when I don’t take that one or run out. But all make a difference.
Nothing serious right now. Occasional hip and knee joint pain and cervical neck pain form my degenerative spine- but those are longterm issues and I prefer CBT to focus around the pain than meds. Aside the 3 weeks of what may have been Covid where AI could not take my pills for vomiting and diarrhea and had a flare, I have been feeling remarkable.
Still have swelling to stressors, but less severe I would say overall. Last flare had ulcers in mouth and vaginal. Those happen when I get really sick. Happened more before pneumonia vaccine as would get bronchitis and pneumonia more often.

TREATMENT

Non pharmacological action - Dietary and lifestyle changes, avoid alcohol and smoking, cognitive behavioural therapy(CBT) for emotional stress.

Pharmacological action - Ribose for energy, creatine monohydrate, Cimetidine to decrease swelling (with no evidence), L serine, Triptans for migraine.

Treatment for Behcet's Disease - Apremilast (Otezla), an oral selective phosphodiesterase 4 (PDE4) inhibitor, is the first and only approved treatment by the US Food and Drug Administration (FDA) for oral ulcers associated with Behcet's Disease. Apremilast was approved as a 30 mg twice-daily therapy for adult patients in the United States. There are currently about 5 in 100,000 US residents affected by Behcet's Disease. Multiple systems can be affected by the disease, but it's often characterized by recurrent oral ulcers accompanied by lesions in other organ systems.

Otezla's approval was based on the efficacy and safety results of a randomized, double-blind, placebo-controlled phase 3 RELIEF study, in which 207 previously-treated adult patients with Behcet’s Disease and active oral ulcers were treated with either therapy or placebo.

Treatment of Behcet's Disease typically focuses on reducing discomfort and preventing serious complications. Although Behcet's is a chronic disease, patients may have periods of time when symptoms disappear temporarily (remission). The severity of the disease varies from one patient to another. Some patients may experience milder symptoms, while others may develop complications affecting various organ systems. It is important to treat the manifestations of the disease accordingly.

Behcet’s Disease affects different parts of the body, therefore; it is likely patients will have different doctors. It will be helpful to have a primary care physician in order to coordinate treatment and monitor care. Communication among various physicians is very important in order to achieve optimal care.

Rheumatologists (doctors specializing in arthritis and other autoimmune and inflammatory disorders) are the most knowledgeable about the disease and should be the main physicians involved in the care and treatment of Behcet's Disease patients.

https://www.behcets.com/basics-of-behcets/treatment/

*** Clinical and scientific research has repeatedly shown that giving ribose to energy deficient hearts and muscles stimulates energy recovery. One important study involved healthy athletes participating in high-intensity, endurance exercise over the course of one week. After exercise the energy level in the athlete's muscle was reduced by almost 30%. Giving 10 grams of ribose per day for three days following exercise restored muscle energy levels to normal, while therapy with placebo provided virtually no effect.²⁰ This study clearly showed that ribose stimulated the energy recovery pathways in the body, helping the muscle rebuild its energy supply quickly and completely. Even after three days of rest, muscle that was not given ribose remained energy-starved and fatigued.

*** The “sleep maintenance” (L-serine, 24.9 vs. placebo, 22.8; p = 0.02) and “sleep initiation” (L-serine, 26.9 vs. placebo, 24.7; p = 0.008) factor scores were significantly better during L-serine intake compared with placebo (Figure 1). The “morning sleepiness” (L-serine, 24.1 vs. placebo, 22.8; p = 0.24), “morning vague anxiety” (L-serine, 26.7 vs. placebo, 24.9; p = 0.36), and “Satisfaction of sleep” (L-serine, 23.0 vs. placebo, 22.8; p = 0.75) factor scores showed no significant differences.