MEDICINE CASE DICUSSION

42 Year old patient with multiple health events

BY: NIVRUTHA RATNAPURAM, ROLL NO. 134

SOURCE MATERIAL: http://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html

I have been assigned this case to get a better understanding of the problems faced by this de-identified patient in order to improve my knowledge regarding her various ailments.

With the history that the patient has given along with the lab investigations, thorough details of her treatment and her goals of hiking and her worry over her mental health more than her physical health, the problems in order of priority I have found are:

1. Frequent pain on her left side along with increased pain tolerance 

2. Chronic fatigue

3. Swelling over face and abdomen

4. Oliguria

5. Migraine with aura

6. Sleep Problems and Mood Disorders

MY UNDERSTANDING OF THE PATIENT'S PROBLEMS ARE:

1. FREQUENT PAINS

There is history of multiple sprained ankles and knees since the age of four, with continued history of pain but being bearable at the age twenty four to the current pain in the left jaw. 

Where as the history of sprained ankles and ability to walk on foot even after sustaining injuries, which usually go unnoticed by the patient, are suggestive of increased pain tolerance. Along with the history of Fibromyalgia in her mother, it is likely that she also has FIBROMYALGIA as there is an eight fold chance of a first degree relative to be affected.

SOURCE: https://ghr.nlm.nih.gov/condition/fibromyalgia

Regarding her symptoms of pain in left jaw, numbness in the left side of face and frequent falls on left side, there doesn't seem to be any information about whether a thorough physical examination was ever done. So, as of now I'm unable to form an opinion regarding this aspect of the patient's symptoms but I would strongly advise that the matter be further investiagated.

Hemiplegic migraine is the most probable diagnosis with the  information provided.

2. CHRONIC FATIGUE

Patient has a history of fatigue which seems to weigh her down often leading to inability to perform day to day activities. She also complains of having exercise fatigue. Which has improved marginally in recent years thanks to the patient consuming Ribose which helps her sleep, which in turn helps with her problem of fatigue.

I would go as far to say that I suspect the patient to have CHRONIC FATIGUE SYNDROME which is characterised by profound fatigue, sleep abnormalities, pain and other symptoms that are made worse by exertion. Unfortunately there is no supposed treatment that can cure the patient of these symptoms, but there are various things that can be done to bring down the fatigue to managable levels.

- Self Care by stress management and using relaxation techniques such as meditation, yoga could improve the patient's health.

-Support groups could also be a source of comfort

-Antidepressants are recommended since mood disorders and depression are a part of the patient's problems and also a part of this syndrome.

Diagnosis of G6PD deficiency and AMPD1 is also suggestive of muscle weakness and fatigue.

3. SWELLING OVER FACE AND ABDOMEN

This particular problem is related to the diagnosis of G6PD Deficiency in the patient. There is marked reduction in the levels of NADPH leading to increased free radical damage to kidney and excessive ion loss and disturbed water balance leading to edema.

According to the patient's history, edema has been a problem since she was one year old and continues to be a problem to this age. Food, smoke, exercise, stress, fava beans, sulpha drugs seem to be triggers for developing edema.

Since the patient is diagnosed and is aware of the manifestations of this disease, it is fairly easier to control by avoiding the trigger factors and using cimetidine which seems to help the patient.

4. OLIGURIA

Due to the continual loss of ions brought out by deficiency of NADPH and ATP which are needed for active absorption of ions, the patient complains or decreased urination which is another symptom of G6PD Deficiency. So patient has the urge to consume salts due to decreased urine output.

5. MIGRAINE WITH AURA

Patient gives a severe history of headaches since she was two years old which gradually increased in severity around the age of 14. At the age of 34, episodes of headache increased along with an increase in severity and aura intensified to a point of loss of vision. 

The aura was described as having started as a small flicker in the upper left which eventually became a crescent that covered the entire centre of her vision.

INVESTIGATIONS: A complete eye examination, Head CT and MRI

Triptans are advised for treatment.

6. SLEEP PROBLEMS AND MOOD DISORDERS

Slleep has always evaded the patient since she was a child with never more than 2-3 hours of rest and nearly no REM sleep. This is due to impaired production of glycine, yet another manifestation of G6PD deficiency.

This problem seems to have gradually improved since patient started consuming L-Serine which helps improve subjective sleep quality.

SOURCE: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4155056/

 

Patient has complained of mood disorders, experiencing bouts of anger and depression. She was diagnosed with ADHD at 35 years of age. Patient also seems to suffer from depression mostly due to her inability to function because of chronic fatigue, it is taking a heavy toll on her mental health. Also her problem with fluctuating edema is also a cause for depression. She was diagnosed with PCOS which in itself is a source of depression and self anxiety.

Advice:

-Patient should consider attending therapy to deal with the implications of her disease on her mental state.

-Patient could also attend support groups with people suffering from the same problems

-There are ADHD support groups for adults.

GENERAL ADVICE:

1. Patient should preferably start slow and maybe stick to a plan, in regards to physical exercise as one of her goals is to be able to hike.

2. Patient should also stick to a particular set of diet since she has tried a variation of many and now can probably tell what works best for her. She should also be able to avoid food that are potential triggers to her health.

3. Since her mental health is a major concern to her and she is trying to improve, she could stick to an order of things that help minimize her stress. With help from support group, family members and regular physical activities, yoga and meditation, she can certainly improve her mental health.

4. The pharmacological treatment that she is currently following which seems to work should be continued.