case of a 42-year-old woman with multiple health events since birth

   Rumi Shaik

   r.no- 201, 8th sem, final year-II

     

This is an online E log book to discuss our patient's de-identified health data shared after taking his/her/guardian's signed informed consent. Here we discuss our individual patient's problems through series of inputs from available global online community of experts with an aim to solve those patient's clinical problems with collective current best evidence based inputs. This E log book also reflects my patient-centered online learning portfolio and your valuable inputs on the comment section. 

This case is given to me as part of online learning portfolio in order to understand the concept of  "patient clinical data analysis" to develop competency levels in reading and comprehending clinical data including history, clinical findings, investigations,  and come up with a diagnosis and treatment plan.

The original blog with the  patient's history, clinical findings and details can be found here 

Following is my analysis of the patient's condition :

The problems in order of priority I found are :

1. Hemolytic Anaemia
2. Headaches and cognitive functioning
3. Weakness and Fatigue on simple exertion or exercise
4. Swelling
5. Oliguria
6. Sleep disturbances

1.Hemolytic Anaemia

The patient is a known case of G6PD deficiency, and the most common medical problem associated with glucose-6-phosphate dehydrogenase deficiency is hemolytic anemia, which occurs when red blood cells are destroyed faster than the body can replace them.

   

 This type of anemia leads to paleness, yellowing of the skin and whites of the eyes (jaundice)(patient had a history of Jaundice before she was an year old)

dark urine,

fatigue, 

shortness of breath, ("Breathing is always struggle for me")

and a rapid heart rate.

  

  In people with glucose-6-phosphate dehydrogenase deficiency, hemolytic anemia is most often triggered by bacterial or viral infections or by certain drugs (such as some antibiotics and medications used to treat malaria).-----> ( she has severe reaction to sulfa drugs)

 Hemolytic anemia can also occur after eating fava beans.---> ( patient experienced swelling, high blood pressure, and speech and neurological issues when she has fava seeds)

Dark urine in the patient (which is mainly observed  following exercise, infections or swelling episodes in the patient)----->can it be attributed to Hemoglobinuria following acute episodic hemolytic anemia because of increased oxidative stress? 

    "G6PD deficiency leads to impaired regeneration of reduced glutathione, an important   antioxidant, which makes RBC more susceptible to oxidative stress, and can result in episodic hemolytic anaemia." ( reference )

 In presence of G6PD deficiency, controlling exposure to triggers of oxidative stress can probably reduce the episodes of hemolytic anemia and in turn decrease the incidence of associated clinical features mainly shortness of breath and fatigue.

Suggested treatment:

     * Avoid triggers of oxidative stress

     * Intake of Antioxidants

     * Inclusion of Fructose in diet 

     * Oxygen therapy and Blood transfusion (if needed)

2. Headaches and Cognitive functioning

 

History of  headaches since  she was 4 years old , it got severe with age and got worse during menses(14 years) . 

Since 32-years-old, she has been experiencing Migraine with aura at 34-years-old, 

had the worst episode of headache ever , her aura intensified  with loss of vision(<2hrs),

the following day she was stuttering and was unable to speak.

    Patient also had history of zoning out, temper tantrums(usually precede migraine) ,          anxiety, anger issues, potential sensory disorder, in her young age and she was 

diagnosed with ADHD/ Autistic spectrum at 25 yrs.

Stuttering/ Memory loss and loss of function on left side continued appearing for months 

Possible causes:

    Genetics- 

       1. ANKK-1 -  higher risk of ADHD

       2. DIO2       -  3.75X bipolar disorder

       3. BACE 1  -  2 X ALZ risk  

Migraine with Aura - potential Hemiplegic migraine 

                                   patient has been taking Triptans  for it 

Other possible causes:

• hormonal changes : patient has PCOS, history of an ectopic pregnancy 
• stress : which also causes swelling episodes in the patient 
• sleep changes : lack of sleep can trigger migraines in some            

 

           "Cognitive symptoms are frequent in the premonitory phase and headache phase of a migraine attack and may also persist in the      postdrome. Some migraineurs also complain of cognitive symptoms        outside migraine attacks. Acute attack treatments are not always successful  at relieving cognitive symptom " (reference) 

suggested plan of action 

• Cognitive behavioral therapy
• Whole genome sequencing for further investigation 

 

3.Weakness and Fatigue 

Patient has been experiencing fatigue and immense weakness following simple exertion

and easily prone to fractures and sprains.  

Possibly due to :

1.  Hemolytic anaemia due to G6PD deficiency (triggered bt oxidative stress following exercise)
2.  AMPD 1 deficiency - exertional muscle pains, cramps, fatigue , (Rhabdomyolysis ? )
3. Fibromyalgia  (her mother died because of it & the patient is eight times more likely  to have the disorder)
4. Osteoporosis - for frequent bone fractures ( high homocysteine because of MTHFR  mutation can be a risk factor) 
5. Chronic fatigue syndrome
6. Asthenia  

 Investigations required:

     * A-2-tiered rhabdomyolysis panel 

     * EMG - to evaluate muscles' electrical activity 

Treatment:

Patient has been taking Ribose (2gm/every hour) which is helping her in carrying out daily activities.

      

Therapy :

    *graded exercise to prevent excess oxidative stress and fatigue 

    *cognitive training 

    

 4.  Swelling 

Patient has had swelling episodes (mainly face and abdomen) since she was an infant

swelling occurs suddenly and can occur after exercise or intake of certain foods like Fava seeds or when exposed to smoke and fluctuates frequently.

one week apart

one day apart

Possibilities :

         

    1. can be Anasarca -main causes: *Liver failure,(h/o poor liver function) *Kidney failure        (pt. had kidney infections since childhood) *Right sided heart failure (could be familial )

    2. swelling after exercise can be due to poor response to stress or  due to  increased                    release of cortisol 

    3. sudden swelling can be due to large intake of salt 

   4. swelling on taking carbohydrates - carbohydrate intolerance(?)

                        Brief statement about patient's unusual salt intake:

                                 Salt has been part of diet her entire life, starting with salty broth as an                                   infant to having 2-4 tbs of salt daily as an adult. There is increased craving for salt when she is sick or had one of her swelling episode. 

                                Need further investigation to enquire about this response mechanism of                                  her body and if it a cause for her kidney malfunction and her body swelling indirectly.

       

Treatment :

Cimetidine (400 mg)  has been helping in reducing swelling

Suggestions:

  * limited exercise

  * Avoid exposure to smoke

  * Avoid eating Fava seeds or any food she has reaction to

  * Avoid stressors

5. Oliguria 

        

    Patient had history of decreased or very minimal urination , increasing only when fasting, following exercise or days after swelling episode when she experiences polyuria.

 

    Once, after  a 100 mile high, she was hospitalized for kidney infection and pneumonia with dark urine.

    She had similar complaints of dark urine following swelling episode after consuming Fava seeds.  

     G6PD deficiency due to which there is decreased NADPH and ATP can be possibly responsible for decreased urine output or dark colored urine 

 "Although the fact that acute renal failure is an uncommon complication in G6PD deficiency, its consequences remain serious, involving the vital and renal prognosis. Renal lesions occur mainly due to acute tubular necrosis and tubulointerstitial nephritis.       We believe that early diagnosis of  G6PD deficiency and essentially preventive treatment by expulsion of oxidizing products, such as drugs and fava beans, can help avoid dramatic   complications, particularly those of acute kidney failure"  (reference)

Other possiblity: 

 Dark urine following heavy exercise - can it be Post-Exertional Myoglobinuria 

                                                                 ( need further evaluation and investigation )

6.Sleep disturbances:

   Patient's sleep pattern is abnormal since her birth

 

   Only 2-4 hrs of sleep a day with no REM sleep.

   But since she started taking L-Serine(20 gm/every night) , sleep has been improved and         she's able to urinate and have thirst.

Other health events that need clinical analysis and further investigations:

• Rashes and why Warts and EBV are reactivate
• ulcers in mouth and vagina 
• Blood bruise ( possible tendon separation from bone which led to limping for an year)
• Hair loss ( head and eyelash)
• no sweating
• cervical degeneration and scoliosis
• unusual salt craving and why is it her body response mechanism
• left jaw pain up into head and imbalance on left side 
• intolerance to most foods ( amid testing negative in allergy tests) 

Current condition of patient:

(as updated in May, 2020)

Diagnosed with Behcet's ---->( would explain ulcers in her mouth and genital area)

 doctor suggested to take Colchicine but can't follow through due to G6PD deficiency as it can lead to hemolytic crisis.

patient has been taking Nattokinase , to which she showed good results 

sleep is great unless busy with work

no aura migraine or migraine - only headaches when sick

headaches, sever vomitings and diarrhea observed for 3 weeks in march

occasional knee and hip joint pains and cervical neck pain

still have swelling to stressors

  

 

Reference :

1. Wikipedia 

2. Dr. Avinash Kumar sir's blog ( link here )