CASE DISCUSSION
A Case of 42 Year Old Female with Multiple Health Events Since Birth
PRESENTED BY : SHALVI JAIN
NROLL NO. 149
8TH SEMESTER
I’ve been been given this case to solve in an attempt to understand the topic of ‘patient clinical data analysis’ to develop my competency in reading and comprehending clinical data including history, clinical findings, investigations and come up with a diagnosis and treatment plan.
Can’t find the entire real patient clinical problem in this link here
https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1
Following is my analysis of the patient’s problems
CHEIF COMPLAINTS
The problem is in the order of priority are
1) Swelling of face and abdomen
2) Headaches
3) Left-sided weakness
4) Sleep deprivation
5) Exercise induced fatigue
6) Oliguria
The reasons for the above problem are
1) SWELLING OF FACE AND ABDOMEN
The patient gave a history of swelling of face and abdomen since she was one year and continues on and off till date
The trigger factors being emotional stress ,exercise, smoking or eating the wrong thing
The swelling is mainly in the reason of face. neck and abdomen
Gave a history of neonatal jaundice, shortness of breath dark coloured urine which suggest a possible haemolytic disorder
It might be a part of haemolytic crisis occurring in patients due to G6DP deficiency for which the patient was diagnosed last year
G6DP DEFICIENCY
G6PD deficiency is a genetic abnormality that results in an inadequate amount of glucose-6-phosphate dehydrogenase (G6PD) in the blood. This is a very important enzyme (or protein) that regulates various biochemical reactions in the body.
G6PD is also responsible for keeping red blood cells healthy so they can function properly and live a normal life span. Without enough of it, red blood cells break down prematurely. This early destruction of red blood cells is known as
hemolysis, and it can eventually lead to
hemolytic anemia.
Hemolytic anemia develops when red blood cells are destroyed faster than the body can replace them, resulting in reduced oxygen flow to the organs and tissues. This can cause fatigue, yellowing of the skin and eyes, and shortness of breath.
In people with G6PD deficiency, hemolytic anemia can occur after eating fava beans or certain legumes. It may also be triggered by infections or by certain drugs, such as:
- antimalarials, a type of medication used to prevent and treat malaria
- sulfonamides, a medication used for treating various infections
- aspirin, a drug used for relieving fever, pain, and swelling
- some nonsteroidal anti-inflammatory medications (NSAIDs)
Most people with G6PD deficiency usually don't experience any symptoms. However, some may develop symptoms when they’re exposed to the medication, food, or infection that triggers the early destruction of red blood cells. Once the underlying cause is treated or resolved, symptoms of G6PD deficiency usually disappear within a few weeks.
Symptoms of G6PD deficiency can include:
- rapid heart rate
- shortness of breath
- urine that is dark or yellow-orange
- fever
- fatigue
- dizziness
- paleness
jaundice, or yellowing of the skin and whites of the eyes
CAUSE OF G6DP DEFICIENCY
G6PD deficiency is a genetic condition that is passed along from one or both parents to their child. The defective gene that causes this deficiency is on the X chromosome, which is one of the two sex chromosomes. Men have only one X chromosome, while women have two X chromosomes. In males, one altered copy of the gene is enough to cause G6PD deficiency.
In females, however, a mutation would have to be present in both copies of the gene. Since it’s less likely for females to have two altered copies of this gene, males are affected by G6PD deficiency much more frequently than females.
RISK FACTORS
You may have a higher risk of having G6PD deficiency if you:
- are male
- are African-American
- are of Middle Eastern descent
- have a family history of the condition
Having one or more of these risk factors doesn’t necessarily mean that you will have G6PD deficiency. Talk with your doctor if you’re concerned about your risk for the condition.
Investigations
Your doctor can diagnose G6PD deficiency by performing a simple blood test to check G6PD enzyme levels.
TREATMENT
Treatment for G6PD deficiency consists of removing the trigger that is causing symptoms.
If the condition was triggered by an infection, then the underlying infection is treated accordingly. Any current medications that may be destroying red blood cells are also discontinued. In these cases, most people can recover from an episode on their own.
Once G6PD deficiency has progressed to hemolytic anemia, however, more aggressive treatment may be required. This sometimes includes oxygen therapy and a blood transfusion to replenish oxygen and red blood cell levels.
You will need to stay in the hospital while receiving these treatments, as close monitoring of severe hemolytic anemia is critical for ensuring a
L-serine reversibly converts to Glycine which is an inhibitory neurotransmitter and helps to induce sleep
2) HEADACHES
The patient complains of severe headaches started at the age of two and became worse with menses at age of 14 .They are preceeded by Aura mainly visual. At the age of 15 they were so severe that she couldn’t get out of bed. By Age of 34, episodes and severity of headaches Intensified and aura intensify to a point of completely out of vision. Description of Aura- start as a small flicker in the upper left and eventually becomes a crescent that covers the entire centre of vision
MIGRAINE
Migraine can cause severe throbbing pain or a pulsing sensation, usually on one side of the head. It's often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. Migraine attacks can last for hours to days, and the pain can be so severe that it interferes with your daily activities.
For some people, a warning symptom known as an aura occurs before or with the headache. An aura can include visual disturbances, such as flashes of light or blind spots, or other disturbances, such as tingling on one side of the face or in an arm or leg and difficulty speaking.
Aura
For some people, aura might occur before or during migraines. Auras are reversible symptoms of the nervous system. They're usually visual, but can also include other disturbances. Each symptom usually begins gradually, builds up over several minutes and lasts for 20 to 60 minutes.
Examples of migraine aura include:
- Visual phenomena, such as seeing various shapes, bright spots or flashes of light
- Vision loss
- Pins and needles sensations in an arm or leg
- Weakness or numbness in the face or one side of the body
- Difficulty speaking
- Hearing noises or music
- Uncontrollable jerking or other movements
Attack
A migraine usually lasts from four to 72 hours if untreated. How often migraines occur varies from person to person. Migraines might occur rarely or strike several times a month.
During a migraine, you might have:
- Pain usually on one side of your head, but often on both sides
- Pain that throbs or pulses
- Sensitivity to light, sound, and sometimes smell and touch
- Nausea and vomiting
Migraine triggers
There are a number of migraine triggers, including:
Hormonal changes in women. Fluctuations in estrogen, such as before or during menstrual periods, pregnancy and menopause, seem to trigger headaches in many women.
Hormonal medications, such as oral contraceptives and hormone replacement therapy, also can worsen migraines. Some women, however, find their migraines occurring less often when taking these medications.
- Drinks. These include alcohol, especially wine, and too much caffeine, such as coffee.
- Stress. Stress at work or home can cause migraines.
- Sensory stimuli. Bright lights and sun glare can induce migraines, as can loud sounds. Strong smells — including perfume, paint thinner, secondhand smoke and others — trigger migraines in some people.
- Sleep changes. Missing sleep, getting too much sleep or jet lag can trigger migraines in some people.
- Physical factors. Intense physical exertion, including sexual activity, might provoke migraines.
- Weather changes. A change of weather or barometric pressure can prompt a migraine.
- Medications. Oral contraceptives and vasodilators, such as nitroglycerin, can aggravate migraines.
- Foods. Aged cheeses and salty and processed foods might trigger migraines. So might skipping meals or fasting.
- Food additives. These include the sweetener aspartame and the preservative monosodium glutamate (MSG), found in many foods. Risk factors
Several factors make you more prone to having migraines, including:
- Family history. If you have a family member with migraines, then you have a good chance of developing them too.
- Age. Migraines can begin at any age, though the first often occurs during adolescence. Migraines tend to peak during your 30s, and gradually become less severe and less frequent in the following decades.
- Sex. Women are three times more likely to have migraines.
- Hormonal changes. For women who have migraines, headaches might begin just before or shortly after onset of menstruation. They might also change during pregnancy or menopause. Migraines generally improve after menopause. INVESTIGATIONS
- Physical Exam
- Sleep habits
- Sleep Study
- EEG
TREATMENT
L- serine to induce sleep
Triptans (5HT1B/ 1D agonists) are used
New modality of treatment ERENUMAB :It is a monoclonal antibody against calcitonin gene
regulated peptide
Dihydroergotamines
Anti nausea medications
3) LEFT SIDED WEAKNESS
Patient currently complains of frequent falls to the left. left foot and left hand started giving out.
Unbearable feeling of spinning when turned to left
Numbness of left hand and feeling of someone pouring ice water over left hand faced during migraine attacks
Sometimes complete loss of function on the left side
Severe cramping of left-arm
This can be due to
1) AMPD1 Deficiency
2) Hemiplegic migraine
AMPD1 DEFICIENCY
Adenosine monophosphate deaminase 1 (AMPD1) deficiency is an inherited condition that can affect the muscles used for movement (skeletal muscles). Many people with AMPD1 deficiency do not have symptoms. People who do have symptoms typically have muscle pain (myalgia), cramping, and weakness after exercise, and often get tired faster than others. Some affected people appear to have more severe symptoms. AMPD1 deficiency is caused by changes (
mutations) in the
AMPD1 gene and is inherited in an
autosomal recessive manner.
[1]
Other types of AMPD deficiency include the acquired type (due to a muscle or joint condition), and the coincidental inherited type (due to both mutations in the
AMPD1 gene
and a separate muscle or joint disorder).
Symptoms
In many people, adenosine monophosphate deaminase 1 (AMPD1) deficiency does not cause any symptoms. The reasons for this are unclear. People who do have symptoms typically have muscle pain (myalgia) or weakness after exercise or prolonged physical activity. They often get tired more quickly and stay tired longer than others. Some people have more severe symptoms, but it is unclear whether these symptoms are due solely to AMPD1 deficiency, or additional factors
SYMPTOMS
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| |
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| Exercise-induced myalgia |
Exercise-induced muscle pain
[ more ] | |
| Limb muscle weakness |
Limb weakness
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| Muscle spasm | |
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| 5%-29% of people have these symptoms |
| Generalized hypotonia |
Decreased muscle tone
[ more ] |
|
Cause
Adenosine monophosphate deaminase 1 (AMPD1) deficiency is caused by changes (mutations) in the AMPD1 gene. This gene gives the body instructions to make an enzymecalled AMP deaminase, which plays a role in producing energy in skeletal muscle cells. Mutations in the AMPD1 gene disrupt the function of AMP deaminase, which impairs the ability of muscle cells to make energy. This lack of energy can lead to the muscle problems associated with AMPD1 deficiency.
Other types of AMPD deficiency are known as the acquired type (due to a different muscle or joint condition), and the coincidental inherited type (due to both mutations in the AMPD1 gene and a separate muscle or joint disorder).
Inheritance
This condition is inherited in an autosomal recessive manner, which means that both copies of the responsible gene in each cell must have changes (mutations) for a person to be affected. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene and are referred to as carriers. Carriers are not affected and typically do not have signs and symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% chance to be unaffected and not be a carrier.
There are many people who have mutations in both copies of the gene responsible for AMPD1 deficiency, but do not have any signs or symptoms (are unaffected). The reasons for this are unclear.
INVESTIGATIONS
Complete neurological examination
Laboratory investigations: bloodwork up for infections, immune related diseases et cetera
Treatment
Although there is no cure for AMP1 deficiency, there may be ways to manage symptoms. One possibility is the use of a sugar called D-ribose. This sugar is easily absorbed in digestive system and rapidly cleared by metabolic pathways. It may provide an additional source of energy for muscle' however, the helpful effects of D-ribose are short-term
4) SLEEP DEPRIVATION
Since the patient was an year old sleep was always a problem. It is never more than 23 hours a day with nearly no REM sleep at all
This might be due to G6PD deficiency or AMPD1 deficiency or low NADPH levels
Suggested TREATMENT
L-Serine acts similar to GLYCINE and improve the quality of sleep
5) EXERCISE INDUCED FATIGUE
The patient complains of excessive fatigue and more severely after exercise
1) Due to G6PD deficiency, decrease levels of NADPH leads to increased intracellular GSH which in turn increases cell vulnerability to oxidative stress As heart and skeletal muscle have low levels of catalase and superoxidase desmutase they rely mainly on GSH for detoxification of free radicals hence oxidative stress causes myofiber disruption and loss of intracellular proteins leading to post workout sourness
2) ANAEMIA
3) AMPD1 deficiency also causes decreased ATP And muscle weakness
TREATMENT
Ribose helps to recover ATP levels and has improved the functional ability of the patient
6) OLIGURIA
The patient complaints of decreased urination which increases during fasting
This might possibly be due to G6PD deficiency or due to deficiency of NADPH and ATP as there is increased loss of ions which both are needed for active absorption of ions
Hence there is decrease urine output and increased urge to take salts due to their continuous loss
OTHER PROBLEMS OF THE PATIENT
1)Hair loss
2)Degenerative spine, hip and knee problems
3) Methylene tetrahydrofolate reductase mutation (MTHFR) - Increased Homocysteine levels, decreased folate and B12 levels
Associated with : digestive issues, migraines ,depression, anxiety, bipolar disease, peripheral neuropathy and scoliosis Can be treated by folate, vitamin B6, B12 supplements Methionine and 5 – MTHF
4) Multiple ovarian cysts diagnosed with PCOS at age of 22
5) Recurrent infections
6) Cervical degeneration and scoliosis seen on x-ray
7) Ectopic pregnancy at age of 21
8) WNK1 mutation- It is a share in the serine threonine kinase which helps in regulation of cation – chloride cotransporters which is associated with familial hyperkalemic hypertension syndrome and causes increased tolerance to pain
