[30F] With numbness, chronic joint pain, and vision issues

Patient Description

A 30-year-old female presents with numbness in the arms and legs that started in one hand about a year ago and has gradually spread to the midback. The numbness begins as tingling and can progress to a total loss of sensation, which is somewhat relieved by compression. The patient experiences chronic joint pain, frequent joint dislocations, and occasional blurriness in the left eye that clears up after a minute or two, which has occurred four times this month. Additional symptoms include headaches, a persistent cough, frequent recurrent infections, poor sleep, and fatigue. Despite these symptoms, all lab results have returned normal. An MRI of the spine revealed a bulging disk, but the orthopedic specialist indicated that it does not explain the numbness and would typically cause hand or arm pain if it were the issue. The patient also reports occasional dropping of objects without apparent cause.

Arora's Assessment

What might be happening

Based on the symptoms you've described, here are some possible explanations:

Numbness in Arms and Legs, Chronic Joint Pain, and Frequent Joint Dislocation

Ehlers-Danlos Syndrome (EDS): This is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Symptoms can include joint hypermobility, frequent joint dislocations, chronic pain, and numbness due to nerve compression.
Peripheral Neuropathy: This condition involves damage to the peripheral nerves and can cause numbness, tingling, and pain in the arms and legs. It can be caused by various factors, including diabetes, infections, and autoimmune diseases.

Occasional Blurriness in Left Eye

Optic Neuritis: This is an inflammation of the optic nerve that can cause temporary vision loss or blurriness. It is often associated with multiple sclerosis (MS) but can occur independently.
Transient Ischemic Attack (TIA): Sometimes referred to as a "mini-stroke," a TIA can cause temporary vision changes, including blurriness or loss of vision in one eye.

Headaches and Cough That Won't Go Away

Chronic Sinusitis: This condition can cause persistent headaches and a chronic cough due to post-nasal drip.
Allergies or Asthma: These can also cause a chronic cough and may be associated with headaches due to sinus pressure.

Frequent Recurrent Infections, Poor Sleep, and Fatigue

Immune System Disorders: Conditions like common variable immunodeficiency (CVID) can lead to frequent infections, fatigue, and poor sleep.
Chronic Fatigue Syndrome (CFS): This condition is characterized by extreme fatigue that doesn't improve with rest and can be accompanied by sleep disturbances and frequent infections.

What you can do

Numbness in Arms and Legs

See a Neurologist: Given the progression and severity of your symptoms, it's important to consult a neurologist for a thorough evaluation. They may recommend nerve conduction studies or additional imaging.
Physical Therapy: A physical therapist can help you with exercises to improve strength and mobility, which may alleviate some of your symptoms.

Blurriness in Left Eye

See an Ophthalmologist: An eye specialist can perform a detailed examination to determine the cause of your vision changes. They may recommend imaging studies like an MRI or CT scan.
Monitor Symptoms: Keep a journal of when these episodes occur, how long they last, and any associated symptoms. This information can be valuable for your healthcare provider.

Chronic Pain and Joint Dislocation

Rheumatologist Consultation: A rheumatologist can evaluate you for conditions like Ehlers-Danlos Syndrome or other connective tissue disorders.
Joint Protection: Use braces or supports to stabilize your joints and prevent dislocations. Avoid activities that put excessive strain on your joints.

Chronic Cough and Headaches

Allergy Testing: Consider seeing an allergist to rule out allergies as a cause of your chronic cough.
ENT Specialist: An ear, nose, and throat specialist can evaluate you for chronic sinusitis or other conditions that might be causing your symptoms.

Frequent Infections, Poor Sleep, and Fatigue

Immunologist Consultation: An immunologist can perform tests to evaluate your immune system function and recommend appropriate treatments.
Sleep Hygiene: Practice good sleep hygiene by maintaining a regular sleep schedule, creating a restful environment, and avoiding stimulants before bedtime.

What you should look out for

Given the complexity and severity of your symptoms, it's important to seek medical care as soon as possible. Reasons to seek care even more urgently include:

Sudden Vision Loss: If you experience sudden or complete vision loss, seek emergency medical attention.
Severe Weakness or Paralysis: If you develop severe weakness or paralysis in any part of your body, go to the emergency room immediately.
Severe or Unexplained Pain: If you experience severe or unexplained pain, especially if it is accompanied by other symptoms like fever or swelling, seek medical attention.

Remember, while I can provide information and suggestions, it's crucial to consult with real healthcare professionals for a formal diagnosis and treatment plan. You can also use MDandMe to journal your symptoms, track progress, get insights, and share longitudinal medical notes with your provider.