[38F] With sudden leg numbness, dizziness, and systemic concerns

Patient Description

A 38-year-old female presents with sudden onset of numbness on the lateral side of her right leg, extending from the shin to the foot, lasting for over a week. The numbness is described as a 90% loss of sensation without pain, accompanied by mild ankle weakness and a feeling of imbalance in the affected leg. She also reports worsening constipation, intermittent dizziness, heart palpitations, and extremely cold hands and feet, with occasional discoloration suggestive of Raynaud’s phenomenon. Additionally, she bruises easily, particularly on her thighs, and has a history of stretchy skin and hyperflexible fingers. Her medical history includes migraines with aura and a family history of autoimmune diseases (father with type 1 diabetes and Hashimoto’s hypothyroidism, and sister with Sjögren’s syndrome, rheumatoid issues, and a blood clot post-COVID). A hematology workup previously revealed low Protein C levels, though no significant clotting disorder was diagnosed. She also has genetic findings of PAI-1 4G/4G polymorphism and MTHFR mutation, managed with methylated B vitamins. Medications include phentermine 15mg, propranolol 10mg at bedtime, magnesium glycinate 500mg, and Zepbound. The patient denies recent injuries, surgeries, or travel. She has not experienced significant swelling, pain, or persistent vision changes, though she notes brief episodes where her eyes fail to focus while using a computer. There is no history of seizures, persistent headaches, or systemic weakness. Symptoms like bruising and cold extremities have been lifelong, while dizziness, palpitations, and worsening constipation are new. Differential diagnoses include peripheral nerve compression (e.g., peroneal nerve entrapment or lumbar radiculopathy), connective tissue disorders (e.g., Ehlers-Danlos Syndrome), Raynaud’s phenomenon, autonomic dysfunction, and autoimmune conditions such as Sjögren’s syndrome or lupus. Bloodwork to evaluate clotting function, autoimmune markers, and homocysteine levels may be helpful, alongside imaging studies if neurological symptoms persist or worsen.

Arora's Assessment

What might be happening

Your symptoms—right leg numbness, mild weakness, dizziness, constipation, palpitations, cold extremities, easy bruising, and stretchy skin—are likely related to multiple underlying issues. Based on your history and family background, here are the most likely explanations:

1. Peripheral Nerve Compression or Neuropathy

The sudden onset of numbness and mild weakness in your right leg, especially on the lateral side, suggests possible nerve compression or neuropathy. This could be due to:
- Peroneal Nerve Entrapment: Compression of the nerve running along the outer side of your leg.
- Lumbar Radiculopathy: A pinched nerve in your lower back, even without back pain.
Testing like an MRI or nerve conduction studies may be needed to confirm this.

2. Connective Tissue Disorder (e.g., Ehlers-Danlos Syndrome)

Your stretchy skin, easy bruising, and cold extremities align with symptoms of Ehlers-Danlos Syndrome (EDS), a connective tissue disorder affecting collagen. EDS can also cause autonomic dysfunction, which may explain your dizziness and palpitations. While rare, this condition warrants evaluation by a geneticist or rheumatologist.

3. Raynaud’s Phenomenon

Your cold extremities and discoloration suggest Raynaud’s phenomenon, where blood flow to your hands and feet is reduced in response to cold or stress. This could be a standalone condition or part of a broader autoimmune or connective tissue disorder.

4. Autonomic Dysfunction

Your dizziness, palpitations, and cold extremities may point to autonomic dysfunction, which affects involuntary functions like heart rate and blood vessel constriction. This could overlap with connective tissue disorders or genetic factors.

5. Genetic Factors

Your PAI-1 4G/4G polymorphism and MTHFR mutation may increase your risk for clotting and cardiovascular issues. While these don’t directly explain your symptoms, they could interact with other conditions, especially given your family history of autoimmune diseases and blood clots.

6. Constipation

Chronic constipation may be related to autonomic dysfunction, connective tissue disorders, or dietary factors. It could also be worsened by medications like phentermine or underlying nerve issues affecting bowel motility.

What you can do

Leg Numbness and Weakness

Seek medical care: Consult a neurologist or orthopedic specialist to evaluate for nerve compression or neuropathy. Imaging (e.g., MRI) or nerve conduction studies may be needed.
At home:
- Avoid prolonged pressure on the affected leg (e.g., crossing legs or tight socks).
- Stretch and move gently to improve circulation.
- Track your symptoms using MDandMe to identify triggers or patterns.

Cold Extremities and Easy Bruising

See a doctor: Discuss Raynaud’s phenomenon and connective tissue concerns with a rheumatologist or vascular specialist. Testing for autoimmune conditions like Ehlers-Danlos Syndrome or Sjögren’s syndrome may be helpful.
At home:
- Keep your hands and feet warm with gloves and socks.
- Avoid sudden temperature changes.
- Use MDandMe to journal episodes of discoloration or bruising.

Dizziness and Palpitations

Seek evaluation: A cardiologist or neurologist can assess for autonomic dysfunction or other causes. Blood pressure monitoring may be helpful.
At home:
- Stay hydrated and avoid sudden changes in position (e.g., standing up quickly).
- Limit caffeine and alcohol, which can worsen palpitations.
- Track episodes of dizziness and palpitations using MDandMe.

Constipation

Dietary changes:
- Increase fiber intake (e.g., fruits, vegetables, whole grains).
- Drink plenty of water throughout the day.
Lifestyle:
- Incorporate regular physical activity, like walking, to stimulate bowel movement.
- Consider over-the-counter stool softeners or fiber supplements if needed.
Track progress: Use MDandMe to monitor changes in bowel habits and identify patterns.

What you should look out for

Seek medical care urgently if you experience:

Worsening leg weakness or difficulty walking.
Loss of bowel or bladder control.
Severe dizziness leading to fainting or falls.
Persistent palpitations or chest pain.
Signs of blood clots, such as swelling, redness, or pain in your legs.

Your symptoms are complex and likely involve multiple underlying conditions. While none of these seem immediately life-threatening, addressing them promptly can prevent complications and improve your quality of life. Let me know if you'd like to explore any of these concerns further!

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28 d ago