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Alpha 1 & Neuropathy

Welcome to the section related to Alpha 1 & Neuropathy which is one of the more serious, and often underdiagnosed effects of Alpha 1 MZ, which has a high impact on the quality of life.

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Neurological issues may be caused by an Alpha 1 Antitrypsin Deficiency.

However it is most likely not a direct impact of the deficiency, but a second / third order effect of the Alpha 1 Antitrypsin deficiency caused by an absorption issue of B12 in the small intestine. This absorption issue may be caused by a shortage of bile acid, resulting in a bacterial imbalance in the small intestine (SIBO), inflammation issues like gastritis or any other offset in your digestive system.

Please note that Neurological issues can also be caused by other inherited diseases or even a combination of those. There is also a Facebook page related to Alpha 1 and Neuropathy.

See Facebook link here; 

B12 Deficiency 

In case of an B12 absorption issue, caused by Alpha 1 Antitrypsin / Liver issues (lack of bile acid, or auto immune / anti-inflammatory issues),  the complex pathway of B12 will be disturbed and results in a B12 deficiency which in turn will results in various neurological issues, which may even result in disablement, and brain issues.


Vitamin B12 deficiency in its early stages is asymptomatic. Diagnosing B12 deficiency is quite a challenge, since very often it is assumed  that an anaemia is a required.

There is a danger that the diagnosis, and B12 deficiency treatment, will be delayed, which may have a large impact on the patient. There is a chance that a lot of people may have chronic symptoms, considering the severity of the disease (Hunt et al., 2014).
 

A good personal story about B12 by Dr John Warren can be read here: 

Treatment of a B12 deficiency  Source; B12 institute https://b12-institute.nl/en/symptoms-of-b12-deficiency/

Current clinical practice is to treat B12 deficiency with hydroxocobalamin in the intramuscular form. Standard initial therapy for patients without neurological involvement is 1000 μg intramuscular (i.m.) in different intervals depending on the neurological issues. (Typical 2x week until there is no improvement).

Maintenance treatment with initial neurological deficit should receive hydroxocobalamin 1000 μg i.m. every 2 months. No further testing for cobalamin levels is required. 
 

Note: the above Treatment recommendations are general and don't take the Effects of Alpha 1 Antitrypsin deficiency and Liver related issues into account, so treatment intervals should always be discussed related to the patient liver status.
 

Note: B12 is processed and stored in the liver, and in case of a liver disease / capacity issue, the storage of B12 in the liver may not cover the intervals between the maintenance doses, and the amount of hydroxocobalamin may be considered to be lower with a shorter interval.

Always discuss the B12 treatment with your doctor taken your Alpha 1 liver condition into account.

Symptoms of a B12 deficiency 

All symptoms listed below may occur. Sometimes one of the symptoms is clearly manifest, sometimes there are multiple, more or less severe, symptoms. It is noted that patient condition has been gradually deteriorating over the years.

General symptoms of a B12 deficiency

  • exhaustion (strange ‘drained feeling), general unwellness

  • dizziness (also in upright position), fainting

  • headache, migraine

  • loss of hair, prematurely turning gray

  • brittle nails

  • increased susceptibility to infection (urinary system, sinuses)

  • shortness of breath or COPD-like phenomena (especially upon exertion), fast high intake of breath

  • hoarseness, signs of paralysis in vocal cords (seldom)

  • muscle weakness and pains

  • increased pulse (tachycardia)

  • palour

  • tinnitus

  • sensitiveness to cold (especially of hands and feet)

  • feverish symptoms, feelings of coming down with the flu

  • misunderstood fever
     

Neurological symptoms of a B12 deficiency


Neuropsychiatry (from the brain)

  • cognitive decline

    • memory (especially short term memory)

    • concentration problems

    • problems in finding the proper words (aphasia)

    • desorientation

  • (mild to severe) depression, moodswings, suicidal tendencies, lability (weeping a lot), quickly irritated, outbursts of anger

  • anxiety, delirium, delusions, paranoia, manic behaviour, hallucinations, psychosis, catatonia, bipolar disorder, obsessive-compulsive personality disorder

  • altered mental condition, personality changes, sense of alienation, brainfog

  • dementia (prefrontal cortex), Alzheimer-like symptoms
     

Neurological (from the spinal cord, a.o. subacute combined degeneration of the spinal cord)

  • tingling in hands and feet

  • disturbed perception of the skin, numbness of the skin (paresthesia)

  • spastic and instability of gait (ataxia), (e.g. coordination of walking movement, people may knock objects from tables, walk into doorposts; clumsiness)

  • muscle weakness arms and legs (collapsing)

  • symptoms of paralysis

  • spasticity

  • abnormal reflexes

    • positive Romberg test

    • positive signs of Lhermitte

    • Babinski’s reflex

  • Parkinson-like symptoms

  • unvoluntary movements
     

Somatic nervous system (perception senses from the eyes, ears, skin (tactile) and sense of smell )

  • tingling hands and feet

  • numbness of hands and feet (feeling as if they are ‘asleep’)

  • muscle tremors on the skin (e.g. eyelid)

  • reduced capability to perceive the body position in a room

  • blurred vison (focus decreases), optic atrophia

  • infection and degeneration optic nerve

  • hearing problems, distortion, tinnitus

  • reduced sense of smell, taste, touch

Autonomous nervous system 

  • pattern of disturbed sleep rythm (unable to fall asleep, or to sleep throughout the night)

  • (harmless) cardiac arrythmias (sinusnode), rapid heartbeat

  • urinal or faecal incontinence

  • too low blood pressure (postural of orthostatic hypotension)
     

Digestive tract

  • lack of appetite, (unexplained) loss of weight 

  • nausea, throwing up, bloating

  • abdominal pain 

  • glossitis (red, sore, smooth tongue, sometimes infected)

  • burning mouth syndrom

  • inflammation of the oral mucosa (stomatitis)

  • often mouth ulcers

  • often bleeding gums

  • (sudden) diarrhea or constipation (sometimes alternating)
     

Gynaecology

  • atrophy of the vaginal mucosa (resulting in sore, sensitive vaginal wall)

  • chronic urinary tract and vagina infections

  • infertility (men and women)

  • repeated miscarriage

  • premature births

  • false positive PAP smear results (false pre-cervical cancer test results)

  • menstruation problems (heavy bleeding or missing periods)
     

Other

  • back pains (lower extremities)

  • restless legs

  • hyperpigmentation of the skin or mucus membranes

  • vitiligo

  • pains in the joints

  • infected mucosa

  • allergies

  • angina pectoris

  • osteoporosis

  • unexplained chronic cough, hoarseness
     

Symptoms children, adolescents

  • behavior problems (mild to severe)

  • depression (mild to severe)

  • cognitive deterioration (memory and concentration problems)

  • nausea, no appetite

  • growth defects

  • absence of smiling or laughing

  • involuntary movement

  • anorexia

In 2014 Hooper et al. described a vitamin B12 deficiency related symptomatology  (Hooper et al., 2014). In a survey with a response rate of approximately one thousand patients in England, published in The British Journal of Nursing, patients with a B12 deficiency diagnosis prove to have a large variation of symptoms.
 

The most general symptoms

  • 96% of patients show (unusual) fatigue

  • 87% wake up tired

  • 34% have glossitis

  • 30% have loss of hair, mouth ulcers or blurred vision
     

Neurological symptoms

  • 78% suffer from memory loss

  • 75% show a lack of concentration

  • 73% experience shortness of breath

  • 66% experience clumsiness or ataxia

  • 59% have dizzy spells

  • 56% have arrythmias

  • 50% have aphasia
     

All symptoms listed above are included in a survey by Stichting B12-tekort (Visser et al., 2013). This survey has a response rate of more than 1500 and gives a clear insight into the clinical phenomena and delays in recognition and treatment of B12 deficiency. Both surveys show a significant overlap between fibromyalgia, ME/CFS and somatic unexplained physical symptoms.
 

Present-day cutting points and standard values can easily lead to misdiagnosis (Carmel, 2011; Iqtidar & Chaudary, 2012). Based on her practitioner experience and joined by Jeffrey Stuart M.D, the American nurse Sally Pacholok wrote an accessible book about practice bottlenecks and case studies, underpinned by lots of references (Pacholok, 2014 edition 2).

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