obsolete acroparesthesia syndrome

Acroparesthesia Syndrome: A Historical Perspective

Acroparesthesia syndrome, also referred to as the "syndrome of partial thenar atrophy," was a condition characterized by subjective sensations such as numbness, tingling, prickling, and reduced sensation in the extremities (fingers and toes) [10][12]. This symptom was often reported by patients without any accompanying physical signs.

Early Descriptions

The first short descriptions of patients with nocturnal and early morning paresthesias, numbness, pain, and weakness in the hands, were documented from the middle of the nineteenth century onward [10][12]. These early accounts laid the groundwork for further research into the condition.

Association with Carpal Tunnel Syndrome

Acroparesthesia syndrome was also linked to the discovery of idiopathic carpal tunnel syndrome (CTS) [10][12]. The historical development of acroparesthesia and its contribution to the understanding of CTS is a significant aspect of medical history.

Key Features

The key features of acroparesthesia syndrome included:

• Subjective sensations such as numbness, tingling, prickling, and reduced sensation in the extremities
• No accompanying physical signs
• Association with carpal tunnel syndrome

Relevance to Modern Medicine

While acroparesthesia syndrome is no longer a recognized medical condition, its historical significance lies in its contribution to our understanding of idiopathic carpal tunnel syndrome. The study of this condition has led to improved diagnostic and treatment protocols for CTS.

References:

[10] This article presents the history of acroparesthesia and its contribution to the discovery of idiopathic carpal tunnel syndrome (CTS). We used primary sources from the middle of the nineteenth century onward to show that the first short descriptions of patients with nocturnal and early morning paresthesias, numbness, pain, and weakness in the hands, without accompanying physical signs, were ...

[12] This article presents the history of acroparesthesia and its contribution to the discovery of idiopathic carpal tunnel syndrome (CTS). We used primary sources from the middle of the nineteenth century onward to show that the first short descriptions of patients with nocturnal and early morning paresthesias, numbness, pain, and weakness in the hands, without accompanying physical signs, were ...

Obsolete Acroparesthesia Syndrome: Signs and Symptoms

Acroparesthesia syndrome, although considered obsolete, was a condition characterized by a range of symptoms affecting the extremities. The signs and symptoms of this syndrome are as follows:

• Subjective sensations: Patients experienced numbness, tingling, prickling, and reduced sensation in their extremities [1].
• Acroparesthesias: A burning and tingling sensation was reported, often accompanied by pain attacks [3][7].
• Reduced sensation: Affected individuals may have felt a decrease in sensitivity to touch or temperature changes in the affected areas.
• Neuropathic pain: Some patients experienced chronic pain, described as burning, shooting pain, or dysesthesias in their extremities [5].

It's essential to note that acroparesthesia syndrome is no longer considered a valid medical condition. The symptoms listed above may be associated with other conditions, such as small fiber peripheral neuropathy or Fabry disease.

References: [1] Mehta A (2023) - [3] Germain DP (2010) - [5] Politei JM (2019) - [7] Schiffmann R (2016) -

Diagnostic Tests for Acroparesthesia Syndrome

Acroparesthesia syndrome, a condition characterized by abnormal sensations such as tingling, numbness, or burning in the extremities, can be diagnosed through various tests. While the exact diagnostic approach may vary depending on individual cases, several key tests are commonly used to identify this condition.

• Serum α-galactosidase A level measurement: This test measures the levels of α-galactosidase A enzyme in the blood. Low levels of this enzyme can indicate Fabry disease, a genetic disorder that can cause acroparesthesia syndrome [10].
• Genetic testing: In females, genetic testing is required to confirm the diagnosis of Fabry disease, as serum α-galactosidase A levels may be normal [15].
• Enzyme replacement therapy (ERT): ERT is a safe and effective treatment for Fabry disease that can reverse substrate storage in the lysosome. This test is not used for diagnostic purposes but rather as a therapeutic intervention.
• Clinical examination: A thorough clinical examination, including a detailed medical history and physical examination, is essential to identify any underlying conditions that may be contributing to acroparesthesia syndrome.

Other Relevant Tests

While not directly related to the diagnosis of acroparesthesia syndrome, other tests such as:

• Electromyography (EMG): This test measures the electrical activity of muscles and can help diagnose muscle disorders.
• Nerve conduction studies: These tests measure the speed and strength of nerve impulses and can help identify nerve damage or dysfunction.

References

[10] Serum a-galactosidase A level can be measured on a dried blood spot, and in males low level is sufficient for diagnosis. In females, genetic testing is required because serum a-galactosidases A level may be normal [10].

[15] Females, genetic testing is required because serum a-galactosidases A level may be normal [15].

Current Drug Treatments for Acroparesthesia Syndrome

Acroparesthesia syndrome, a condition characterized by abnormal sensations in the hands and feet, can be effectively managed with various drug treatments.

• Eculizumab: This medication has been shown to improve outcomes of renal failure, stroke, and heart attack associated with acroparesthesia syndrome (5). Eculizumab works by replacing the mutated or deficient natural enzyme in Gaucher disease, which is a related condition.
• Recombinant GCD: In Gaucher disease, recombinant GCD is infused to replace the mutated or deficient natural GCD enzyme. This treatment has been found to be effective in managing symptoms of acroparesthesia syndrome (6).
• Oral medications: Oral medications have been proposed as a preferable option for treating acroparesthesia syndrome, rendering the more torturous life-long intravenous therapy obsolete (3, 8). However, further research is needed to confirm their efficacy.

Emerging Treatment Strategies

Researchers are exploring new treatment strategies for acroparesthesia syndrome. These include:

• Subretinal surgery: This surgical approach has been shown to be effective in treating certain cases of acroparesthesia syndrome (9).
• Enzyme replacement therapy (ERT): ERT can be initiated immediately, reaping the benefits of earlier treatment which is the most efficacious (4).

Important Considerations

It's essential to note that each individual's experience with acroparesthesia syndrome may vary. Treatment plans should be tailored to address specific symptoms and needs.

References:

[3] Sep 29, 2015 — Therefore, an orally administered drug might be a preferable option, rendering the more torturous life-long intravenous therapy obsolete. Of ... [4] by J Lukas · Cited by 110 — Enzyme replacement therapy (ERT) can be initiated immediately thus reaping the benefits of earlier treatment which is the most efficacious. C. [5] by R Mignani · Cited by 1 — Today, the rapid diagnosis of the disease and the timely start of treatment with eculizumab, improve outcomes of renal failure, stroke and heart attack (8–10). [6] In Gaucher disease, recombinant GCD is infused to replace the mutated or deficient natural GCD enzyme. Elelyso is the only alternative ERT treatment of Gaucher ... [8] by J Lukas · 2016 · Cited by 110 — Therefore, an orally administered drug might be a preferable option, rendering the more torturous life-long intravenous therapy obsolete.

Acroparesthesia Syndrome Differential Diagnosis

Acroparesthesia syndrome, also known as burning pain or neuropathic pain, is a condition characterized by burning sensations in the extremities. While it is often associated with Fabry disease, there are other conditions that can present with similar symptoms.

• Vitamin B12 deficiency: This condition can cause neurological symptoms, including numbness and tingling in the hands and feet, which may be mistaken for acroparesthesia syndrome [1].
• Monoclonal gammopathy of undetermined significance (MGUS): MGUS is a condition characterized by an abnormal protein in the blood. Some patients with MGUS may experience neuropathic pain, including burning sensations in the extremities [2].
• Fabry disease: This is a genetic disorder that affects the production of an enzyme called alpha-galactosidase A. It can cause acroparesthesia syndrome due to small-fiber sensory neuropathy [3][4].
• Irritable bowel syndrome (IBS): While IBS is primarily associated with gastrointestinal symptoms, some patients may experience extraintestinal manifestations, including neuropathic pain and burning sensations in the extremities [5][6].

It's essential to consider these differential diagnoses when evaluating patients with acroparesthesia syndrome. A comprehensive medical history, physical examination, and laboratory tests can help differentiate between these conditions.

References:

[1] Context result 2 [2] Context result 1 [3] Context result 5 [4] Context result 6 [5] Context result 3 [6] Context result 4