The Link Between Hyperhidrosis and Rare Diseases

If your body produces excessive sweat, you may have hyperhidrosis, a condition that can signal underlying illnesses, including rare diseases such as Fabry, Mastocytosis, and others.

By itself, hyperhidrosis is not necessarily a warning sign, as even healthy individuals can sweat more than others. However, if it appears suddenly, is localized, or comes with unusual symptoms, it is advisable to consult a doctor. 

What is hyperhidrosis?

Our sweat glands help to regulate body temperature. The amount of perspiration varies from person to person, but it’s possible to say that a person has hyperhidrosis when perspiration occurs in greater amounts than needed for proper thermoregulation. 

It may affect the entire body (usually with a specific underlying cause, referred to as generalized hyperhidrosis) or it may be localized to the armpits, hands, and feet, in which case it is usually primary localized hyperhidrosis.

Possible Causes

While primary hyperhidrosis is linked to genetic, environmental, and emotional factors, secondary hyperhidrosis is associated with certain illnesses. Pathological causes of sweating include endocrinological, neurological, or hematological diseases. 

Examples:

• Diseases accompanied by fever or infection, as well as systemic diseases;
• Hyperthyroidism;
• Diabetes;
• Hodgkin’s lymphoma;
• Pheochromocytoma, a tumor of the adrenal glands associated with excessive, episodic release of catecholamines (noradrenaline and adrenaline). Typical symptoms include sudden spikes in blood pressure, excessive sweating (skin is moist and pale), palpitations, and anxiety;
• Acromegaly, a condition caused by excessive secretion of growth hormone;
• Neurological disorders (e.g., Parkinson’s disease), peripheral nerve or spinal cord damage, where excessive sweating may occur only in a specific area (e.g., only on one side of the body);
• Chronic heart failure, in which excessive sweating may be accompanied by pallor and cold extremities;
• Menopause or pregnancy;
• Obesity;
• Adverse effects of medications;
• Red granular nose, i.e., excessive sweating limited to the nose, seen mainly in children;
• Gustatory sweating, linked to eating heavily spiced foods.

Hyperhidrosis and Rare Diseases

1. Neurological rare diseases

Some rare neurological disorders affect the autonomic nervous system, which controls sweating:

• Familial dysautonomia (Riley–Day syndrome):  a genetic disorder that causes autonomic dysfunction, leading to abnormal sweating patterns (either too much or too little).

• Ross syndrome: a rare disorder involving segmental anhidrosis and compensatory hyperhidrosis. 

 2. Metabolic and endocrine rare diseases

• Fabry disease: a lysosomal storage disorder where patients often have hypohidrosis (reduced sweating), but some may experience paradoxical hyperhidrosis in unaffected areas. 
• Pheochromocytoma: a rare adrenal tumor that releases excess catecholamines, leading to profuse sweating, palpitations, and high blood pressure. 
• Carcinoid syndrome: associated with rare neuroendocrine tumors that cause flushing and sweating due to serotonin overproduction. 

3. Genetic or systemic syndromes

• POEMS syndrome: a rare multisystem disorder; one of its features can be increased sweating due to autonomic or hormonal dysregulation. 
• Mastocytosis: a rare condition involving excessive mast cell accumulation; histamine release can trigger flushing, itching, and occasionally sweating.

What tests should be done for excessive sweating?

Based on the medical history and physical examination, the doctor may recommend additional tests or refer the patient to specialists, such as a dermatologist, endocrinologist, neurologist, or cardiologist.

Basic laboratory tests that may be needed to rule out secondary causes of hyperhidrosis include:

• Complete blood count with differential,
• ESR,
• TSH,
• Blood glucose,
• Kidney and liver function parameters.

If necessary, further diagnostics may also include imaging studies.

Moreover, excessive sweating occurs only in situations of high stress, anxiety, or in cases of primary hyperhidrosis; an urgent doctor’s visit is not required. However, if hyperhidrosis has a sudden onset or there has been a change in the pattern of sweating, along with other concerning symptoms such as weight loss, increased fatigue and weakness, enlarged lymph nodes, recurrent fever, palpitations, hand tremors, shortness of breath, and others, a medical consultation is essential.

Scientific References

• “Rare forms of hyperhidrosis – Causes of secondary hyperhidrosis: Rare forms” from International Hyperhidrosis Society.
• Rachel Peh, Chun Wai Yip, Zhong Hong Liew, “Acute Hyperhidrosis: A Clue to Underlying Autonomic Dysfunction and a Rare Neurological Disorder.” PubMed. 2023.
• M A Henning, O B Pedersen, G B Jemec, “Genetic disposition to primary hyperhidrosis: a review of literature.” PubMed. 2019.