Hypokalaemic paralysis results from either alteration in transcellular distribution of potassium or actual potassium depletion from renal or extrarenal losses. Dichlorphenamide, a carbonic anhydrase inhibitor, was approved by the fda in august 2015 for the management of primary hyperkalemic periodic paralysis. Cacna15 gene was sent for the diagnosis of the patient. What is periodic paralysis primary periodic paralysis is a rare genetic disorder that involves periods of muscle weakness or paralysis. Lazarus feb 1, p 3391 notes that a high index of suspicion is often required in the diagnosis of hyperthyroidism, but he neglects to mention one presentation in which the disorder may not be readily apparent, or not considered by most physicians.
Tpp is most commonly described in young asian males. Mar 01, 2009 pubmed is a searchable database of medical literature and lists journal articles that discuss thyrotoxic periodic paralysis. Treatment is often necessary for acute attacks of hypokalemic periodic paralysis but seldom for hyperkalemic periodic paralysis. Proceedings of the second congress of the association of southeast asian nations asean federation of endocrine societies, nov 30 dec 3, bangkok, thailand 1983.
Most often, these episodes involve a temporary inability to move muscles in the arms and legs. It is classified as hypokalemic when episodes occur in association with low potassium blood levels or as hyperkalemic when episodes can be induced by elevated potassium. However, you will still need to take your potassium tablets as prescribed by your doctor. This reduced although did not abolish his attacks of paralysis. Management includes prompt normalization of potassium, which results in resolution of the paralysis. Connect with others affected by primary periodic paralysis for support and information. Thyrotoxic periodic paralysis tpp is an uncommon syndrome that can be fatal. It is characterized by sudden onset paralysis associated with hypokalemia. Periodic paralysis syndrome is a group of rare muscle diseases that are inherited genetic from a biological parent or from a spontaneous mutation in a persons genetic makeup there are about seven to eight types of periodic paralysis syndromes, for example, hyperkalemic periodic paralysis or hyperpp and normokalemic periodic paralysis. Hyperthyroidism can unmask thyrotoxic periodic paralysis tsh will be low free t4 or total t3 will be elevated.
Pdf merge combinejoin pdf files online for free soda pdf. Hypokalemic periodic paralysis is a rare disease characterized by reversible attacks of muscle weakness accompanied by episodic hypokalemia. This free online tool allows to combine multiple pdf or image files into a single pdf document. Periodicparalysis differential diagnosis and important. Mechanism of thyrotoxic periodic paralysis shihhua lin and choulong huang division of nephrology, department of medicine, triservice general hospital, national defense medical center. When this occurs, symptoms of periodic paralysis recur.
May 18, 2017 periodic paralysis syndrome describes seven to eight different types of rare genetic conditions that cause symptoms of episodic muscle weakness and paralysis. Hypokalemic periodic paralysis case journal of reproductive. Treatment and prevention of periodic paralysis robert c. Many levels stay the same and should not be used as a guideline for diagnosis of an episode. Thyrotoxic periodic paralysis tpp is a rare compli cation of thyrotoxicosis and is classically associated with attacks of acute muscle weakness, thyrotoxic symptoms and. Thyrotoxic periodic paralysis tpp is a condition featuring attacks of muscle weakness in the presence of hyperthyroidism overactivity of the thyroid gland. Hypokalaemic periodic paralysis and myotonia in a patient with.
Oct 19, 2011 hypokalaemic periodic paralysis hokpp has a prevalence of 1 case per 100,000 population. Emerson, plus many other medical authorities, those with hypokpp should follow a diet which is high in protein, low. Thyrotoxic hypokalaemic periodic paralysis the lancet. Novel etiopathophysiological aspects of thyrotoxic. Hypokalaemia was identified and treated with resolution of symptoms. Introduction a group of disorders of different etiologies with episodic, shortlived, and hyporeflexic skeletal muscle weakness with or without myotonia without sensory deficit without loss of consciousness. Most cases are due to a transcellular shift of potassium and the differential diagnosis includes familial periodic paralysis, thyrotoxic periodic paralysis, and barium poisoning.
It can be hypokalemic, triggered by too little potassium in the body, or hyperkalemic, triggered by too much potassium. Thyrotoxic periodic paralysis is a rare endocrine disorder seen predominantly in men of asian origin. In a large family with hyperkalemic periodic paralysis with myotonia, fontaine et al. Designed by the national institutes of health this information is based on a diet designed at the national institutes of health in the 1960s for a young man with hypokalemic periodic paralysis hypokpp. Hypokalemic periodic paralysis hkpp is a rare genetic disorder with autosomal dominant inheritance and characterized by recurrent attacks of skeletal muscle weakness with associated hypokalemia which is precipitated by stress, cold, carbohydrate load, infection, glucose infusion, hypothermia, metabolic alkalosis, anesthesia, and steroids. Review of the diagnosis and treatment of periodic paralysis.
Episodes typically involve a temporary inability to move muscles in the arms and legs. It is often not recognised when first seen because of lack of familiarity with the disorder and partly due to the subtleness of thyrotoxicosis. Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Tpp is a common complication of hyperthyroidism in asian men but is increasingly seen in western countries. The most common causes of hypokalemic periodic paralysis are familial periodic paralysis, thyrotoxic periodic paralysis and sporadic periodic paralysis, respectively.
This series summarizes the clinical and metabolic features of 10 patients who presented to the western and sunshine hospitals in melbourne, australia, between 1997 and 2002 with thyrotoxic periodic paralysis. We describe the case of a young adult hispanic male who presented to a pediatric emergency department with. Periodic paralysis and voltagegated ion channels kidney. Although it is commonly described in adult east asian men, tpp has been reported in individuals of all ages and ethnic backgrounds. Clinical and metabolic features of thyrotoxic periodic. Periodic paralysis, any of the forms of a rare disorder that is characterized by relatively shortterm, recurrent attacks of muscle weakness. Thyrotoxic periodic paralysis terminated with intravenous. Periodic paralyses pps are rare neuromuscular disorders caused by mutations in skeletal muscle sodium, calcium, and potassium channel. Oct 21, 2008 hypokalemic periodic paralysis is one form of periodic paralysis, a rare group of disorders that can cause of sudden onset weakness. Changes to your diet may help reduce the frequency of episodes of paralysis. A rare disorder characterised by episodes of muscle paralysis lasting from a few to 2448 hours and associated with a fall in blood potassium levels. Thyrotoxic periodic paralysis is a serious complication characterised by muscle paralysis and hypokalaemia due to a massive intracellular shift of potassium. Click on the link to view a sample search on this topic.
Thyrotoxic periodic paralysis tpp, a disorder most commonly seen in asian men, is characterized by abrupt onset of hypokalemia and paralysis. Thyrotoxic hypokalemic periodic paralysis tpp is an unusual complication of hyperthyroidism rarely seen in non. Reported predominantly among individuals of asian descent, tpp is a rare manifestation of. The associations allocation for research on hyperkalemic and hypokalemic periodic paralysis. The case is reported of a patient who presented to the accident and emergency department with sudden onset of weakness of his lower limbs. Apr 30, 2018 for prophylaxis, dichlorphenamide 50100 mg bid may be considered for the management of primary hypokalemic periodic paralysis. When physicians say periodic paralysis is only found in asian males this is the type of periodic paralysis they are thinking of. Our pdf merger allows you to quickly combine multiple pdf files into one single pdf document, in just a few clicks. Uncovering periodic paralysis keveyis dichlorphenamide. Severe episodes of muscle weakness, often triggered by abnormally high or low potassium levels hyperkalemic and hypokalemic periodic paralysis, or high thyroid levels thyrotoxic. Hypokalemic periodic paralysis conditions gtr ncbi. Periodic paralysis electrolyte disturbance, k, mg, ca hypokalemic periodic paralysis. Accordingly, there should be a high index of clinical suspicion for tpp, and thyroid function tests should be routinely conducted in patients with features of. Any thyroid condition that causes hyperthyroidism can induce periodic paralysis in susceptible individuals.
Periodic paralysis pp is a rare group of clinical syndromes characterized by episodes of. Other causes of weakness and paralysis acute intermittent porphyria ascending weakness evaluation labs. See also hokpp2, which is caused by mutation in the scn4a gene. The segment features linda feld, vice president of periodic paralysis association ppa, and steve cannon, md, phd, neurologist and professor of physiology at ucla. Uncovering periodic paralysis for more information, please visit. Hypokalemic periodic paralysis genetics home reference nih. Hyperkalemic periodic paralysis genetics home reference nih. Hypokalemic paralysis often referred to as familial is caused. A long exercise test was positive for periodic paralysis with a decrement of cmap amplitude from the baseline of 67%. According to the nih physicians and dietician mary r. Hypokalaemic paralysis postgraduate medical journal. The medical name for low potassium level is hypokalemia. Hypokalemic periodic paralysis is one form of periodic paralysis, a rare group of disorders that can cause of sudden onset weakness. Factors like highcarbohydrate meal exercise, steroid, and stress can.
The case is reported of a patient who presented to the accident and emergency department with. Some patients have their first attack within minutes of birth, but a few dont have symptoms until they are in their 60s or 70s. Patients should speak with their healthcare providers to request a genetic test for periodic paralysis. Thyrotoxic hypokalemic periodic paralysis in an african. Tpp has been reported more frequently in asian males than in patients with other ancestral origins 14. Acetazolamide is an offlabel alternative that is administered at a dose of 1251500 mgd in divided doses. Laboratory evaluation revealed a markedly low potassium level. Thyrotoxic periodic paralysis tpp is a rare complication of thyrotoxicosis and is classically associated with attacks of acute muscle weakness, thyrotoxic symptoms and hypokalemia 1,2. Please be certain that the cause of the hyperthyroidism is found i. Asians, with the potential for misdiagnosis in other ethnic groups. Thyrotoxic periodic paralysis tpp is a condition characterized by episodes of muscle weakness in individuals with high thyroid hormone levels. Age it tends to present in the second decade of life but may be in the first decade with more severe disease and the third decade in milder cases.
It has been increasingly reported in the usa due to the rise in the immigrant population. Division of pediatric endocrinology, albert einstein college of medicine and. Hyperkalemic periodic paralysis periodic paralysis ii an ad variant of muscular dystrophy caused by a defective gene on chromosome 17, which encodes the. Thyrotoxic periodic paralysis tpp is characterized by recurrent episodes of muscle weakness and hypokalemia associated with thyroid hyperactivity. These episodes can last from a few minutes to a few days, depending on.
Thyrotoxic periodic paralysis tpp is an uncommon disorder characterized by simultaneous thyrotoxicosis, hypokalemia, and paralysis that occurs primarily in males of asian descent, including patients of japanese, chinese, vietnamese, korean, filipino, american indian, and hispanic ancestry. Mar 16, 2020 gamstorp disease, also known as hyperkalemic periodic paralysis, is a rare genetic condition that causes episodes of muscle weakness or temporary paralysis. The condition primarily affects the lower extremities and is secondary to thyrotoxicosis. Periodic paralysis is caused by a transient failure of muscle fiber excitability 4,5. This classification depending on serum potassium is still of use clinically but has. The patients paralysis resolved upon repletion of his low potassium and he was. The periodic paralyses are a group of rare inherited disorders that cause temporary episodes of muscle weakness or paralysis. Soda pdf merge tool allows you to combine two or more documents into a single pdf file for free. These transient attacks resemble those of patients with familial hypokalemic periodic paralysis hypokpp and resolve with treatment of the underlying hyperthyroidism. Episodes of paralysis can occur in only certain areas of the body, like an arm or leg, or the whole body. Thyrotoxic periodic paralysis is a rare complication of hyperthyroidism.
Periodic paralysis dr abdullah ansari pg2 medicine amu aligarh 2. The presentation is variable in muscle power from transient episodes of muscle weakness to complete flaccid paralysis. Detects mutations in 3 genes that cause severe episodes of muscle weakness. Thyrotoxic periodic paralysis tpp is a rare but potentially serious complication of hyperthyroidism characterized by muscular weakness and hypokalemia in a patient with thyrotoxicosis. Hypokalemic periodic paralysis is a rare disorder in which a person experiences episodes of painless muscle weakness and often paralysis. Hypokalemic periodic paralysis is a rare and dramatic complication of hyperthyroidism. Periodic paralysis an overview sciencedirect topics. Pdf thyrotoxic periodic paralysis in a hispanic young. Hypokalemic periodic paralysis hokpp is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia jun 12, 2017 hypokalemic periodic paralysis hokpp is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels hypokalemia. Familial periodic paralysis msd manual professional edition. Thyrotoxic periodic paralysis with ventricular tachycardia.
Mutations in the scn4a gene can also cause hyperkalemic periodic paralysis hypp. Thyrotoxic periodic paralysis in a hispanic young adult male. Periodic paralysis is found in all races and in both sexes. A medline search was conducted for articles published during the last 40 yr based on the key words thyrotoxic periodic paralysis and hypokalemic periodic paralysis. Diet for patients with hypokalemic periodic paralysis. Hyperkalemic periodic paralysis hypp, hyperkpp is an inherited autosomal dominant disorder that affects sodium channels in muscle cells and the ability to. Other causes of weakness and paralysis acute intermittent porphyria ascending weakness evaluation. It isnt clear how much of a genetic component there is in thyrotoxic periodic paralysis, but recently a potassium channel gene mutation was discovered in some patients with tpp. A broad range of topics related to primary periodic paralysis are addressed within the segment, including symptoms, triggers, misdiagnosis, and genetic testing. Thyrotoxic periodic paralysis genetic and rare diseases. Hypokalemic and normokalemic are two kinds of this genetic problem. Hypokalemic periodic paralysis hypopp was considered. Thyrotoxic periodic paralysis tpp is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state. We report the case of a patient with acute, severe muscle weakness and hypokalemia who was diagnosed in the emergency department to have thyrotoxicosis with acute tpp.
Thyrotoxic periodic paralysis british journal of medical. A mutation in the kcne3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis. The patient presented with sudden onset paralysis of his extremities. Periodic paralysis definition of periodic paralysis by. The underlying hyperthyroidism is often subtle causing difficulty in early diagnosis. Hypokalemia a decreased potassium level in the blood is usually present during attacks. Discuss having a rare disease, stiffness, movement issues, and more.
Hypokalemic periodic paralysis hypokpp, also known as familial hypokalemic periodic paralysis fhpp, is a rare, autosomal dominant channelopathy characterized by muscle weakness or paralysis when there is a fall in potassium levels in the blood. An annual incidence of up to 2% has been reported in asian people with thyrotoxicosis. Primary periodic paralysis ppp is a group of rare diseases that temporarily make muscles stiff, weak, or unable to move. Familial periodic paralysis is a rare autosomal dominant condition with considerable variation in penetrance characterized by episodes of flaccid paralysis with loss of deep tendon reflexes and failure of muscle to respond to electrical stimulation. Nov 25, 2014 hypokalemic periodic paralysis prevelance 1. Periodic paralysis pp is a rare neuromuscular disorder related to a defect in muscle ion channels, characterized by episodes of painless muscle weakness, which may be precipitated by heavy exercise, fasting, or highcarbohydrate meals. Periodic paralysis pp is a muscle disease that causes episodic muscle weakness, in the family of diseases called channelopathies. The thyroid hormone augments gene transcription and posttranscriptional modification of nak atpase, a cell membrane protein that regulates the electrical potential of the cell. Thyrotoxic periodic paralysis tpp is an acute condition that manifests as a sudden and reversible loss of muscle strength of the limbs and thyrotoxicosis associated with hypokalemia. Thyrotoxic periodic paralysis is a rare complication of hyperthyroidism, characterized by severe hypokalemia and episodes of skeletal muscle paralysis. Featured article candidates thyrotoxic periodic paralysis archive1 had quite a time, and came close to failing on good grounds. Dietary guidelines for hypokalemic periodic paralysis. A case of thyrotoxic hypokalemia periodic paralysis. We recently treated a 26yearold white man in whom hypokalaemic lower extremity paralysis was the presenting.
During an attack of weakness, the fiber fails to maintain a normal resting potential and in this depolarized state the fiber is persistently refractory, unable to generate an action potential figure 73. The patients paralysis resolved upon repletion of his low potassium. Thyrotoxic periodic paralysis tpp is a rare and potentially lethal complication of hyperthyroidism. Prophylactic treatment is necessary when the attacks are frequent. Thyrotoxic periodic paralysis may be associated with features of thyroid disease and has been associated with mutations in kir2. Additional tests identified the patient as being thyrotoxic. Hypokalemic periodic paralysis hypopp is a disorder that causes occasional episodes of muscle weakness and sometimes a lower than normal level of potassium in the blood. Definitive treatment of hyperthyroidism resolves tpp completely. Periodic paralysis is a group of rare genetic diseases that lead to weakness or paralysis from common triggers such as cold, heat, high carbohydrate meals, not eating, stress or excitement and physical activity of any kind. Thyrotoxic periodic paralysis tpp is an alarming and potentially lethal complication of hyperthyroidism characterised by muscle paralysis and hypokalaemia. Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood.
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